Goods & Services

Computer programs, recorded; computer software, recorded; software as a medical device [SaMD], downloadable; computers for use in data management; computer software for database management; apparatus for data processing; downloadable computer software for collecting, analysing and organising data in the field of deep learning; laboratory devices for detecting genetic sequences. Scientific laboratory services; research and development of new products for others; scientific research and development; platform as a service [PaaS]; server hosting; software as a service [SaaS]; cloud computing; electronic data storage; data encryption services; creating and designing website-based indexes of information for others [information technology services]; computer system design; consultancy and information services relating to information technology; maintenance of computer software; data security consultancy; updating of computer software; biological research and analysis; medical research services; medical laboratory services; scientific research in the field of genetics; DNA sequencing technology research; research and development services in the field of gene expression systems; DNA analysis services for scientific research purposes; research in the field of bioinformatics. Medical clinic services; providing medical information via a website; medical analysis services for diagnostic and treatment purposes provided by medical laboratories; medical information services provided via the internet; remote monitoring of medical data for medical diagnosis and treatment; providing online information about medical services; medical analysis services for the diagnosis of cancer; genetic testing for cancer risk for medical purposes; medical testing services relating to the diagnosis and treatment of disease.

Abstract

Provided are a protein marker related to premature delivery, a method for constructing a premature delivery risk assessment and prediction model, a prediction model, a prediction system, a method for predicting a premature delivery risk and a delivery time, and related applications thereof. Several protein markers related to premature delivery are found, and the protein markers are applied to the field of premature delivery prediction. Moreover, the application of LUM and/or TIMP1 in premature delivery prediction is also found. LUM and/or TIMP1 in a sample of a pregnant woman is tested, then a test result is compared with a predetermined threshold value, and on the basis of a comparison result, whether the pregnant woman has a premature delivery risk or whether the pregnant woman is about to deliver within a predetermined timeframe is determined. Therefore, a premature delivery risk and a delivery time can be accurately predicted 1-2 weeks in advance by means of only collecting cervical and vaginal secretions of the pregnant woman and by using a non-invasive method.

IPC Classes  ?

• G01N 33/68 - Chemical analysis of biological material, e.g. blood, urineTesting involving biospecific ligand binding methodsImmunological testing involving proteins, peptides or amino acids

Abstract

Provided in the present invention are a method for constructing a pre-eclampsia risk assessment prediction model, and a prediction product, a prediction system, and a related application of the method. Specifically, the method of the present invention comprises: constructing a logistic regression analysis model on the basis of acquired clinical indexes of a pregnant woman, and obtaining the prior probability of early-onset pre-eclampsia or late-onset pre-eclampsia in the pregnant woman; performing median-of-multiples calibration on an acquired MAP, IGFBP1 and/or PLGF of the pregnant woman, and respectively constructing a multivariate normal distribution model for a sick pregnant woman and a multivariate normal distribution model for a healthy pregnant woman on the basis of an MAP MoM value and an IGFBP1 MoM value and/or a PLGF MoM value, so as to obtain the conditional probability of early-onset pre-eclampsia or late-onset pre-eclampsia in the pregnant woman; and in view of the prior probability and the conditional probability, calculating the posterior probability of early-onset pre-eclampsia or late-onset pre-eclampsia in the pregnant woman on the basis of a Bayesian model. In the present invention, the detection of related protein markers and the obtaining of maternal clinical information data are relatively easy, the accuracy of predicting early-onset pre-eclampsia and late-onset pre-eclampsia is relatively high, and clinical popularization and application are facilitated; therefore, the present invention is of great value to the prevention and early diagnosis of a disease.

IPC Classes  ?

• G16H 50/50 - ICT specially adapted for medical diagnosis, medical simulation or medical data miningICT specially adapted for detecting, monitoring or modelling epidemics or pandemics for simulation or modelling of medical disorders

Abstract

The present application provides a gene marker combination and a use thereof in an early-onset preeclampsia risk prediction model. The gene marker combination comprises at least one selected from a combination of GTF2H1, CD48, PBX1, PLA2G2A, ACVR1B, HMGB1, ERBB2, XRCC5, TGFBR2, NFKB1, EGF, TLR6, EZH2, IKZF1, EGFR, and CD36, a combination of HIPK1, MTHFR, IL6R, RAB27A, UBE2I, CREBBP, SOX8, HNF4A, ICOS, LIF, TMPRSS6, DNMT3A, WWTR1, RASSF1, FOXP1, TLR2, and MAPK14, a combination of AGRN, ATP2B1, ELAC2, HDAC5, GABARAP, FXR2, NFE2L2, DGCR2, MAPK1, CASR, MYLIP, TUBB, DOCK4, PTGS1, HSPA5, ABL1, and SYK, or a combination of chr1:110,000,000-115,000,000, chr4:150,000,000-155,000,000, chr6:160,000,000-165,000,000, chr6:60,000,000-65,000,000, and chr7:125,000,000-130,000,000.

IPC Classes  ?

• C12Q 1/6883 - Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
• G16B 5/00 - ICT specially adapted for modelling or simulations in systems biology, e.g. gene-regulatory networks, protein interaction networks or metabolic networks
• G16B 40/00 - ICT specially adapted for biostatisticsICT specially adapted for bioinformatics-related machine learning or data mining, e.g. knowledge discovery or pattern finding
• G16H 50/30 - ICT specially adapted for medical diagnosis, medical simulation or medical data miningICT specially adapted for detecting, monitoring or modelling epidemics or pandemics for calculating health indicesICT specially adapted for medical diagnosis, medical simulation or medical data miningICT specially adapted for detecting, monitoring or modelling epidemics or pandemics for individual health risk assessment
• G16H 50/50 - ICT specially adapted for medical diagnosis, medical simulation or medical data miningICT specially adapted for detecting, monitoring or modelling epidemics or pandemics for simulation or modelling of medical disorders

Abstract

A nested PCR method and the use thereof, and an improved targeted detection and library building method formulated on the basis of a nested PCR library building method. The method uses the nucleic acid cleavage activity of a USER enzyme, combined with a Taq DNA polymerase or an enzyme having both a DNA polymerization activity and a 5'-3' exonuclease activity, to establish a method for primer removal, to replace a purification step between a first round of PCR and a second round of PCR, thereby successfully solving the problem of cross contamination among samples caused by the purification operation of nested PCR. In addition, the method can effectively remove non-specific amplification products, improves the specificity of targeted amplification, and has a simpler experimental process. The nested PCR method can be applied to a targeted library building platform and a sequencing platform.

IPC Classes  ?

• C12Q 1/6806 - Preparing nucleic acids for analysis, e.g. for polymerase chain reaction [PCR] assay
• C12Q 1/6869 - Methods for sequencing
• C12N 15/11 - DNA or RNA fragmentsModified forms thereof

Abstract

Provided in the present invention are protein markers related to premature delivery, a method for constructing a premature delivery risk assessment and prediction model, a prediction model, a prediction system and the related use thereof. The present invention discovers several protein markers related to premature delivery for the first time, and applies same to the field of premature delivery prediction for the first time. The protein markers related to premature delivery comprise: lumican, β2 microglobulin and α1 microglobulin. Furthermore, the present invention also discovers the use of several combinations of LUM, B2M, AMBP, metalloproteinase inhibitor 1 (TIMP1) and fibronectin 1 (FN1) in the prediction of premature delivery. The premature delivery risk prediction model provided in the present invention, which is constructed by means of using the protein markers in 426 samples has a high accuracy, and has an important value for risk prediction and the monitoring of premature delivery.

IPC Classes  ?

• G01N 33/68 - Chemical analysis of biological material, e.g. blood, urineTesting involving biospecific ligand binding methodsImmunological testing involving proteins, peptides or amino acids

Abstract

An STRC gene copy number variation detection method based on whole genome sequencing, comprising: carrying out sequence comparison on an STRC gene and an STRCP1 gene to find out differential sites of the STRC gene and the STRCP1 gene; for each differential site, reading sequences of corresponding STRC positions and STRCP1 positions in a genome from a variation detection file; calculating the total copy number of true genes and pseudogenes by using a preset reference site in the genome as a benchmark; calculating an STRC gene copy ratio on each differential site; calculating the STRC gene copy number on each differential site according to the total copy number and the STRC gene copy ratio; and determining the STRC gene copy number on each exon according to the STRC gene copy number on each differential site. The method can implement measurement of the STRC copy number, simplifies a detection process, improves the detection throughput, and reduces costs.

IPC Classes  ?

• G16B 20/10 - Ploidy or copy number detection
• G16B 30/10 - Sequence alignmentHomology search

Abstract

The present application belongs to the field of variation interpretation. Disclosed are a variation evidence item determination method and apparatus, and an electronic device. The variation evidence item determination method comprises: extracting judgment content of at least one evidence item on the basis of a target principle, so as to acquire at least one evidence item standard knowledge entry; representing the evidence item standard knowledge entry, so as to acquire an evidence item standard knowledge graph; identifying information recorded in a target document set, and matching the information with the evidence item standard knowledge graph, so as to acquire an evidence item knowledge graph; and on the basis of the evidence item knowledge graph, determining a target evidence item corresponding to a target variation. The variation evidence item determination method of the present application significantly improves the determination efficiency, judgment accuracy and judgment precision of an evidence item.

IPC Classes  ?

• G06F 16/33 - Querying
• G06F 40/211 - Syntactic parsing, e.g. based on context-free grammar [CFG] or unification grammars
• G06F 40/279 - Recognition of textual entities
• G06N 5/02 - Knowledge representationSymbolic representation

Abstract

Disclosed in the present invention are a library preparation kit for respiratory virus enrichment sequencing and a use method for the library preparation kit. The present invention provides a primer set for performing enrichment sequencing on respiratory viruses. The primer set is composed of a plurality of specific primers specific to a target virus genome, and random primers. The specific primers are single primers. Target viruses comprise an enterovirus group A, a parainfluenza virus type 3, a respiratory syncytial virus, an influenza B virus and/or an influenza A virus. The specific primers are specifically composed of all or some of 149 single primers as shown in SEQ ID NO. 1 to SEQ ID NO. 149.

IPC Classes  ?

• C12Q 1/6876 - Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
• C12Q 1/6869 - Methods for sequencing

Abstract

Disclosed are a variation processing method, a system, a device, and a storage medium. The method comprises: acquiring N types of variations and a first relationship between the N types of variations and diseases, wherein N is a positive integer; on the basis of the first relationship between the N types of variations and the diseases, screening M types of variations with a clear relationship between the variations and the diseases from the N types of variations, wherein M is a positive integer; performing first analysis on the M types of variations to obtain a first analysis result, the first analysis comprising at least one of function inference, computer prediction, and crowd recording, and the first analysis result comprising a second relationship between the M types of variations and the diseases; and determining variations in which the second relationship is different from the first relationship in the M types of variations as first re-classified variations.

