According to one aspect, systems and processes for updating an alert rule are provided. In an exemplary process, one or more alert rules are displayed. A first user selection of a displayed alert rule is received, and in response, an alert modification interface corresponding to the selected alert rule is displayed. The alert modification interface may include one or more conditions for triggering a communication of an alert to an entity. At least one additional user selection indicative of a change to the one or more displayed conditions is received, where the conditions are for triggering the communication of an alert to an entity. In response to receiving the at least one additional user selection, the selected alert rule is updated.
G06F 3/048 - Techniques d’interaction fondées sur les interfaces utilisateur graphiques [GUI]
H04L 29/02 - Commande de la communication; Traitement de la communication
H04L 29/10 - Commande de la communication; Traitement de la communication caractérisés par un interface, p.ex. par l'interface entre le niveau de la liaison et le niveau physique
Methods for preparing concatenated nucleic acid molecules are provided. The methods herein include adaptors with complementary sequences for preparation of concatenated nucleic acid molecules, and methods of sequencing such nucleic acids.
Described herein is a modular robotic system for processing a biological sample, and methods of using a modular robotic system for processing a biological sample. The modular robotic system includes a bidirectional plate transportation track to transport plates within the modular robotic system, as well as robotic arms that can transport the plate from a node on the bidirectional plate transportation tack to a sample processing module. Through this system, the sample and/or consumable plates can be transported throughout the processing system. Additionally, the modular robotic system is configured to be expandable, so that the system can be easily adapted to scale up biological sample processing laboratories.
B65G 47/90 - Dispositifs pour saisir et déposer les articles ou les matériaux
B65G 49/02 - Systèmes transporteurs caractérisés par leur utilisation à des fins particulières, non prévus ailleurs pour transporter des pièces à usiner dans des bains de liquide
G06F 19/10 - Bio-informatique, c. à d. procédés ou systèmes pour le traitement de données génétiques ou se rapportant aux protéines en biologie moléculaire informatique (procédés in silico de criblage de bibliothèques chimiques virtuelles C40B 30/02;procédés mathématiques ou in silicio de création de bibliothèques chimiques virtuelles C40B 50/02)
4.
SYSTEMS AND METHODS FOR PERFORMING AND OPTIMIZING PERFORMANCE OF DNA-BASED NONINVASIVE PRENATAL SCREENS
A computer-implemented method for optimizing performance of a DNA-based noninvasive prenatal screen includes generating a plurality of synthetic sequencing datasets by, for each of the plurality of synthetic sequencing datasets, (i) generating at least one of a plurality of synthetic copy number variants comprising a synthetic number of copies of at least a portion of a region of interest represented by a synthetic number of sequencing reads from one or more segments within the region of interest, and (ii) modifying a real sequencing dataset, which includes genetic sequencing data from a real test sample comprising maternal and fetal cfDNA, by replacing a number of real sequencing reads from the one or more segments within the region of interest in the real test sample with the synthetic number of sequencing reads. Various other methods and systems are also disclosed.
C12Q 1/68 - Procédés de mesure ou de test faisant intervenir des enzymes, des acides nucléiques ou des micro-organismesCompositions à cet effetProcédés pour préparer ces compositions faisant intervenir des acides nucléiques
5.
MULTI-DIMENSIONAL SAMPLE-DEPENDENT AND BATCH-DEPENDENT QUALITY CONTROL
Described herein are methods for controlling quality of a test sample from a test sample batch. The sample can be a biological sample, which can be tested using a high-throughput assay system. By controlling the quality of the analyzed samples, more precise assay results can be determined and imprecise samples can be failed. In some embodiments, the method includes testing a test sample batch including a test sample to determine multiple parameters for the samples within the batch; evaluating a test sample batch quality and failing the test sample batch if a determined test sample batch multi-parameter point is outside of a batch quality control limit; and evaluating a test sample quality and failing the test sample if a determined test sample multi-parameter point is outside of a sample quality control limit.
Provided herein are methods and compositions for reducing probe count variability of a biological sample. After obtaining a biological sample, such as a saliva sample, the sample is pretreated with a lysis buffer that includes a detergent to form an extraction solution. Nucleic acids are isolated from the extraction solution and fragmented into polynucleotide fragments, which are then mixed with homologous capture probes, which, for example, are bound to a flow cell of a direct targeted sequencing system. The capture probes bind to targeted sequences of the polynucleotide fragments, thereby capturing the targeted polynucleotide fragments. Based on binding of polynucleotides fragments to the homologous capture probes, a probe count is determined for the homologous probes. By mixing the lysis buffer with the biological sample to form the extraction solution, variability of the determined probe count is substantially reduced.