IPC Classes  ?

• A61B 8/02 - Measuring pulse or heart rate

Abstract

The present invention provides a method for detecting a chromosome copy-number variant (CNV). The method comprises: performing PCA noise reduction and CNV analysis on sequencing data of a sample to be detected, so as to detect whether said sample contains a CNV and/or determine a CNV source, wherein the PCA noise reduction is performed by comparing the sequencing data of said sample with a reference data set, and the reference data set is a principal component feature which represents noise and is obtained after PCA learning is performed on a predetermined sample. According to the method, a CNV can be accurately detected, and the occurrence source of the CNV can be determined, so that false positive or false negative results caused by a maternal CNV in a sample to be detected are effectively avoided, and false detection or missing detection of congenital defects of fetuses is prevented.

IPC Classes  ?

• G16B 40/00 - ICT specially adapted for biostatisticsICT specially adapted for bioinformatics-related machine learning or data mining, e.g. knowledge discovery or pattern finding

Abstract

Provided are a biomarker for predicting a preeclampsia risk, use thereof, and a method for detecting whether a subject has a preeclampsia risk. The method predicts the preeclampsia risk in all pregnant women in the early and middle stages of pregnancy, without distinguishing the population with a high preeclampsia risk. The method can predict the risk before symptoms occur. A variety of free RNAs in the blood are associated with preeclampsia, and by establishing a preeclampsia prediction model with samples from at least 300 cases using the biomarker, the present disclosure can improve the specificity of the preeclampsia prediction model during the pregnancy to 85% or higher.

IPC Classes  ?

• C12Q 1/68 - Measuring or testing processes involving enzymes, nucleic acids or microorganismsCompositions thereforProcesses of preparing such compositions involving nucleic acids

Abstract

A method and apparatus for determining loss-of-function evidence of pathogenicity. The method comprises: according to the effect of a target variant on transcription, obtaining the category of the target variant; according to the category of the target variant, determining the effect of the target variant on a target gene function; and according to the result obtained of the effect of the target variant on the target gene function, determining whether target variant information is loss-of-function evidence of pathogenicity of the target variant. By means of the category of the target variant, the effect of the target variant on the target gene function can be quickly determined. Furthermore, according to the result of the effect of the target variant on the target gene function, it can be determined whether the target variant information is loss-of-function evidence of pathogenicity of the target variant, thereby determining the loss-of-function evidence of pathogenicity.

IPC Classes  ?

• G16B 20/50 - Mutagenesis

Abstract

The present invention belongs to the field of bio-pharmaceuticals. Disclosed are a differentially methylated region of an ADHFE1 gene, a detection primer, a probe, a kit, and use of the differentially methylated region in the detection of colorectal cancer or precancerous lesions of colorectal cancer and in the evaluation of prognostic risks of colorectal cancer patients. The differentially methylated region is chr8:67344198-67345563. The differentially methylated region of the present invention can be used for effectively detecting colorectal cancer or precancerous lesions of colorectal cancer, or for evaluating prognostic risks of colorectal cancer patients.

IPC Classes  ?

• C12Q 1/6886 - Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material for cancer
• C12N 15/11 - DNA or RNA fragmentsModified forms thereof
• C12Q 1/6858 - Allele-specific amplification

Abstract

Provided are a combination of differentially methylated regions, a kit, and use thereof. The combination of differentially methylated regions comprises the following differentially methylated regions: (1) chr8: 145106171-145107467 and (2) chr8:67344198-67345563. The combination of differentially methylated regions can be used for effective detection of colorectal cancer or precancerous lesions of colorectal cancer, or for evaluating prognostic risks of colorectal cancer patients, exhibiting high sensitivity and specificity.

IPC Classes  ?

• C12Q 1/6886 - Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material for cancer
• G01N 33/574 - ImmunoassayBiospecific binding assayMaterials therefor for cancer

Abstract

The present application discloses a differential methylation region of the OPLAH gene, a kit, and use. Specifically, the differential methylation region is chr8:145106171-145107467. The differential methylation region of the present application can be used for effectively detecting colorectal cancer or precancerous lesions of colorectal cancer, or evaluating prognostic risks to colorectal cancer patients.

IPC Classes  ?

• C12Q 1/68 - Measuring or testing processes involving enzymes, nucleic acids or microorganismsCompositions thereforProcesses of preparing such compositions involving nucleic acids
• C12N 15/11 - DNA or RNA fragmentsModified forms thereof

Abstract

Provided are a composition, kit, and application for the detection of colorectal cancer. The provided composition contains reagents for detecting methylation status of ADHFE1 gene, PPP2R5C gene, and SDC2 gene. The composition can be used for detecting colorectal cancer with high sensitivity and specificity.

IPC Classes  ?

• C12Q 1/6886 - Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material for cancer

Abstract

The present application discloses a method and apparatus for detecting fetal chromosomal aneuploidy, and a storage medium. The method for detecting fetal chromosomal aneuploidy of the present application comprises: according to the concentration of fetal DNA in the cell-free DNA in the blood of a pregnant woman to be tested, a Z value, and chimerism, calculating a new Z value of the sample to be tested, and according to the new Z value, determining whether an aneuploidy abnormality has occurred in fetal chromosomes, the chimerism being the ratio of abnormal fetal cells to all fetal cells. In the present application, chimerism is inventively applied to fetal chromosomal aneuploidy detection, and three variables, i.e., the fetal DNA concentration, the chimerism, and the Z value, are taken into consideration to calculate the new Z value, such that NIPT accuracy can be improved, and true positive and false positive samples can be distinguished well, thereby reducing false positive samples; and the new Z value conforms to a normal distribution, such that the current supervision and clinical use requirements can be met, and data distribution fluctuations are reduced, thereby reducing the gray scale rate and the retest rate, and improving the stability of the test result.

IPC Classes  ?

• G16B 20/20 - Allele or variant detection, e.g. single nucleotide polymorphism [SNP] detection
• G16B 40/00 - ICT specially adapted for biostatisticsICT specially adapted for bioinformatics-related machine learning or data mining, e.g. knowledge discovery or pattern finding
• G16B 30/00 - ICT specially adapted for sequence analysis involving nucleotides or amino acids

Abstract

Provided are an NLP-based method for constructing a variant literature interpretation knowledge base, an interpretation method, and an electronic device. The method for constructing the variant literature interpretation knowledge base includes: obtaining disease-related literature; constructing, based on the disease-related literature, a database of entities associated with genes and variants; constructing a literature evidence knowledge graph for interpretation of variant literature; and performing evidence extraction on the literature evidence knowledge graph to obtain evidence corresponding to an entity, and constructing, based on the evidence and the database, the variant literature interpretation knowledge base. In this way, the literature evidences can be more comprehensive and systematic. Thus, during interpretation, evidence standard or evidence type result based on literature reading can be automatically returned upon inputting an entity name, thereby achieving the automation and intelligence for obtaining disease variant literature evidence, and the interpretation speed related to genes and variants is effectively improved.

IPC Classes  ?

• G16H 70/60 - ICT specially adapted for the handling or processing of medical references relating to pathologies
• G06N 5/022 - Knowledge engineeringKnowledge acquisition
• G06N 20/00 - Machine learning

Abstract

Provided is a method for constructing a prediction model used for predicting a pregnancy status of a pregnant woman. The method includes: step 1 of constructing a training set and an optional test set, the training set and the optional test set each consisting of a plurality of pregnant woman samples, the pregnant woman samples each having a known pregnancy status; step 2 of determining, for each pregnant woman sample in the training set, a predetermined parameter of the pregnant woman sample, the predetermined parameter including differentially expressed gene information of the pregnant woman sample, the differentially expressed gene information being obtained through calculation based on sequencing information of fetal cell-free nucleic acids in peripheral blood of the pregnant woman sample; and step 3 of constructing the prediction model based on the known pregnancy status and the predetermined parameter.

IPC Classes  ?

• G16B 30/00 - ICT specially adapted for sequence analysis involving nucleotides or amino acids
• G16B 40/20 - Supervised data analysis
• G16H 50/20 - ICT specially adapted for medical diagnosis, medical simulation or medical data miningICT specially adapted for detecting, monitoring or modelling epidemics or pandemics for computer-aided diagnosis, e.g. based on medical expert systems

Abstract

A scoring model for evaluating a tumor immune microenvironment and a construction method therefor, which relate to the field of biological information. In the scoring model constructed by means of the method, the levels of immune components of a tumor microenvironment are comprehensively measured. The model focuses on the difference between the levels of various immune cell components and the average levels thereof, and the level differences which are difficult to superpose are converted into a probability model, thereby solving the problem of infiltration level dimensions being uneven.

IPC Classes  ?

• G01N 33/574 - ImmunoassayBiospecific binding assayMaterials therefor for cancer

Abstract

The present invention provides an application of a gene marker in prediction of a premature birth risk of a pregnant woman. The present invention provides a method for predicting premature birth of premature rupture of membranes of a pregnant woman and a spontaneous premature birth risk of unknown reasons, comprising: obtaining an expression profile of a gene marker in a biological sample from a pregnant woman; and on the basis of the expression profile of the gene marker, identifying a premature birth risk of premature rupture of membranes of the pregnant woman and a spontaneous premature birth risk of unknown reasons. The present invention further provides a kit and apparatus for predicting premature birth of premature rupture of membranes of a pregnant woman and a spontaneous premature birth risk of unknown reasons, and a construction method for a premature birth risk prediction model of a pregnant woman, and further provides a storage medium and a processor that relate to a program used for executing a premature birth risk prediction method and a model construction method. By means of the correlation between the expression profile of the gene marker and the premature birth risk of premature rupture of membranes and the spontaneous premature birth of the unknown reasons, the present invention realizes the high-specificity and high-sensitivity risk prediction of the premature birth risk of premature rupture of membranes and the spontaneous premature birth of the unknown reasons.

IPC Classes  ?