C12Q 1/68 - Procédés de mesure ou de test faisant intervenir des enzymes, des acides nucléiques ou des micro-organismesCompositions à cet effetProcédés pour préparer ces compositions faisant intervenir des acides nucléiques
G06F 19/18 - pour la génomique ou la protéomique fonctionnelle, p.ex. associations génotype-phénotype, déséquilibre de liaison, mutagénèse, génotypage ou annotation génomique, interactions protéines-protéines ou interactions protéines-acides nucléiques
G06F 19/22 - pour la comparaison de séquences impliquant des nucléotides ou des acides aminés, p.ex. recherche d'homologie, identification de motifs ou de polymorphismes de nucléotides simples [SNP] ou alignement de séquences
7.
METHODS AND COMPOSITIONS FOR ENRICHMENT OF TARGET POLYNUCLEOTIDES
High-fidelity, high-throughput nucleic acid sequencing enables healthcare practitioners and patients to gain insight into genetic variants and potential health risks. However, previous methods of nucleic acid sequencing often introduces sequencing errors (for example, mutations that arise during the preparation of a nucleic acid library, during amplification, or sequencing). Provided herein are methods and compositions for sequencing nucleic acids. Further provided are methods of identifying an error in a nucleic acid sequence.
G01N 33/53 - Tests immunologiquesTests faisant intervenir la formation de liaisons biospécifiquesMatériaux à cet effet
C12Q 1/68 - Procédés de mesure ou de test faisant intervenir des enzymes, des acides nucléiques ou des micro-organismesCompositions à cet effetProcédés pour préparer ces compositions faisant intervenir des acides nucléiques
Disclosed are high concentration reagents for use in preparing DNA samples in low volume reactions. Such reagents include, for example, DNA end repair buffers for use in low volume DNA blunting and phosphorylating reactions, DNA adenylating buffers for use in a low volume DNA adenylating reaction, and DNA ligation buffers for use in low volume DNA adaptor ligation reactions with adaptors. Also disclosed are customized reagent plates and kits containing one or more of these low volume buffers for use in low volume DNA blunting, phosphorylating, adenylating, and ligation reactions. Methods of using the high concentration reagents (low volume buffers) and the customized reagent plates for preparing DNA sequencing libraries in low volume reactions are also disclosed.
Provided herein are methods comprising the use of duplex sequencing adapters to sequence a duplex nucleic acid molecule and to decrease or eliminate strand bias during amplification and sequencing of a duplex nucleic acid molecule. Primers specific to the duplex sequencing adapters are used to amplify the first strand and the second strand of the duplex nucleic acid molecule to create a sample library wherein the first strand and the second strand are each represented as both plus strands and minus strands. Enrichment methods are described wherein the plus strands and minus strands are enriched using capture probes that target substantially the same region of the plus strands and minus strands, thereby producing enriched libraries resulting from plus strand probe captures and minus strand probe captures. Further provided are nucleic acid sequencing libraries constructed using the methods described herein.
C12N 15/10 - Procédés pour l'isolement, la préparation ou la purification d'ADN ou d'ARN
C12Q 1/68 - Procédés de mesure ou de test faisant intervenir des enzymes, des acides nucléiques ou des micro-organismesCompositions à cet effetProcédés pour préparer ces compositions faisant intervenir des acides nucléiques
C40B 20/06 - Procédés spécialement adaptés à l'identification des éléments d'une bibliothèque utilisant des techniques de déconvolution itératives
C40B 40/06 - Bibliothèques comprenant des nucléotides ou des polynucléotides ou leurs dérivés
C40B 50/06 - Procédés biochimiques, p. ex. utilisant des enzymes ou des micro-organismes viables entiers
G06F 19/10 - Bio-informatique, c. à d. procédés ou systèmes pour le traitement de données génétiques ou se rapportant aux protéines en biologie moléculaire informatique (procédés in silico de criblage de bibliothèques chimiques virtuelles C40B 30/02;procédés mathématiques ou in silicio de création de bibliothèques chimiques virtuelles C40B 50/02)
G06F 19/22 - pour la comparaison de séquences impliquant des nucléotides ou des acides aminés, p.ex. recherche d'homologie, identification de motifs ou de polymorphismes de nucléotides simples [SNP] ou alignement de séquences
10.