• C12Q 1/68 - Measuring or testing processes involving enzymes, nucleic acids or microorganismsCompositions thereforProcesses of preparing such compositions involving nucleic acids

Abstract

The present invention provides a use of a gene marker in predicting the risk of preeclampsia in a pregnant woman. The present invention provides a gene marker or a combination thereof for detecting whether a pregnant woman suffers from preeclampsia or related diseases or predicting the risk that a pregnant woman suffers from preeclampsia or related diseases. The present invention further provides a reagent for detecting a gene marker or a combination thereof, and a method, kit and device for detecting whether a pregnant woman suffers from preeclampsia or related diseases or predicting the risk that a pregnant woman suffers from preeclampsia or related diseases, and further provides a construction method for a model used for detecting whether a pregnant woman suffers from preeclampsia or related diseases or predicting the risk that a pregnant woman suffers from preeclampsia or related diseases. According to the present invention, by means of the correlation between an expression profile of the gene marker and the preeclampsia or related diseases of the pregnant woman, high-specificity and high-sensitivity risk prediction for the preeclampsia or related diseases of the pregnant woman is achieved.

IPC Classes  ?

• C12Q 1/6876 - Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
• G01N 33/48 - Biological material, e.g. blood, urineHaemocytometers
• G01N 33/68 - Chemical analysis of biological material, e.g. blood, urineTesting involving biospecific ligand binding methodsImmunological testing involving proteins, peptides or amino acids
• G16H 10/40 - ICT specially adapted for the handling or processing of patient-related medical or healthcare data for data related to laboratory analysis, e.g. patient specimen analysis

Abstract

A sequence variation analysis method and system, and a storage medium, which relate to the technical field of gene detection. The sequence variation analysis method comprises the following steps: acquiring sequence variation data to be subjected to analysis; performing feature extraction on said sequence variation data, so as to obtain a first variation feature set and a second variation feature set; inputting the first variation feature set into a trained first phenotype relationship prediction model, so as to obtain a first phenotype relationship prediction result, and inputting the second variation feature set into a trained second phenotype relationship prediction model, so as to obtain a second phenotype relationship prediction result; and taking a union of the first phenotype relationship prediction result and the second phenotype relationship prediction result, so as to obtain a third phenotype relationship prediction result.

IPC Classes  ?

• G16B 20/20 - Allele or variant detection, e.g. single nucleotide polymorphism [SNP] detection

Abstract

Disclosed is a nucleic acid detection kit for diagnosing liver cancer. The present invention provides a use of the combination of "methylated OTX1 gene, methylated HIST1H3G gene, alpha-fetoprotein and abnormal prothrombin" as combined markers in the following: diagnosing or screening cancer, warning about cancer before clinical symptoms, and distinguishing or assisting in distinguishing cancer from benign lesions. In the present invention, the methylation of OTX1 gene and HIST1H3G gene and the contents of alpha-fetoprotein and abnormal prothrombin are used as combined markers for liver cancer screening. By detecting the methylation levels of OTX1 gene and HIST1H3G gene and the contents of alpha-fetoprotein and abnormal prothrombin and analyzing obtained data, the possibility of a subject suffering from liver cancer can be predicted, and thus the purpose of screening liver cancer in the general population or in groups at high risk of liver cancer can be achieved.

IPC Classes  ?

• C12Q 1/6886 - Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material for cancer
• C12Q 1/56 - Measuring or testing processes involving enzymes, nucleic acids or microorganismsCompositions thereforProcesses of preparing such compositions involving blood clotting factors, e.g. involving thrombin, thromboplastin, fibrinogen
• C12Q 1/52 - Measuring or testing processes involving enzymes, nucleic acids or microorganismsCompositions thereforProcesses of preparing such compositions involving transferase involving transaminase
• G01N 33/574 - ImmunoassayBiospecific binding assayMaterials therefor for cancer
• G01N 33/72 - Chemical analysis of biological material, e.g. blood, urineTesting involving biospecific ligand binding methodsImmunological testing involving blood pigments, e.g. hemoglobin, bilirubin
• G16B 40/00 - ICT specially adapted for biostatisticsICT specially adapted for bioinformatics-related machine learning or data mining, e.g. knowledge discovery or pattern finding

Abstract

Disclosed in the present invention is a nucleic acid detection kit for diagnosing liver cancer. Provided in the present invention is the use of a methylated OTX1 gene and a methylated HIST1H3G gene as markers in the diagnosis or screening of cancers, early warning of cancers before clinical symptoms, and distinguishing or assisted distinguishing of cancers from benign lesions. According to the present invention, the methylated OTX1 gene and the methylated HIST1H3G gene are used as markers for screening for liver cancer; and by means of detecting the methylation levels of OTX1 gene and HIST1H3G gene and analyzing the obtained data, the possibility of suffering from liver cancer in a subject can be predicted, thereby achieving the purpose of screening for liver cancer in the common population or population at high risk of liver cancer.

IPC Classes  ?

• C12Q 1/6886 - Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material for cancer
• G01N 33/574 - ImmunoassayBiospecific binding assayMaterials therefor for cancer
• G16B 40/00 - ICT specially adapted for biostatisticsICT specially adapted for bioinformatics-related machine learning or data mining, e.g. knowledge discovery or pattern finding

Abstract

An OTX1 methylation marker for detecting liver cancer. Provided is an application of a methylated OTX1 gene as a marker in: diagnosing or screening cancer, pre-warning cancer before clinical symptoms, distinguishing or assisting in distinguishing cancer and benign lesions. The OTX1 gene methylation is used as a marker for screening liver cancer. By detecting a methylation level of the OTX1 gene and analyzing the obtained data, the possibility that a subject suffers from liver cancer can be predicted, and then the purpose of screening the liver cancer in general population or liver cancer high-risk population is achieved.

IPC Classes  ?

• C12Q 1/6886 - Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material for cancer

Abstract

Disclosed in the present invention is an HIST1H3G methylation marker for detecting liver cancer. Provided in the present invention is the use of a methylated HIST1H3G gene as a marker in the following: diagnosing or screening cancer, providing early warning for cancer before clinical symptoms, and distinguishing or assisting in distinguishing cancer from benign lesions. In the present invention, the HIST1H3G gene is methylated as a marker for liver cancer screening. The possibility of a subject suffering from liver cancer can be predicted by means of detecting the methylation level of the HIST1H3G gene and analyzing obtained data, thereby achieving the aim of screening liver cancer in an ordinary population or population with high risk of liver cancer.

IPC Classes  ?

• C12Q 1/6886 - Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material for cancer
• G01N 33/574 - ImmunoassayBiospecific binding assayMaterials therefor for cancer
• G16B 25/00 - ICT specially adapted for hybridisationICT specially adapted for gene or protein expression

Abstract

Provided is a method for determining a pregnancy status of a pregnant woman, including: (1) constructing a training set and a selective verification set, each of the training set and the selective verification set being composed of pregnant woman samples each having a known pregnancy status; (2) determining predetermined parameters of each pregnant woman sample in the training set, the predetermined parameters including a concentration of fetal cell-free nucleic acids in peripheral blood and a gestational age in week at which sampling for the peripheral blood is conducted; (3) constructing a prediction model based on the known pregnancy status and the predetermined parameters; (4) determining predetermined parameters of the pregnant woman; and (5) determining the pregnancy status of the pregnant woman based on the predetermined parameters and the constructed prediction model.

IPC Classes  ?

• G06N 5/022 - Knowledge engineeringKnowledge acquisition
• G16B 20/00 - ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations

Abstract

The present invention provides a probe set, comprising a first set of probes. The first set of probes further comprises a first probe, a second probe, and a third probe. A nucleic acid sequence of the first probe comprises: 5'-CAGACTTCTCCTCAGGAG-3'(SEQ ID NO: 1), or a nucleic acid sequence having at least 70%, at least 75%, at least 80%, at least 85%, at least 90%, at least 95%, and at least 99% identity to the nucleic acid sequence shown in SEQ ID NO: 1. A nucleic acid sequence of the second probe comprises: 5'-CAGACTTCTCCACAGGA-3'(SEQ ID NO: 2), or a nucleic acid sequence having at least 70%, at least 75%, at least 80%, at least 85%, at least 90%, at least 95%, and at least 99% identity to the nucleic acid sequence shown in SEQ ID NO: 2. A nucleic acid sequence of the third probe comprises: 5'-CAGACTTCTCCTTAGGAG-3'(SEQ ID NO: 3), or a nucleic acid sequence having at least 70%, at least 75%, at least 80%, at least 85%, at least 90%, at least 95%, and at least 99% identity to a nucleic acid sequence shown in SEQ ID NO: 3.

IPC Classes  ?

• C12Q 1/6883 - Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
• C12Q 1/6858 - Allele-specific amplification
• C12N 15/11 - DNA or RNA fragmentsModified forms thereof

Abstract

A gene sequencing analysis method and apparatus, and a storage medium and a computer device. The method comprises: firstly, performing slicing processing on a short sequence which is transmitted from a sequencing platform in real time, so as to obtain corresponding slice processing; and then inputting slice data into a memory, so as to call a pre-loaded encapsulation program from the memory to perform bioinformatic analysis on the slice data, so as to obtain a corresponding analysis result. During the process, there is no need to wait for a sequencing platform to fully complete sequencing and then transmit an entire sequencing result to a corresponding platform for processing and analysis, slice data sequenced by the sequencing platform is acquired in real time, and streaming sequencing and analysis are performed on the slice data, such that the sequencing and analysis processes can be accelerated as a whole; and the data during analysis is slice data, such that the slice data has faster transmission speed and less time consumption relative to the entire sequencing result.

IPC Classes  ?

• G16B 30/00 - ICT specially adapted for sequence analysis involving nucleotides or amino acids
• G16B 50/00 - ICT programming tools or database systems specially adapted for bioinformatics
• G06F 9/50 - Allocation of resources, e.g. of the central processing unit [CPU]

Abstract

Provided are a composition, kit, and application for the detection of colorectal cancer. The provided composition contains reagents for detecting methylation status of ADHFE1 gene, PPP2R5C gene, and SDC2 gene. The composition can be used for detecting colorectal cancer with high sensitivity and specificity.

IPC Classes  ?

• C12Q 1/6858 - Allele-specific amplification
• C12Q 1/6886 - Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material for cancer

Abstract

Provided are a composition, a kit, and an application for the detection of colorectal cancer. The provided composition contains a reagent used for detecting the methylation state of the ADHFE1 gene, PPP2R5C gene, and SDC2 gene, and can be used for the detection of colorectal cancer, having high sensitivity and specificity.

IPC Classes  ?

• C12Q 1/6886 - Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material for cancer
• C12Q 1/6858 - Allele-specific amplification
• C12N 15/11 - DNA or RNA fragmentsModified forms thereof

Goods & Services

Scientific research; scientific laboratory services; medical laboratory services; biomedical research services; chemical research; bacteriological research; biological research; genetic testing for scientific research purposes; DNA screening for scientific research purposes. Dna screening for medical purposes; diagnosis of diseases; medical screening; medical assistance services; providing medical information; medical analysis services for diagnostic and treatment purposes provided by medical laboratories; genetic testing for medical purposes; medical analysis services for the diagnosis of cancer; telemedicine services; medical analysis services relating to the treatment of patients.