HIGH THROUGHPUT AUTOMATIC DIAGNOSTIC SYSTEM FOR REMOVING MICROPLATE LIDS
Automated diagnostic laboratory and laboratory management system for high throughout and methods of using the same, including subsystems and components for use with the same and devices for removing lids from microplates and methods of using the same.
A method of quantitatively determining a copy number of a gene of interest in a genomic DNA sample may include (i) determining a cycle threshold value for a target gene having an unknown copy number and a cycle threshold value for a reference gene in each of a plurality of wells of an assay plate, (ii) calculating a delta cycle threshold value for each of the plurality of wells, (iii) fitting a Gaussian mixture model to the delta cycle threshold values, (iv) generating a modified Gaussian mixture model by performing an iterative expectation-maximization routine on the Gaussian mixture model, and (v) determining the target gene copy number in each of the plurality of genomic DNA samples based on the modified Gaussian mixture model. Various other methods and systems are also disclosed.
C12Q 1/68 - Procédés de mesure ou de test faisant intervenir des enzymes, des acides nucléiques ou des micro-organismesCompositions à cet effetProcédés pour préparer ces compositions faisant intervenir des acides nucléiques
G06F 19/18 - pour la génomique ou la protéomique fonctionnelle, p.ex. associations génotype-phénotype, déséquilibre de liaison, mutagénèse, génotypage ou annotation génomique, interactions protéines-protéines ou interactions protéines-acides nucléiques
G06F 19/20 - pour l'hybridation ou l'expression génique, p.ex. microréseaux, séquençage par hybridation, normalisation, profilage, modèles de correction de bruit, estimation du ratio d'expression, conception ou optimisation de sonde
12.
HIGH CONCENTRATION REAGENTS FOR SAMPLE PREPARATION IN SMALL WELL FORMAT
Disclosed are high concentration reagents for use in preparing DNA samples in low volume reactions. Such reagents include, for example, DNA end repair buffers for use in low volume DNA blunting and phosphorylating reactions, DNA adenylating buffers for use in a low volume DNA adenylating reaction, and DNA ligation buffers for use in low volume DNA adaptor ligation reactions with adaptors. Also disclosed are customized reagent plates and kits containing one or more of these low volume buffers for use in low volume DNA blunting, phosphorylating, adenylating, and ligation reactions. Methods of using the high concentration reagents (low volume buffers) and the customized reagent plates for preparing DNA sequencing libraries in low volume reactions are also disclosed.
Disclosed are high concentration reagents for use in preparing DNA samples in low volume reactions. Such reagents include, for example, DNA end repair buffers for use in low volume DNA blunting and phosphorylating reactions, DNA adenylating buffers for use in a low volume DNA adenylating reaction, and DNA ligation buffers for use in low volume DNA adaptor ligation reactions with adaptors. Also disclosed are customized reagent plates and kits containing one or more of these low volume buffers for use in low volume DNA blunting, phosphorylating, adenylating, and ligation reactions. Methods of using the high concentration reagents (low volume buffers) and the customized reagent plates for preparing DNA sequencing libraries in low volume reactions are also disclosed.
C12N 15/10 - Procédés pour l'isolement, la préparation ou la purification d'ADN ou d'ARN
C12Q 1/68 - Procédés de mesure ou de test faisant intervenir des enzymes, des acides nucléiques ou des micro-organismesCompositions à cet effetProcédés pour préparer ces compositions faisant intervenir des acides nucléiques
Reagent delivery systems, which can include a reagent trough and a pump system, are useful for delivering liquids to a laboratory workbench. Processing samples on the laboratory workbench can result in a large amount of liquid waste. Described herein are reagent troughs, pump systems, reagent delivery systems, waste management systems, and methods of using the same.
G01F 23/22 - Indication ou mesure du niveau des liquides ou des matériaux solides fluents, p. ex. indication en fonction du volume ou indication au moyen d'un signal d'alarme en mesurant des variables physiques autres que les dimensions linéaires, la pression ou le poids, selon le niveau à mesurer, p. ex. par la différence de transfert de chaleur de vapeur ou d'eau
F04B 49/02 - Commande d'arrêt, de démarrage, de décharge ou de ralenti
F04B 49/03 - Commande d'arrêt, de démarrage, de décharge ou de ralenti par clapets
F04B 49/22 - Commande des "machines", pompes ou installations de pompage ou mesures de sécurité les concernant non prévues dans les groupes ou présentant un intérêt autre que celui visé par ces groupes par clapets
Capture probe libraries can be used to enrich a region of interest in a sequencing library for high-depth sequencing. The capture probes within the capture probe libraries often do not function in a predictable or uniform manner. Described herein are balanced capture probe libraries and methods of balancing capture probe libraries. A sequencing library can be enriched using balanced capture probe libraries, and the enriched sequencing library can be sequenced to obtain a sequencing depth closer to a desired sequencing depth.
C12Q 1/68 - Procédés de mesure ou de test faisant intervenir des enzymes, des acides nucléiques ou des micro-organismesCompositions à cet effetProcédés pour préparer ces compositions faisant intervenir des acides nucléiques
C40B 30/04 - Procédés de criblage des bibliothèques en mesurant l'aptitude spécifique à se lier à une molécule cible, p. ex. liaison anticorps-antigène, liaison récepteur-ligand
C40B 40/06 - Bibliothèques comprenant des nucléotides ou des polynucléotides ou leurs dérivés
16.
VARIANT CALL PROCESSING SYSTEM AND METHOD FOR REVIEW OF CALLED VARIANTS AND QUALITY CONTROL METRICS
A system for variant call processing review is disclosed. The system can render a call review interface on a display, the call review interface including a plurality of rows, wherein each row represents a call variant read. The system can receive a user input associated with a user-provided command for interacting with a displayed call variant read. The system can store information associated with the user-provided command, the stored information including at least one of a call identification, a sample identification, a displayed call variant read, and a call override value. The system can render a confirmation interface on the display, wherein rendering the confirmation interface includes displaying the stored information.
A system for managing information in a laboratory is disclosed. The system can receive sample information, the sample information including at least one sample identifier and sample order information. The system can send movement information to one or more robotics units based on at least the sample identifier. The system can perform, on at least one identified sample, one or more analytical functions to generate results data. The system can organize the results data based on the sample order information.
Described herein are methods of assessing the performance of a genetic variant screen. A summary statistic can be determined to assess the performance of the genetic variant screen. In some embodiments, the summary statistic is determined using synthetic copy number variants. In some embodiments, the summary statistic is determined using a reference sequence having a synthetic variant.
G06F 19/22 - pour la comparaison de séquences impliquant des nucléotides ou des acides aminés, p.ex. recherche d'homologie, identification de motifs ou de polymorphismes de nucléotides simples [SNP] ou alignement de séquences
G06F 17/30 - Recherche documentaire; Structures de bases de données à cet effet
G06F 19/28 - pour la programmation d'outils ou de systèmes de bases de données, p.ex. ontologies, intégration de données hétérogènes, entreposage de données ou architectures informatiques
19.
CONTACTLESS CONCENTRATION AND MIXING OF MAGNETIC MATERIAL IN LIQUID
Methods are provided for concentrating magnetic material, such as magnetic affinity beads, in liquid samples in sample containers such as wells of multiwell sample processing plates or sample tubes. Methods are also provided for dispersing magnetic material in liquid samples to effect mixing of the liquid. The disclosed methods include movement of magnets, such as magnetic rods or pins, to concentrate or disperse magnetic material, such as movement of magnets in interwell spaces of a multiwell plates or in spaces between sample tubes in a tube rack.
B03C 1/01 - Prétraitement spécialement adapté à la séparation magnétique par addition d'agents magnétiques
B03C 1/24 - Séparation magnétique agissant directement sur la substance à séparer le matériau étant déplacé sous l'effet de champs oscillantsSéparation magnétique agissant directement sur la substance à séparer le matériau étant déplacé sous l'effet de champs mobiles, p. ex. générés par des bobines magnétiques stationnairesSéparateurs à champ de Foucault, p. ex. à rampe glissante le matériau étant déplacé sous l'effet de champs mobiles
High-fidelity, high-throughput nucleic acid sequencing enables healthcare practitioners and patients to gain insight into genetic variants and potential health risks. However, previous methods of nucleic acid sequencing often introduces sequencing errors (for example, mutations that arise during the preparation of a nucleic acid library, during amplification, or sequencing). Provided herein are sequencing adapters comprising a nondegenerate or variable length molecular barcode and compositions comprising a plurality of sequencing adapters, which can be useful for sequencing nucleic acids. Further provided are methods of using the sequencing adapters, including methods of sequencing nucleic acids, methods of identifying an error in a nucleic acid sequence, and methods of determining the number of nucleic acid molecules in a library.