Goods & Services

Scientific research; scientific laboratory services; medical laboratory services; biomedical research services; chemical research; bacteriological research; biological research; genetic testing for scientific research purposes; dna screening for scientific research purposes. Dna screening for medical purposes; diagnosis of diseases; medical screening; medical assistance services; providing medical information; medical analysis services for diagnostic and treatment purposes provided by medical laboratories; genetic testing for medical purposes; medical analysis services for the diagnosis of cancer; telemedicine services; medical analysis services relating to the treatment of patients.

Abstract

A method and device for determining the immunity index of an individual, an electronic device, and a machine-readable storage medium. The method comprises: acquiring nucleic acid sequencing data of an individual to be tested (S100); determining a V/J sequence and a CDR sequence contained in a nucleic acid sample by comparing a sequencing result with a reference sequence (S200); determining statistical features on the basis of the V/J sequence and the CDR sequence contained in the nucleic acid sample (S300), the statistical features comprising at least one selected from among the following: the usage diversity index of a V/J gene, the diversity index of immune cells, the number of immune cell types, and the homogeneity index of immune cells; determining an immune age value of the individual on the basis of the statistical features (S400); and determining the immunity index of the individual on the basis of the immune age value (S500). The method for determining the immunity index of an individual can be implemented by using a small number of samples by sequencing.

IPC Classes  ?

• G16H 50/30 - ICT specially adapted for medical diagnosis, medical simulation or medical data miningICT specially adapted for detecting, monitoring or modelling epidemics or pandemics for calculating health indicesICT specially adapted for medical diagnosis, medical simulation or medical data miningICT specially adapted for detecting, monitoring or modelling epidemics or pandemics for individual health risk assessment

Abstract

An NLP-based method for constructing a variation literature interpretation knowledge base, and an interpretation method and an electronic device. The method for constructing a variation literature interpretation knowledge base comprises the following steps: acquiring disease-related literature; on the basis of the disease-related literature, constructing a database of entities related to genetic variation; constructing a literature evidence knowledge graph for the interpretation of variation literature; and performing evidence extraction on the literature evidence knowledge graph to obtain evidence corresponding to the entities, and constructing a variation literature interpretation knowledge base according to the evidence and the database. Therefore, literature evidence can be more comprehensive and systematic, and thus, during interpretation, an evidence standard or evidence type result based on literature reading can be automatically returned upon inputting an entity name, such that the second-level return of a literature query result is realized, thereby greatly improving the quality and efficiency of literature search.

IPC Classes  ?

• G06F 16/33 - Querying
• G06F 40/279 - Recognition of textual entities
• G06F 40/211 - Syntactic parsing, e.g. based on context-free grammar [CFG] or unification grammars
• G06N 5/02 - Knowledge representationSymbolic representation

Goods & Services

(1) Scientific research in the field of genetics and genetic engineering; scientific research laboratories for conducting research in the field of cancer, cancer prevention and cancer diagnosis; medical research laboratory services; biomedical research services; chemical research; bacteriological research; research services in the field of genetics, namely, the analysis of biological tissue; genetic testing for scientific research purposes; DNA screening for scientific research purposes. (2) DNA screening for medical purposes; diagnosis of diseases; medical screening; emergency medical assistance; medical diagnostic services; providing medical information in the field of cancer genetics; medical analysis services for diagnostic and treatment purposes provided by medical laboratories; genetic testing for medical purposes; medical analysis services for the diagnosis of cancer; telemedicine services; medical analysis services relating to the treatment of patients.

Goods & Services

(1) Scientific research in the field of genetics and genetic engineering; scientific research laboratories for conducting research in the field of cancer, cancer prevention and cancer diagnosis; medical laboratory services; biomedical research services; chemical research; bacteriological research; research services in the field of genetics, namely, the analysis of biological tissue; genetic testing for scientific research purposes; dna screening for scientific research purposes. (2) Dna screening for medical purposes; diagnosis of diseases; medical screening; emergency medical assistance; medical diagnostic services; providing medical information in the field of cancer genetics; medical analysis services for diagnostic and treatment purposes provided by medical laboratories; genetic testing for medical purposes; medical analysis services for the diagnosis of cancer; telemedicine services; medical analysis services relating to the treatment of patients.

Goods & Services

Scientific research; scientific laboratory services; medical laboratory services; biomedical research services; chemical research; bacteriological research; biological research; genetic testing for scientific research purposes; dna screening for scientific research purposes Dna screening for medical purposes; performing diagnosis of diseases; medical screening; medical assistance services; providing medical information; medical analysis services for diagnostic and treatment purposes provided by medical laboratories; genetic testing for medical purposes; medical analysis services for the diagnosis of cancer; telemedicine services; medical analysis services relating to the treatment of patients

Goods & Services

Scientific research; scientific laboratory services; medical laboratory services; biomedical research services; chemical research; bacteriological research; biological research; genetic testing for scientific research purposes; dna screening for scientific research purposes. Dna screening for medical purposes; diagnosis of diseases; medical screening; medical assistance services; providing medical information; medical analysis services for diagnostic and treatment purposes provided by medical laboratories; genetic testing for medical purposes; medical analysis services for the diagnosis of cancer; telemedicine services; medical analysis services relating to the treatment of patients.

Goods & Services

Scientific research; scientific laboratory services; medical laboratory services; biomedical research services; chemical research; bacteriological research; biological research; genetic testing for scientific research purposes; dna screening for scientific research purposes. Dna screening for medical purposes; diagnosis of diseases; medical screening; medical assistance services; providing medical information; medical analysis services for diagnostic and treatment purposes provided by medical laboratories; genetic testing for medical purposes; medical analysis services for the diagnosis of cancer; telemedicine services; medical analysis services relating to the treatment of patients.

Goods & Services

Scientific research; scientific laboratory services; medical laboratory services; biomedical research services; chemical research; bacteriological research; biological research; genetic testing for scientific research purposes; DNA screening for scientific research purposes. Dna screening for medical purposes; diagnosis of diseases; medical screening; medical assistance services; providing medical information; medical analysis services for diagnostic and treatment purposes provided by medical laboratories; genetic testing for medical purposes; medical analysis services for the diagnosis of cancer; telemedicine services; medical analysis services relating to the treatment of patients.

Goods & Services

Scientific research; scientific laboratory services; medical laboratory services; biomedical research services; chemical research; bacteriological research; biological research; genetic testing for scientific research purposes; DNA screening for scientific research purposes Dna screening for medical purposes; performing diagnosis of diseases; medical screening; medical assistance services; providing medical information; medical analysis services for diagnostic and treatment purposes provided by medical laboratories; genetic testing for medical purposes; medical analysis services for the diagnosis of cancer; telemedicine services; medical analysis services relating to the treatment of patients

Goods & Services

Scientific research; scientific laboratory services; medical laboratory services; biomedical research services; chemical research; bacteriological research; biological research; genetic testing for scientific research purposes; dna screening for scientific research purposes. Dna screening for medical purposes; diagnosis of diseases; medical screening; medical assistance services; providing medical information; medical analysis services for diagnostic and treatment purposes provided by medical laboratories; genetic testing for medical purposes; medical analysis services for the diagnosis of cancer; telemedicine services; medical analysis services relating to the treatment of patients.

Goods & Services

Scientific research; scientific laboratory services; medical laboratory services; biomedical research services; chemical research; bacteriological research; biological research; genetic testing for scientific research purposes; DNA screening for scientific research purposes. Dna screening for medical purposes; diagnosis of diseases; medical screening; medical assistance services; providing medical information; medical analysis services for diagnostic and treatment purposes provided by medical laboratories; genetic testing for medical purposes; medical analysis services for the diagnosis of cancer; telemedicine services; medical analysis services relating to the treatment of patients.

Goods & Services

Scientific research; scientific laboratory services; medical laboratory services; biomedical research services; chemical research; bacteriological research; biological research; genetic testing for scientific research purposes; DNA screening for scientific research purposes. Dna screening for medical purposes; diagnosis of diseases; medical screening; medical assistance services; providing medical information; medical analysis services for diagnostic and treatment purposes provided by medical laboratories; genetic testing for medical purposes; medical analysis services for the diagnosis of cancer; telemedicine services; medical analysis services relating to the treatment of patients.

Abstract

A method and device for determining a degree of association with genes. Record data of target records of association of a disease description entry with a plurality of genes is determined from preset association databases, and the record data is input to a preset entry-gene association matrix to determine scores of association of the disease description entry with the plurality of genes in the preset association databases, thereby quickly obtaining degrees of association of the disease description entry with the plurality of genes.

IPC Classes  ?

• G06F 16/33 - Querying
• G06F 40/295 - Named entity recognition
• G06K 9/62 - Methods or arrangements for recognition using electronic means
• G16H 50/70 - ICT specially adapted for medical diagnosis, medical simulation or medical data miningICT specially adapted for detecting, monitoring or modelling epidemics or pandemics for mining of medical data, e.g. analysing previous cases of other patients
• G16B 50/00 - ICT programming tools or database systems specially adapted for bioinformatics

Abstract

A non-invasive prenatal genetic testing data-based kinship determining method and apparatus, the method comprising: comparing, with a mother's non-invasive prenatal genetic testing sequencing database, whole genome sequencing data of a child to be tested; extracting a set of trusted bases of each potential mother and said child on a specified site set; calculating the genetic similarity between said child and each potential mother on the basis of the set of trusted bases; calculating the kindred probability between said child and each potential mother according to the genetic similarity, and forming a kindred probability matrix; and determining the exact kinship between said child and each potential mother according to the kindred probability matrix. Kinship information in non-invasive prenatal genetic testing data is mined by comparing a non-invasive prenatal genetic testing data set and the gene sequence obtained by whole gene sequencing of children.

IPC Classes  ?

• C12Q 1/6888 - Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for detection or identification of organisms
• C12Q 1/6869 - Methods for sequencing

Abstract

A quick-building-type test laboratory for medical test. The quick-building-type test laboratory comprises: a plurality of compartments, wherein the compartments are quick-building-type compartments, and one or more test chains are formed between the plurality of compartments. Each test chain comprises: a sample unpacking area (1), a sample sampling area (2), a sample extraction area (3), and a nucleic acid amplification test area (4). Each test chain is provided with an extraction reagent and an amplification reagent by a reagent preparation area (5). The number of compartments can be adjusted according to the test throughput of the quick-building-type test laboratory.

IPC Classes  ?