G06F 19/18 - pour la génomique ou la protéomique fonctionnelle, p.ex. associations génotype-phénotype, déséquilibre de liaison, mutagénèse, génotypage ou annotation génomique, interactions protéines-protéines ou interactions protéines-acides nucléiques
G06F 19/22 - pour la comparaison de séquences impliquant des nucléotides ou des acides aminés, p.ex. recherche d'homologie, identification de motifs ou de polymorphismes de nucléotides simples [SNP] ou alignement de séquences
G06N 3/12 - Agencements informatiques fondés sur des modèles biologiques utilisant des modèles génétiques
C12Q 1/68 - Procédés de mesure ou de test faisant intervenir des enzymes, des acides nucléiques ou des micro-organismesCompositions à cet effetProcédés pour préparer ces compositions faisant intervenir des acides nucléiques
C40B 20/04 - Identification des éléments d'une bibliothèque au moyen d'une étiquette, d'un marqueur ou d'un autre identificateur lisible ou détectable, p. ex. procédés de décodage
C40B 40/06 - Bibliothèques comprenant des nucléotides ou des polynucléotides ou leurs dérivés
C40B 50/06 - Procédés biochimiques, p. ex. utilisant des enzymes ou des micro-organismes viables entiers
The present disclosure relates to methods for detecting unique genetic signatures derived from markers such as, for example, mutations, somatic or germ-line, in nucleic acids obtained from biological samples. The sensitivity of the methods provides for detection of mutations associated with a disease, e.g., cancer mutations, or with inherited disease, e.g., an autosomal recessive disease, in a noninvasive manner at ultra-low proportions of sequences carrying mutations to sequences carrying normal, e.g., non-cancer sequences, or a reference sequence, e.g., a human reference genome.
C12P 19/34 - Polynucléotides, p. ex. acides nucléiques, oligoribonucléotides
C12Q 1/68 - Procédés de mesure ou de test faisant intervenir des enzymes, des acides nucléiques ou des micro-organismesCompositions à cet effetProcédés pour préparer ces compositions faisant intervenir des acides nucléiques
C40B 30/04 - Procédés de criblage des bibliothèques en mesurant l'aptitude spécifique à se lier à une molécule cible, p. ex. liaison anticorps-antigène, liaison récepteur-ligand
05 - Produits pharmaceutiques, vétérinaires et hygièniques
10 - Appareils et instruments médicaux
42 - Services scientifiques, technologiques et industriels, recherche et conception
44 - Services médicaux, services vétérinaires, soins d'hygiène et de beauté; services d'agriculture, d'horticulture et de sylviculture.
Produits et services
Medical diagnostic reagents and assays for testing of body
fluids; prenatal test kits for determining fetal chromosomal
abnormalities; diagnostic reagents, preparations and test
kits consisting primarily of reagents for medical purposes;
chemical reagents, preparations and test kits for fetal
nucleic acid analysis for medical use; diagnostic kits
consisting primarily of reagents for nucleic acid analysis
and for detecting genetic conditions, disorders and diseases
for medical use. Blood, urine and saliva collection kits consisting of test
tubes used for health and genetic analysis and diagnostics
and a self-mailer specifically adapted for use the
aforementioned goods. Providing temporary use of non-downloadable computer
software for customizing, selecting and ordering health and
genetic analysis and diagnostic kits and assays and for
accessing, viewing and storing health and genetic
information via electronic, optical and wireless
communication networks. Genetic and health information analysis and diagnostics for
medical purposes; genetic counseling.
Blood, urine and saliva collection kits consisting of test
tubes used for health and genetic analysis and diagnostics
and a self-mailer specifically adapted for use the
aforementioned goods.
A device and method for sorting sample tubes, having a robotic assembly with a horizontal robotic arm which is configured to pivot around the base. The end of tooling arm is configured to pick up and hold a sample tube when a vacuum is applied and to deposit the sample tube into a designated slot in a tube rack when the vacuum is removed. The device includes a vacuum source to pull a vacuum through the tooling; an air source to expel air through the tooling; a horizontal stage underneath the robotic arm to hold a plurality of tube racks in a position; a vision system configured to record coded information on sample tubes and on the sides of tube racks in the device and to convey the coded information to a control system; and tube racks to store the sample tubes.
B07C 5/00 - Tri selon une caractéristique ou une particularité des objets ou du matériau à trier, p. ex. tri commandé par un dispositif qui détecte ou mesure cette caractéristique ou particularitéTri à l'aide de dispositifs manœuvrés à la main, p. ex. d'aiguillages
Integrated modular liquid handling systems are described. The modular liquid handling systems may be customized for use in a variety of applications, including sample processing, assays, diagnostic analyses, and separation of biomolecules. The liquid handling systems may include a variety of integrated modules that provide functions including dispensing of liquids, aspiration of liquids, sensing of liquid parameters, and detection of signals.
G01N 35/10 - Dispositifs pour transférer les échantillons vers, dans ou à partir de l'appareil d'analyse, p. ex. dispositifs d'aspiration, dispositifs d'injection
G01N 1/00 - ÉchantillonnagePréparation des éprouvettes pour la recherche
G01N 1/28 - Préparation d'échantillons pour l'analyse
G01N 35/00 - Analyse automatique non limitée à des procédés ou à des matériaux spécifiés dans un seul des groupes Manipulation de matériaux à cet effet
G01N 35/02 - Analyse automatique non limitée à des procédés ou à des matériaux spécifiés dans un seul des groupes Manipulation de matériaux à cet effet en utilisant une série de récipients à échantillons déplacés par un transporteur passant devant un ou plusieurs postes de traitement ou d'analyse
Recent developments in cost-effective DNA sequencing allows for individualized genomic screening of a subject for genetic sequence variants. Training a pathogenicity prediction model using semi-supervised training methods produces a better model for predicting the pathogenicity of a test genetic sequence variant. Provided herein are methods for predicting the pathogenicity of a test genetic sequence variant by utilizing a training data set comprising labeled benign genetic sequence variants unlabeled genetic sequence variants, the unlabeled genetic sequence variants comprising a mixture of benign genetic sequence variants and pathogenic genetic sequence variants. The genetic sequences are annotated with one or more features and a machine learning model is trained in a semi-supervised process based on the training data. The test genetic sequence is then annotated using the one or more features and the probability that the test genetic sequence variant is pathogenic is predicted based on the trained machine learning model.
G06F 15/18 - dans lesquels un programme est modifié en fonction de l'expérience acquise par le calculateur lui-même au cours d'un cycle complet; Machines capables de s'instruire (systèmes de commande adaptatifs G05B 13/00;intelligence artificielle G06N)
27.
METHOD FOR DETERMINING GENOTYPES IN REGIONS OF HIGH HOMOLOGY
[1] Described herein are methods directed to determining the carrier status or genotype of a subject. Described herein is a method that combines experimental and computational approaches to resolve the structure of genomic loci (i.e., the genotype) whose sequences are highly homologous to other sequences in the genome. In particular, the determination of carrier status and/or copy number of a gene in a subject, wherein the gene has a corresponding highly homologous homolog, e.g., gene or pseudogene, utilizes Next Generation Sequencing. Also described herein is a computer-assisted method for such determinations.
G06F 19/22 - pour la comparaison de séquences impliquant des nucléotides ou des acides aminés, p.ex. recherche d'homologie, identification de motifs ou de polymorphismes de nucléotides simples [SNP] ou alignement de séquences
Processes and systems for reading variants from a genome sample relative to a reference genomic sequence are provided. An exemplary process includes collecting a set reads and generating a k-mer graph from the reads. For example, the k-mer graph can be constructed to represent all possible substrings of the collected reads. The k-mer graph may be reduced to a contiguous graph, and a set of possible haplotypes generated from the contiguous graph. The process may further generate, the error table providing a filter for common sequencer errors. The process may then generate a set of diplotypes based on the set of haplotypes and the generated error table and score the set of diplotypes to identify variants from the reference genome. Scoring the diplotypes may include determining a posterior probability for each of the diplotypes, with the highest scoring diplotype(s) reported as the result.
G01N 33/48 - Matériau biologique, p. ex. sang, urineHémocytomètres
C40B 20/00 - Procédés spécialement adaptés à l'identification des éléments d'une bibliothèque
G06F 19/18 - pour la génomique ou la protéomique fonctionnelle, p.ex. associations génotype-phénotype, déséquilibre de liaison, mutagénèse, génotypage ou annotation génomique, interactions protéines-protéines ou interactions protéines-acides nucléiques
29.