• E04H 3/08 - Hospitals, infirmaries, or the likeSchoolsPrisons
• E04H 1/12 - Small buildings or other erections for limited occupation, erected in the open air or arranged in buildings, e.g. kiosks, waiting shelters for bus stops or for filling stations, roofs for railway platforms, watchmen's huts or dressing cubicles
• B01L 1/00 - EnclosuresChambers

Abstract

A gene sequencing data processing method and device. The method is applied to the device. The device comprises an ARM framework, a PCI bus and a GPU framework which are connected in sequence. The ARM framework comprises at least one CPU module. The GPU framework comprises at least one GPU module. The method comprises: a CPU module in an idle state reading gene sequencing data in batches, and dividing a gene analysis method into a first algorithm and a second algorithm; segmenting the batch gene sequencing data by using the first algorithm, and sending each obtained short sequence and the second algorithm to a GPU module in an idle state; the GPU module in the idle state calculating each short sequence according to the second algorithm and sending the calculation result to the CPU module in the idle state; the CPU module in the idle state calculating according to the calculation result and the first algorithm to obtain the batch processing result. According to the method, the analysis method is divided and operated in the CPU module and the GPU module, greatly improving the data analysis efficiency.

IPC Classes  ?

• G16B 30/10 - Sequence alignmentHomology search
• G06F 13/42 - Bus transfer protocol, e.g. handshakeSynchronisation
• G06F 9/50 - Allocation of resources, e.g. of the central processing unit [CPU]

Abstract

A method for constructing a prediction model. The prediction model is used for predicting the pregnancy state of a pregnant woman. The method comprises: (1) constructing a training set and an optional test set, wherein the training set and the optional test set are composed of a plurality of pregnant women samples, and the pregnant women samples have known pregnancy states; (2) for each pregnant woman sample of the training set, determining a predetermined parameter of the pregnant woman sample, wherein the predetermined parameter comprises differentially expressed gene information of the pregnant woman sample, and the differentially expressed gene information is obtained by means of calculating sequencing information of fetal cell-free nucleic acids in peripheral blood of the pregnant woman sample; and (3) constructing a prediction model on the basis of the known pregnancy states and the predetermined parameter.

IPC Classes  ?

• C12Q 1/6809 - Methods for determination or identification of nucleic acids involving differential detection
• C12Q 1/6881 - Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for tissue or cell typing, e.g. human leukocyte antigen [HLA] probes

Abstract

A shared memory-based gene analysis method and apparatus, and a computer device. The method comprises: reading sample data, and preprocessing the sample data; performing gene analysis on the preprocessed sample data; and if a required library file is in a gene shared memory in the gene analysis process, obtaining the library file from the gene shared memory, mapping the library file to the gene analysis process of the sample data, and completing corresponding analysis. According to the method, an index of gene analysis is established by utilizing a shared memory mechanism, and whether a database file (namely, a library file) with higher use frequency in the gene analysis process is stored in a gene shared memory or not is determined; if yes, the library file is obtained from the shared memory, the library file is mapped to the sample number to be stored in the gene shared memory, the library file can be conveniently mapped to the analysis process of the sample data from the gene shared memory, on one hand, the time for loading the library file from a magnetic disk and an I/O proportion are reduced, and the analysis efficiency is improved.

IPC Classes  ?

• G16B 50/00 - ICT programming tools or database systems specially adapted for bioinformatics
• G06F 9/54 - Interprogram communication

Abstract

A vehicle-mounted pull-out detection laboratory (10) for virus detection and a vehicle (100), the vehicle-mounted pull-out detection laboratory (10) comprising: a device bin (1); a support frame body (2), the device bin (1) being provided within the support frame body (2), the support frame body (2) being provided with a plurality of support feet (4), and the support feet (4) having a ground clearance state and a ground supporting state; and a plurality of experiment bins (31, 32), the plurality of experiment bins (31, 32) being in a pull-out connection with the support frame body (2).

IPC Classes  ?

• B60P 3/00 - Vehicles adapted to transport, to carry or to comprise special loads or objects
• B60H 1/00 - Heating, cooling or ventilating devices
• B60H 3/06 - Filtering
• B60S 9/02 - Ground-engaging vehicle fittings for supporting, lifting, or manoeuvring the vehicle, wholly or in part, e.g. built-in jacks for only lifting or supporting

Abstract

Provided is a base mutation detection method, which includes: determining an initial frequency of sequencing data of samples being a specific base at an interested locus; calculating, based on the initial frequency, an expected value of each sample being the specific base at the interested locus; updating the initial frequency of the sequencing data of the samples being the specific base at the interested locus; further calculating the expected value of each sample being the specific base at the interested locus, further updating the initial frequency of the sequencing data of the samples being the specific base at the interested locus, and repeating the foregoing iteration until the expected value of each sample being the specific base at the interested locus converges; and determining, based on each converging expected value, a base mutation type and a mutation confidence at the interested locus of each sample.

IPC Classes  ?

• G16B 40/00 - ICT specially adapted for biostatisticsICT specially adapted for bioinformatics-related machine learning or data mining, e.g. knowledge discovery or pattern finding
• G06N 7/01 - Probabilistic graphical models, e.g. probabilistic networks
• G16B 20/20 - Allele or variant detection, e.g. single nucleotide polymorphism [SNP] detection

Abstract

A vehicle-mounted foldable testing laboratory (100) for virus testing, comprising: an equipment compartment (10); and at least one foldable plate assembly. The foldable plate assembly is provided on at least one side of the equipment compartment (10); the foldable plate assembly has an unfolded position and a storage position; when the foldable plate assembly is located at the unfolded position, the foldable plate assembly defines a plurality of experiment compartments; when the foldable plate assembly is located at the storage position, the foldable plate assembly is stacked on the equipment compartment (10); the foldable plate assembly comprises a first foldable plate assembly (20) and a second foldable plate assembly (40); the first foldable plate assembly (20) is provided at a first side (101) of the equipment compartment (10); the second foldable plate assembly (40) is provided at a second side (102). The present invention also relates to a vehicle. According to the vehicle-mounted foldable testing laboratory, a testing laboratory can be quickly constructed in an epidemic situation, and time for constructing the testing laboratory can be saved, thereby facilitating prevention and control of epidemics; moreover, when the vehicle-mounted foldable testing laboratory is not used, the area occupied by the vehicle-mounted foldable testing laboratory can be reduced.

IPC Classes  ?

• B60P 3/00 - Vehicles adapted to transport, to carry or to comprise special loads or objects

Abstract

Provided are an RNA library construction method and a specialized kit thereof. The method for preparing an RNA library includes the following steps: extracting RNA and performing fragmentation; adding a tail to 3′ end; ligating an adaptor to 5′ end and hybridizing with a DNA probe mixture; the DNA probe mixture is composed of several DNA probes that are reverse complementary to an RNA that is expected to be removed; removing RNA from the hybrid and removing DNA; performing reverse transcription and PCR amplification to obtain a library solution. The present invention combines polyA tailing and 5′end ligation. The RNA content in the system can be quickly increased by polyA tailing, thereby avoiding subsequent purification losses.

IPC Classes  ?

• C12N 15/10 - Processes for the isolation, preparation or purification of DNA or RNA
• C12Q 1/6876 - Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes

Goods & Services

data processing apparatus; computer software platforms, recorded or downloadable; computer programs, downloadable; interactive touch screen terminals; computer servers; computers; computer memory devices; computer network-attached storage [NAS] hardware; network servers; graphics processing units [GPUs]. cases fitted for medical instruments; apparatus for use in medical analysis; testing apparatus for medical purposes; diagnostic apparatus for medical purposes; apparatus for DNA and RNA testing for medical purposes; analyzers for bacterial identification for medical purposes; medical apparatus for detecting gene; medical apparatus and instruments; radiological apparatus for medical purposes; incubators for medical purposes. technological research; scientific laboratory services; computer rental; computer security threat analysis for protecting data; biological research; medical research; research in the field of artificial intelligence; platform as a service [PaaS]; server hosting; software as a service [SaaS]; cloud computing; electronic data storage; data encryption services; computer system design; information technology [IT] consultancy; maintenance of computer software; data security consultancy; monitoring of computer systems for detecting unauthorized access or data breach; data encryption and decoding services; installation, repair and maintenance of computer software; information technology services provided on an outsourcing basis; computer programming in the medical field. telemedicine services; medical clinic services; health counselling; medical screening; medical analysis services for diagnostic and treatment purposes provided by medical laboratories; medical equipment rental; medical information; genetic testing for medical purposes; health care; dietary and nutritional advice.

Goods & Services

data processing apparatus; computer software platforms, recorded or downloadable; computer programs, downloadable; interactive touch screen terminals; laptop computers; downloadable software applications for mobile phones; computer servers; computers; chemistry apparatus and instruments; computer memory devices. computer rental; scientific laboratory services; research and development of new products for others; platform as a service [PaaS]; server hosting; software as a service [SaaS]; cloud computing; electronic data storage; data encryption services; information technology services provided on an outsourcing basis; computer system design; information technology [IT] consultancy; maintenance of computer software; data security consultancy; monitoring of computer systems for detecting unauthorized access or data breach; updating of computer software; technological research; chemical research; biological research; medical research. telemedicine services; medical clinic services; health counselling; medical screening; medical analysis services for diagnostic and treatment purposes provided by medical laboratories; medical equipment rental; medical consultation; human tissue bank services; health care; dietary and nutritional advice.

Abstract

A method for determining the pregnancy status of a pregnant woman, comprising: (1) constructing a training set and an optional verification set, the training set and the optional verification set being respectively composed of a plurality of pregnant woman samples, and the pregnant woman samples having known pregnancy statuses; (2) for each pregnant woman sample of the training set, determining predetermined parameters of the pregnant woman sample, the predetermined parameters comprising the fetal free nucleic acid concentration in the peripheral blood of the pregnant woman and the number of weeks of pregnancy during the sampling of the peripheral blood of the pregnant woman; (3) constructing a prediction model on the basis of the known pregnancy statuses and the predetermined parameters; (4) determining predetermined parameters of a pregnant woman, the predetermined parameters comprising the fetal free nucleic acid concentration in the peripheral blood of the pregnant woman and the number of weeks of pregnancy during the sampling of the peripheral blood of the pregnant woman; and (5) determining the pregnancy status of the pregnant woman on the basis of the predetermined parameters and the constructed prediction model.

IPC Classes  ?