HIGH-THROUGHPUT SAMPLE PROCESSING SYSTEMS AND METHODS OF USE
Disclosed herein are high-throughput sample processing systems and waste management systems, and methods of using the same. I some embodiments, a high throughput sample processing system comprises a sample dispensing device, a plurality of contactless liquid level sensors, a plurality of aspirators, a plurality of contactless treatment stations, a waste management system, and a control system.
C12N 15/10 - Procédés pour l'isolement, la préparation ou la purification d'ADN ou d'ARN
C12Q 1/68 - Procédés de mesure ou de test faisant intervenir des enzymes, des acides nucléiques ou des micro-organismesCompositions à cet effetProcédés pour préparer ces compositions faisant intervenir des acides nucléiques
The present disclosure relates to processes for determining the number of nucleic acid repeats in a DNA fragment comprising a nucleic acid repeat region. One example method may include receiving DNA size and abundance data generated by resolving DNA amplification products. A set of low-pass data may be generated by applying a low-pass filter to the DNA size and abundance data and a set of band-pass data may be generated by applying a band-pass filter to the DNA size and abundance data. A peak of the DNA size and abundance data representative of a number of nucleic acid repeats in the DNA may be identified based on peaks identified from the low-pass data and the band-pass data.
C12Q 1/68 - Procédés de mesure ou de test faisant intervenir des enzymes, des acides nucléiques ou des micro-organismesCompositions à cet effetProcédés pour préparer ces compositions faisant intervenir des acides nucléiques
The present disclosure provides for compositions and methods for the testing and analysis of genetic alterations of a sample comprising maternal and fetal polynucleotides. Generally, the composition and methods of this disclosure provide for the isolation of a mixture of maternal and fetal polynucleotides from a sample, generally from the mother. Polynucleotides are isolated and purified and further tested to determine the presence or absence of genetic alterations, such as copy number variation, or causal variants at one or more loci in the sample.
C12Q 1/68 - Procédés de mesure ou de test faisant intervenir des enzymes, des acides nucléiques ou des micro-organismesCompositions à cet effetProcédés pour préparer ces compositions faisant intervenir des acides nucléiques
C12P 19/34 - Polynucléotides, p. ex. acides nucléiques, oligoribonucléotides
32.
SYSTEM AND METHODS FOR DETECTING GENETIC VARIATION
The invention provides methods, apparatuses, and compositions for high- throughput amplification sequencing of specific target sequences in one or more samples. In some aspects, barcode-tagged polynucleotides are sequenced simultaneously and sample sources are identified on the basis of barcode sequences. In some aspects, sequencing data are used to determine one or more genotypes at one or more loci comprising a causal genetic variant. In some aspects, systems and methods of detecting genetic variation are provided.
Provided herein are methods, systems, and devices for genetic screening. The genetic screening of two or more individuals can be utilized to predict the phenotype of a child from the group of individuals. Also disclosed is prediction of a phenotype of a child from a subset of biological relatives, such as a potential mother and father, before conception. In many instances, the methods, systems and devices herein are utilized to predict the probability of a child developing a rare genetic disease.
C12Q 1/68 - Procédés de mesure ou de test faisant intervenir des enzymes, des acides nucléiques ou des micro-organismesCompositions à cet effetProcédés pour préparer ces compositions faisant intervenir des acides nucléiques
34.
METHODS AND SYSTEMS OF AUTOMATIC ONTOLOGY POPULATION
Methods and systems for creating a knowledge graph that relates terms in a corpus of literature in the form of an assertion and provides a probability of the veracity of the assertion are disclosed herein. Various aspects of the invention are directed to and/or involve knowledge graphs and structured digital abstracts (SDAs) offering a machine readable representation of statements in a corpus of literature. Various methods and systems of the invention can automatically extract, structure, and visualize the statements. Such graphs and abstracts can be useful for a variety of applications including, but not necessarily limited to, semantic-based search tools for search of electronic medical records, specific content verticals (e.g. newswire, finance, history) and general internet searches.
G06Q 50/00 - Technologies de l’information et de la communication [TIC] spécialement adaptées à la mise en œuvre des procédés d’affaires d’un secteur particulier d’activité économique, p. ex. aux services d’utilité publique ou au tourisme