• C12Q 1/00 - Measuring or testing processes involving enzymes, nucleic acids or microorganismsCompositions thereforProcesses of preparing such compositions

Abstract

Disclosed are a virus detection laboratory with an inflatable membrane structure, a biosafety laboratory, and a virus detection laboratory with an earth-sheltered structure. The laboratory comprises: an inflatable membrane structure, which inflatable membrane structure can be inflated to form a clean area, a buffer unit and a high contamination area; an entrance equipment integration module comprising an entrance door; and an exit equipment integration module comprising a waste transfer box. The laboratory further comprises a bidirectional heat exchange fresh air ventilator to form a negative pressure environment in the high contamination area. By means of providing the entrance equipment integration module and the exit equipment integration module, the modular design of the laboratory can be achieved, which facilitates the centralized management of equipment. In addition, the inflatable membrane structure can be inflated to form a house body or a tubular body, which facilitates the rapid construction of the virus detection laboratory with an inflatable membrane structure, such that the virus detection laboratory with an inflatable membrane structure can be available to use as soon as possible. Moreover, the high contamination area is a negative pressure environment, which ensures safety during use when performing virus detection.

IPC Classes  ?

• E04H 5/02 - Buildings or groups of buildings for industrial purposes, e.g. for power-plants or factories
• B01L 1/00 - EnclosuresChambers
• E04G 3/00 - Scaffolds essentially supported by building constructions, e.g. adjustable in height

Abstract

A pneumatic membrane structure (100) virus test laboratory and an earth-sheltered structure virus test laboratory, comprising: a plurality of pneumatic membrane structures (100). Each pneumatic membrane structure (100) can form, after being inflated, a primary space unit (110) used as a main functional area and one or more secondary space units (120) used as auxiliary functional areas; wherein the primary space units (110) are communicated with each other by means of the secondary space units (120); the primary space unit (110) in each pneumatic membrane structure (100) is provided with a one-way air inlet (141); an inner opening/closing door (131) in each pneumatic membrane structure (100) is provided with a one-way ventilation port (142) having a filtering device; and the side surface, adjacent to the inner opening/closing door (131), in each secondary space unit (120) is provided with a one-way air outlet (143) having a filtering device and used for exhausting air outwards. A pneumatic positive pressure structure is adopted, and positive pressure pneumatic membrane structures (100) are combined with a prefabricated construction system, so that a building supporting structure is simplified and the sealing of the whole system is also ensured. Therefore, the pneumatic membrane structure virus test laboratory can be rapidly deployed without foundation construction, is especially beneficial to dealing with emergencies during epidemic outbreak, and can be rapidly arranged in required places.

IPC Classes  ?

• E04H 3/08 - Hospitals, infirmaries, or the likeSchoolsPrisons
• E04B 1/343 - Structures characterised by movable, separable, or collapsible parts, e.g. for transport
• F24F 5/00 - Air-conditioning systems or apparatus not covered by group or
• F24F 3/16 - Air-conditioning systems in which conditioned primary air is supplied from one or more central stations to distributing units in the rooms or spaces where it may receive secondary treatmentApparatus specially designed for such systems characterised by the treatment of the air otherwise than by heating and cooling by purification, e.g. by filteringAir-conditioning systems in which conditioned primary air is supplied from one or more central stations to distributing units in the rooms or spaces where it may receive secondary treatmentApparatus specially designed for such systems characterised by the treatment of the air otherwise than by heating and cooling by sterilisationAir-conditioning systems in which conditioned primary air is supplied from one or more central stations to distributing units in the rooms or spaces where it may receive secondary treatmentApparatus specially designed for such systems characterised by the treatment of the air otherwise than by heating and cooling by ozonisation
• F24F 13/28 - Arrangement or mounting of filters
• F24F 7/007 - Ventilation with forced flow

Goods & Services

Chemical preparations for scientific purposes, other than for medical or veterinary use; chemical substances for analyses in laboratories, other than for medical or veterinary purposes; diagnostic reagents and preparations, except for medical or veterinary use; diagnostic preparations, other than for medical or veterinary purposes; test paper, chemical; chemical reagents, other than for medical or veterinary purposes; biological preparations, other than for medical or veterinary purposes; preparations of microorganisms, other than for medical and veterinary use; bacterial preparations, other than for medical and veterinary use; biochemical preparations for scientific purposes. Reagents for gene detection for medical purposes; diagnostic preparations for medical or veterinary purposes; diagnostic preparations for medical purposes; preparations for detecting genetic predispositions for medical purposes; preparations for detecting mutation in prion genes for medical purposes; diagnostic biomarker reagents for medical purposes; chemico-pharmaceutical preparations; medical diagnostic reagents for the analysis of immune system; chemical reagents for medical or veterinary purposes; enzyme preparations for medical purposes. Scientific laboratory services; medical research services; medical laboratory services; scientific research for medical purposes in the area of cancerous diseases; biological research; dna screening for scientific research purposes; structural and functional analysis of genomes; blood analysis services; genetic testing for scientific research purposes; computer programming in the medical field. Bowel cancer screening services; medical screening; medical analysis services for diagnostic and treatment purposes provided by medical laboratories; medical assistance; genetic screening for medical purposes; medical analysis services for the diagnosis of cancer; performing diagnosis of diseases; genetic testing for medical purposes; providing medical information from a web site; dna screening for medical purposes.

Abstract

A copy number variation (CNV) detection method and device based on blood circulating tumor DNA. The CNV detection method comprises: obtaining sequencing data of an area to be detected of blood circulating tumor DNA of a sample to be tested, wherein the sequencing data comprises sequencing depth information of said area; calculating a ratio of average sequencing depth of each sub-capture area to the corresponding anchor area in said sample; comparing the ratio of average sequencing depth of each sub-capture area to the corresponding anchor area in said sample with a CNV detection model and calculating significance; and determining CNV of said area of said sample according to the significance calculation result. A plurality of anchor areas are found for a capture area corresponding to each CNV gene to be tested, and when the relative depth of a CNV area to be detected is calculated, the whole area is replaced with the anchor area, thereby effectively reducing the difference of the copy number of said area among different training samples, and greatly improving the detection sensitivity of small fragment CNV.

IPC Classes  ?

• C12Q 1/68 - Measuring or testing processes involving enzymes, nucleic acids or microorganismsCompositions thereforProcesses of preparing such compositions involving nucleic acids

Abstract

Provided are a method and a device for determining fetal nucleic acid concentration in the blood of a pregnant woman. The method comprises: (1) determining first genotype information based on a comparison of the sequencing data with at least a portion of the reference genome, wherein the sequencing data comes from a nucleic acid sample of the blood of a pregnany woman; (2) using linkage disequilibrium, performing correction on the first genotype information based on the reference data, so as to obtain second genotype information; and (3) determining the fetal nucleic acid concentration based on the difference between the first genotype information and the second genotype information.

IPC Classes  ?

• C12Q 1/68 - Measuring or testing processes involving enzymes, nucleic acids or microorganismsCompositions thereforProcesses of preparing such compositions involving nucleic acids
• C12M 1/34 - Measuring or testing with condition measuring or sensing means, e.g. colony counters

Abstract

Provided in the present invention are a splint nucleic acid molecule for cyclizing a single-stranded nucleic acid molecule and an application therefor. The splint nucleic acid. molecule is composed of a 5′ terminal fragment and a 3′ terminal fragment, the 5′ terminal fragment being adapted to forming a first complementary region with a 5′ terminal of the single-stranded nucleic acid molecule, and the 3′ terminal fragment being suited to forming a second complementary region with a 3′ terminal of the single-stranded nucleic acid molecule, the length of the first complementary region and the second complementary region being different.

IPC Classes  ?

• C12N 15/113 - Non-coding nucleic acids modulating the expression of genes, e.g. antisense oligonucleotides
• C12Q 1/6851 - Quantitative amplification

Goods & Services

DNA screening for scientific research purposes; structural and functional analysis of genomes; biological research; bacteriological research; blood analysis services; chemical research; scientific research and development; medical research services; scientific research for medical purposes in the field of cancerous diseases. DNA screening for medical purposes; medical services; disease diagnosis services; medical screening; medical analysis services for the diagnosis of cancer; provision of medical information; medical counselling; medical assistance services; obstetric services; health counselling.

Abstract

Disclosed are a base mutation detection method and apparatus based on sequencing data, and a storage medium. The method comprises: determining initial frequencies of sequencing data of a plurality of samples to be tested when a study locus is a specific base; calculating, on the basis of the initial frequencies, an expected value of each sample to be tested when the study locus is the specific base; using each expected value to update the initial frequencies of the sequencing data of the plurality of samples to be tested when the study locus is the specific base; using the updated initial frequencies to continue to calculate the expected value of each sample to be tested when the study locus is the specific base until the expected value of each sample to be tested when the study locus is the specific base converges; and determining, according to each converged expected value, a base mutation type and a variation confidence degree of each sample to be tested at the study locus.

IPC Classes  ?

• G16B 20/20 - Allele or variant detection, e.g. single nucleotide polymorphism [SNP] detection
• G16B 40/00 - ICT specially adapted for biostatisticsICT specially adapted for bioinformatics-related machine learning or data mining, e.g. knowledge discovery or pattern finding
• G16B 50/00 - ICT programming tools or database systems specially adapted for bioinformatics

Goods & Services

Scientific research; Scientific laboratory services; Medical laboratory services; Biomedical research services; Chemical research; Bacteriological research; Biological research; Genetic testing for scientific research purposes DNA screening for medical purposes; Performing diagnosis of diseases; Medical screening; Medical assistance services; Provision of medical information; Medical analysis services for diagnostic and treatment purposes provided by medical laboratories; Genetic testing for medical purposes; Medical analysis services for the diagnosis of cancer; Telemedicine services; Dietary and nutritional guidance

Goods & Services

(1) Bacteriological research; biomedical research services; blood analysis services; chemical research; computer programming in the medical field; database design and development; DNA screening for scientific research purposes; genetic testing for scientific research purposes; information on the subject of scientific research in the field of biochemistry and biotechnology; laboratory testing of materials; medical research laboratory services; scientific research in the field of genetics and genetic engineering; structural and functional analysis of genomes (2) Biological tissue research services (3) Dietary and nutritional guidance; DNA screening for medical purposes; emergency medical assistance; genetic testing for medical purposes; medical analysis services for diagnostic and treatment purposes provided by medical laboratories; medical analysis services for the diagnosis of cancer; medical diagnostic services; medical nursing services; medical screening; medical testing services relating to the diagnosis and treatment of disease; telemedicine services (4) Providing medical information in the field of genetics

Goods & Services

Scientific research; scientific laboratory services; medical laboratory services; biomedical research; chemical research; bacteriological research; biological research; genetic testing for scientific research purposes; computer programming in the medical field; database design and development; structural and functional analysis of genomes; DNA screening for scientific research purposes; blood analysis services; biotechnological research. DNA screening for medical purposes; performing diagnosis of disease; medical screening; medical assistance services; provision of medical information; medical analysis services for diagnostic and treatment purposes provided by medical laboratories; genetic testing for medical purposes; medical analysis services for the diagnosis of cancer; telemedicine services; dietary and nutritional guidance.

Abstract

Provided in the present invention are a splint nucleic acid molecule used for performing cyclisation processing on single-chain nucleic acid molecules, and an application therefor. The splint nucleic acid molecule is composed of a 5' end fragment and a 3' end fragment, the 5' end fragment being suited to forming a first complementary region with a 5' end of the single-chain nucleic acid molecule, and the 3' end fragment being suited to forming a second complementary region with a 3' end of the single-chain nucleic acid molecule, the length of the first complementary region and the second complementary region being different.

IPC Classes  ?

• C12N 15/11 - DNA or RNA fragmentsModified forms thereof
• C12Q 1/68 - Measuring or testing processes involving enzymes, nucleic acids or microorganismsCompositions thereforProcesses of preparing such compositions involving nucleic acids
• C40B 40/06 - Libraries containing nucleotides or polynucleotides, or derivatives thereof

Goods & Services

Biological preparations for the treatment of cancer and genetic diseases; Diagnostic preparations for medical purposes; Chemical reagents for medical or veterinary purposes; Reagent paper for medical purposes; Reagent paper for veterinary purposes; Chemical preparations for medical purposes, namely, for treating cancer and genetic diseases; Alkaloids for medical purposes; Isotopes for medical purposes; Enzyme preparations for medical purposes; Biological tissue cultures for medical purposes

Goods & Services

Data processing apparatus; Recorded computer programs for biological data mining; Downloadable computer programs for developing bioinformatics database for others; Downloadable computer programs for analyzing genome information; Computer memory devices; DNA chips; Laboratory centrifuges; Diagnostic apparatus for the detection of pathogens for laboratory or research use

Goods & Services

Apparatus for use in medical analysis, namely, nucleic acid sequencers for sequencing and analyzing nucleic acids; Testing apparatus for samples of body fluid, tissue and organ; Diagnostic apparatus for the detection of periodontal disease; Diagnostic apparatus for the detection of cancer; Medical apparatus and instruments for diagnostic use, namely, apparatus for medical diagnostic testing in the fields of cancer or other tissue-based diagnostic testing, cytology and cell-based testing; Medical apparatus and instruments for detecting tumor cancer and genetic diseases; Medical apparatus and instruments for detecting and treating tumor and cancer; Diagnostic reagent kits comprised of probes, buffers, and reagents for medical purposes; Radiological apparatus for medical purposes; Blood testing apparatus; Nucleic acid purification reagent kits for medical purposes; Genome machine for medical purposes

Abstract

Disclosed in the present invention are a bioinformatics analysis method and system for HPV precise typing. The method comprises: receiving sequencing fragments obtained through high-throughput sequencing technology to obtain a reads sequence of each sample; grouping and clustering the reads sequences of all samples, comparing and screening the clustered reads sequences with HPV reference sequences, and determining the matching results of the screened reads sequences; and carrying out HPV typing on the reads sequences of determined HPV types by using an LDA model and finally determining the HPV type of each reads sequence.

IPC Classes  ?

• C12Q 1/70 - Measuring or testing processes involving enzymes, nucleic acids or microorganismsCompositions thereforProcesses of preparing such compositions involving virus or bacteriophage

Abstract

Provided is a method for extracting a large-fragment DNA. The method comprises the three steps: (1) sample grinding and cracking, in which a first solution comprising PVP, sodium pyrosulfite, sodium chloride, Tris, EDTA and SDS as well as ribonuclease A are used; (2), extraction, in which extraction is carried out by using a second solution of 5M sodium acetate and a third solution that comprises PEG8000 and sodium chloride and then using chloroform/isoamyl alcohol; and (3) deposition and cleaning. The method can be used for resolving the problem of extraction of polysaccharide and polyphenol species, and the integrity of an extracted sample is greater than 40kb.

IPC Classes  ?

• C12N 15/10 - Processes for the isolation, preparation or purification of DNA or RNA

Goods & Services

DNA screening for medical purposes; Medical services; Health care; Medical assistance; Health counselling; Performing diagnosis of diseases; Medical screening; Medical analysis services for the diagnosis of cancer; Food nutrition consultation; Rest home services; Beauty salon services; Veterinary assistance

Abstract

The present invention provides an enrichment method for a genomic target region. The method comprises: (1) circularizing a DNA fragment sample; (2) binding the circularized product to a target region-specific primer or target region-specific probe; and (3) performing a rolling circle amplification of the circularized product binding the target region-specific primer or target region-specific probe.

IPC Classes  ?

• C12Q 1/68 - Measuring or testing processes involving enzymes, nucleic acids or microorganismsCompositions thereforProcesses of preparing such compositions involving nucleic acids

Abstract

Provided is a DNA identifier for detecting a mutation in a trace amount. Said identifier has a sequence selected from at least one of the following sequences: (1) HHATHHHTCACCHHATHHH; or (2) HHHTAHHTAHHHTAHH, H representing A, T or C.

IPC Classes  ?

• C07H 21/04 - Compounds containing two or more mononucleotide units having separate phosphate or polyphosphate groups linked by saccharide radicals of nucleoside groups, e.g. nucleic acids with deoxyribosyl as saccharide radical
• C12Q 1/68 - Measuring or testing processes involving enzymes, nucleic acids or microorganismsCompositions thereforProcesses of preparing such compositions involving nucleic acids
• C40B 50/06 - Biochemical methods, e.g. using enzymes or whole viable microorganisms

Goods & Services

Medical clinic services; Pharmacy advice; Medical assistance; Telemedicine services; Food nutrition consultation; Rest home services; Health counselling; Aquaculture services, namely, the cultivation and breeding of plants or animals in a water environment; Medical services in the fields of nucleic acid analysis, prenatal diagnosis and genetics; Health centre services

Abstract

Disclosed are a method and device for determining the proportion of a free nucleotide from a predetermined source in a biological sample. The method comprises: (1) performing nucleic acid sequencing on a biological sample comprising a free nucleotide to obtain a sequencing result consisting of multiple pieces of sequencing data; (2) comparing the sequencing result with a reference sequence to determine the number of pieces of sequencing data falling within a predetermined window in the sequencing result; and (3) determining the proportion of the free nucleotide from a predetermined source in the biological sample on the basis of the number of pieces of sequencing data falling within the predetermined window.

IPC Classes  ?

• C12Q 1/68 - Measuring or testing processes involving enzymes, nucleic acids or microorganismsCompositions thereforProcesses of preparing such compositions involving nucleic acids
• C12M 1/00 - Apparatus for enzymology or microbiology

Abstract

The present application discloses a gene tag for nucleic acid sample identification, a kit, and an application thereof. The gene tag for nucleic acid sample identification of the present application is a nucleic acid with a length greater than 130 bps. The nucleic acid sequence has a poly-A tail at the 3' end, and at least one index sequence is inserted at a random position in the nucleic acid sequence.

IPC Classes  ?

• C12N 15/11 - DNA or RNA fragmentsModified forms thereof
• C12Q 1/68 - Measuring or testing processes involving enzymes, nucleic acids or microorganismsCompositions thereforProcesses of preparing such compositions involving nucleic acids

Abstract

Disclosed are a method and a system for determining genome copy number variation, which relates to the technical field of bioinformatics. The method and the system have clinical feasibility, and can precisely detect a micro-deletion/micro-duplication area of 0.5 M under the situation of using data of about 50 M.

IPC Classes  ?

• C12Q 1/68 - Measuring or testing processes involving enzymes, nucleic acids or microorganismsCompositions thereforProcesses of preparing such compositions involving nucleic acids
• G16B 30/00 - ICT specially adapted for sequence analysis involving nucleotides or amino acids
• G16C 99/00 - Subject matter not provided for in other groups of this subclass
• C12Q 1/6869 - Methods for sequencing
• G16B 30/10 - Sequence alignmentHomology search
• G16B 15/00 - ICT specially adapted for analysing two-dimensional or three-dimensional molecular structures, e.g. structural or functional relations or structure alignment

Abstract

Disclosed is a method for detecting a mutation cluster. The method comprises: acquiring mutation data of a sample to be detected, wherein the mutation data comprises position information of N SNPs on a reference sequence; dividing the reference sequence into multiple overlapped windows, so that each window comprises Num SNPs; discarding windows that do not satisfy (a) and/or (b), and obtaining first candidate mutation clusters, wherein the size D of the (a) window is less than Len, Len is a preset mutation spacing threshold of the Num SNPs, Len is equal to or less than ADL, ADL is 1/Num of an average mutation spacing, i is a number of an SNP on the reference sequence, di is a mutation spacing of SNPi, the mutation spacing of SNPi is a distance from SNPi to SNPi+1 or SNPi-1 on the reference sequence, and the mutation density of the (b) window is remarkably higher that of the whole sample to be detected; and merging overlapped first candidate mutation clusters.

IPC Classes  ?

• C12Q 1/68 - Measuring or testing processes involving enzymes, nucleic acids or microorganismsCompositions thereforProcesses of preparing such compositions involving nucleic acids

Abstract

Disclosed in the present invention is a device for constructing distribution area of different combined genotypes of SNP site, comprising: construction unit of first area and second area for constructing the first area and the second area, wherein the first area is the distribution area of the first combined genotype of SNP site, and the second area is the distribution area of the second combined genotype of SNP site; construction unit of third area and fourth area for constructing the third area and the fourth area from the second area, wherein the third area is the distribution area of the first predetermined ratio AAaa SNP site in the second combined genotype of SNP site, and the fourth area is the distribution area of AAab SNP site in the second combined genotype of SNP site. Also disclosed in the present invention are a method for constructing distribution area of different combined genotypes of SNP site, a method and device for determining the fetal nucleic acid content from a pregnant woman sample.

IPC Classes  ?

• C12M 1/00 - Apparatus for enzymology or microbiology
• C12M 1/34 - Measuring or testing with condition measuring or sensing means, e.g. colony counters
• C12Q 1/68 - Measuring or testing processes involving enzymes, nucleic acids or microorganismsCompositions thereforProcesses of preparing such compositions involving nucleic acids

Abstract

Disclosed are primers used for detecting related gene mutations of non-small-cell lung cancer medications and a detection method and use. The primers of the present application comprise a set of 41 specific primer pairs and a set of one universal primer pair, wherein the specific primer set is made up of specific primers for detecting 41 mutational sites of 12 related genes of non-small-cell lung cancer medications, respectively; and the universal primer set is made up of outer primers commonly used for amplification products of the set of 41 specific primer pairs.

IPC Classes  ?

• C12Q 1/68 - Measuring or testing processes involving enzymes, nucleic acids or microorganismsCompositions thereforProcesses of preparing such compositions involving nucleic acids

Abstract

Disclosed are primers used for detecting related gene mutations of gastrointestinal stromal tumour medications and a detection method and use. The primers comprise a set of 24 specific primer pairs which detect 32 mutational sites of 14 related genes of gastrointestinal stromal tumour medications, respectively; and a set of one universal primer pair which is made up of outer primers commonly used for amplification products of the set of 24 specific primer pairs.

IPC Classes  ?

• C12Q 1/68 - Measuring or testing processes involving enzymes, nucleic acids or microorganismsCompositions thereforProcesses of preparing such compositions involving nucleic acids

Abstract

Disclosed are a primer for detecting colorectal cancer drug-related gene mutation, a detection method and an application. The primer of the present application comprises 25 specific primer sets and 1 general primer set. The specific primer sets comprise specific primers respectively for detecting 27 mutation sites of 15 colorectal cancer drug-related genes, and the general primer set comprises outer primers commonly used for amplified products of the 25 specific primer sets. The 25 specific primer sets are sequentially shown as Seq ID NO. 1 to Seq ID NO. 50, wherein Seq ID NO. 1 and Seq ID NO. 2 form one set, Seq ID NO. 3 and Seq ID NO. 4 form one set, and so on; and the sequences of the general primer set are shown as Seq ID NO. 51 and Seq ID NO. 52.

IPC Classes  ?

• C12Q 1/68 - Measuring or testing processes involving enzymes, nucleic acids or microorganismsCompositions thereforProcesses of preparing such compositions involving nucleic acids
• C12N 15/11 - DNA or RNA fragmentsModified forms thereof

Abstract

Disclosed are a qRT-PCR primer, probe, chip, kit, application and method for detecting a non-small cell lung cancer (NSCLC). The primer and probe comprise a sequence selected from SEQ ID NOs: 1-66, and can detect 22 subtypes of fusion genes, EML4-ALK, NMP1-ALK, CD74-ROS, SLC34A2-ROS, CDCC6-RET and KIF5B-RET.

IPC Classes  ?

• C12Q 1/68 - Measuring or testing processes involving enzymes, nucleic acids or microorganismsCompositions thereforProcesses of preparing such compositions involving nucleic acids

Abstract

2 of the predetermined nucleic acid fragment in the second nucleic acid, determining the nucleic acid composition in the total nucleic acid mixture.

IPC Classes  ?

• C12Q 1/6853 - Nucleic acid amplification reactions using modified primers or templates
• C12Q 1/6881 - Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for tissue or cell typing, e.g. human leukocyte antigen [HLA] probes
• C12Q 1/6886 - Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material for cancer
• C12Q 1/6827 - Hybridisation assays for detection of mutation or polymorphism
• C12Q 1/6876 - Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
• C12Q 1/6851 - Quantitative amplification

Abstract

The present invention provides a detecting method and system for non-invasive prenatal testing. The method comprises the following steps: 1) selecting STRs and designing primers; 2) amplifying nuclear acids obtained from the alleged father and the pregnant mother by said primers to obtain amplified sequence; 3) sequencing said amplified sequence to obtain sequencing sequences; 4) obtaining corresponding base sequences for each STR with regard to said above sequences, and making STR typing on the basis of said base sequences; 5) screening obtained STR genotypes; and 6) calculating related parameters of paternity test.

IPC Classes  ?

• C12Q 1/68 - Measuring or testing processes involving enzymes, nucleic acids or microorganismsCompositions thereforProcesses of preparing such compositions involving nucleic acids

Abstract

A PF rapid database construction method and an application therefor. The PF rapid database construction method comprises the following steps: a first step of fragmenting genomic DNA so as to obtain DNA fragments; a second step of performing end repairing on the DNA fragments; a third step of adding P1 and BarcodeX adapters at the ends of the DNA fragments having undergone end repairing; a fourth step of performing library mixing according to the required yield of each library; a fifth step of performing nick translation on the mixed libraries; a sixth step of performing quality testing on the product having undergone nick translation.

IPC Classes  ?

• C40B 50/06 - Biochemical methods, e.g. using enzymes or whole viable microorganisms
• C40B 40/06 - Libraries containing nucleotides or polynucleotides, or derivatives thereof

Abstract

A CNV analysis method for chromosomes of a single-cell and a detection device, the CNV analysis method for chromosomes of a single-cell comprising the following steps: a first step of extracting effective data; a second step of performing sequence alignment on the extracted effective data then determining whether a Y chromosome is present; a third step of dividing the sequences having undergone sequence alignment into windows then performing GC-content correction; a fourth step of performing breakpoint screening on the data having undergone GC-content correction; a fifth step of filtering the data having undergone breakpoint screening for data satisfying a determining condition and performing visualisation.

IPC Classes  ?

• C12Q 1/68 - Measuring or testing processes involving enzymes, nucleic acids or microorganismsCompositions thereforProcesses of preparing such compositions involving nucleic acids

Abstract

A method and a device for detecting chromosomal structural abnormalities are provided. The method includes acquiring a whole genome sequencing result of a target individual, that is, multiple pairs of Reads located at two ends of chromosome fragments are determined; aligning the sequencing result with a reference sequence to obtain an abnormal match set, which includes Read pairs that have two Read sequences matched respectively to different chromosomes of the reference sequence; clustering the Read sequences in the abnormal match set based on the positions matched thereto; and filtering the resultant clusters by using, for example, preset requirements associated with compactness and others, and obtaining the filtered result, clusters, for determining the occurrence of translocation-type chromosomal structural abnormity.

IPC Classes  ?

• G16B 30/00 - ICT specially adapted for sequence analysis involving nucleotides or amino acids
• G16B 40/00 - ICT specially adapted for biostatisticsICT specially adapted for bioinformatics-related machine learning or data mining, e.g. knowledge discovery or pattern finding
• C12Q 1/6869 - Methods for sequencing

Abstract

A method of preparing a sequencing library based on a blood sample, a method of sequencing a nucleic acid, a method for determining a fetal genetic abnormality of a chromosomal aneuploidy in a sample obtained from a pregnant female subject, an apparatus to prepare a sequencing library based on a blood sample, an assembly to sequence a nucleic acid, and a system for determining a fetal genetic abnormality of a chromosomal aneuploidy in a sample obtained from a pregnant female subject are provided.

IPC Classes  ?

• C40B 50/06 - Biochemical methods, e.g. using enzymes or whole viable microorganisms
• C12Q 1/68 - Measuring or testing processes involving enzymes, nucleic acids or microorganismsCompositions thereforProcesses of preparing such compositions involving nucleic acids
• C12N 15/10 - Processes for the isolation, preparation or purification of DNA or RNA
• C40B 40/08 - Libraries containing RNA or DNA which encodes proteins, e.g. gene libraries

Abstract

CA 02956105 2017-01-24CA ApplicationBlakes Ref: 14099/00001ABSTRACTProvided in the present disclosure are a method and a device for determining a fraction of cell free nucleic acids in a biological sample and use thereof, wherein the method comprises: (1) sequencing nucleic acids of a biological sample having free nucleic acids, in order to obtain sequencing results for a plurality of sequencing data; (2) based on the sequencing results, determining the number of nucleic acid molecules with a length falling within a preset range in the sample; and (3) based on the number of nucleic acid molecules with a length falling within the preset range, determining the ratio of free nucleic acids in the biological sample.23067111.2

IPC Classes  ?

• C12M 1/34 - Measuring or testing with condition measuring or sensing means, e.g. colony counters
• C12Q 1/68 - Measuring or testing processes involving enzymes, nucleic acids or microorganismsCompositions thereforProcesses of preparing such compositions involving nucleic acids
• C12Q 1/6809 - Methods for determination or identification of nucleic acids involving differential detection
• C12Q 1/6869 - Methods for sequencing

Abstract

Provided in the present invention are a method and device for determining a ratio of free nucleic acid in a biological sample and use thereof, wherein the method comprises: (1) sequencing nucleic acids of a biological sample having free nucleic acids, in order to obtain sequencing results for a plurality of sequencing data; (2) based on the sequencing results, determining the number of nucleic acid molecules with a length falling within a preset range in the sample; and (3) based on the number of nucleic acid molecules with a length falling within the preset range, determining the ratio of free nucleic acids in the biological sample.

IPC Classes  ?

• C12Q 1/68 - Measuring or testing processes involving enzymes, nucleic acids or microorganismsCompositions thereforProcesses of preparing such compositions involving nucleic acids

Abstract

Disclosed in the present invention is a method for pre-processing micro amounts of paraffin-embedded clinical biopsy tissue. The method comprises the following steps: 1) successively slicing a block of paraffin-embedded clinical biopsy tissue; 2) selecting a slice from among the slices of the same block of clinical biopsy tissue, and HE staining said slice to obtain a reference slice; 3) selecting a non-HE stained slice from among the slices of said same block of clinical biopsy tissue, and dewaxing so as to use as a slice from which tissue may be separated; 4) on the basis of the HE stain results of the reference slice, cutting tumor tissue off of the slice from which tissue may be separated.

IPC Classes  ?

• C12Q 1/68 - Measuring or testing processes involving enzymes, nucleic acids or microorganismsCompositions thereforProcesses of preparing such compositions involving nucleic acids
• G01N 1/28 - Preparing specimens for investigation

Abstract

Provided in the present invention is a method for determining the sequence of a probe based on a reference sequence and a method for detecting genomic structural variation. The method for determining the sequence of a probe based on a reference sequence comprises: constructing a first candidate probe set based on a plurality of discrete high-frequency SNP sites, wherein the first candidate probe set is composed of a plurality of candidate probes and each one of a plurality of candidate probes has at least one discrete high-frequency SNP. A plurality of candidate probes of the first candidate probe set is compared with the reference sequence in order to obtain a comparison result. On the basis of the comparison result, the first candidate probe set is firstly screened, so as to obtain a second candidate probe set. The reference sequence is divided into a plurality of windows with a predetermined length, and a plurality of candidate probes of the second candidate probe set are respectively distributed to each of the matching windows, so as to determine its own positional information of a plurality of candidate probes. Based on the positional information and allele frequency of the discrete high-frequency SNP, the second candidate probe set is secondly screened in order to determine the probe sequence.

IPC Classes  ?

• C12Q 1/68 - Measuring or testing processes involving enzymes, nucleic acids or microorganismsCompositions thereforProcesses of preparing such compositions involving nucleic acids