A computer-implemented method of training a machine learning model is provided. The method comprises obtaining training data specifying, for a wild type variant of a target enzyme and each of a plurality of mutant variants of the target enzyme, each mutant variant having a different set of one or more mutations, an activity measure for the respective variant and a folding measure for the respective variant. The method also comprises, based on the training data, training model parameters of a machine learning model to output, from input data specifying the set of one or more mutations in a given variant of the target enzyme, a predicted activity measure and a predicted folding measure for the given variant.
The present invention relates to methods for modulating the activity of Src kinase comprising mutating Src kinase or providing a binding molecule which binds to Src kinase. The invention also encompasses modified Src kinases, and methods for treating diseases associated with Src kinases.
A method for identifying one or more target sites of a G-protein coupled receptor (GPCR) comprises: obtaining a training data set specifying, for each of a plurality of variants of the GPCR having different combinations of one or more mutations, a surface expression measure and a functional measure for that variant. The functional measure quantifies an extent to which the variant is functional for a given purpose. A model is fitted to the training data set, to obtain a set of model parameters indicative of a correlation between the surface expression measure and the functional measure for the variants of the GPCR. The one or more target sites of the GPCR are identified based on the set of model parameters.
Stichting Het Nederlands Kanker Instituut-Antoni Van Leeuwenhoek Ziekenhuis (Netherlands)
Inventor
Coker, Elizabeth
Emery, Amy
Garnett, Mathew
Jaaks, Patricia
Vis, Daniel
Wessels, Lodewyk
Abstract
The present invention relates to a combination therapy of an inhibitor of the Bel-2 family of proteins selected from navitoclax, venetoclax, A-1331852, AZD5991, or A-1155463, together with an aurora kinase inhibitor for use in a method of treatment of a cancer selected from breast, ovarian, pancreatic, or prostate cancer in a patient.
A61K 31/635 - Compounds containing para-N-benzene- sulfonyl-N-groups, e.g. sulfanilamide, p-nitrobenzenesulfonohydrazide having a heterocyclic ring, e.g. sulfadiazine
A61K 31/437 - Heterocyclic compounds having nitrogen as a ring hetero atom, e.g. guanethidine or rifamycins having six-membered rings with one nitrogen as the only ring hetero atom ortho- or peri-condensed with heterocyclic ring systems the heterocyclic ring system containing a five-membered ring having nitrogen as a ring hetero atom, e.g. indolizine, beta-carboline
A61K 31/4545 - Non-condensed piperidines, e.g. piperocaine containing further heterocyclic ring systems containing a six-membered ring with nitrogen as a ring hetero atom, e.g. pipamperone, anabasine
A61K 31/506 - PyrimidinesHydrogenated pyrimidines, e.g. trimethoprim not condensed and containing further heterocyclic rings
A61K 31/5377 - 1,4-Oxazines, e.g. morpholine not condensed and containing further heterocyclic rings, e.g. timolol
A61K 31/55 - Heterocyclic compounds having nitrogen as a ring hetero atom, e.g. guanethidine or rifamycins having seven-membered rings, e.g. azelastine, pentylenetetrazole
A61K 31/675 - Phosphorus compounds having nitrogen as a ring hetero atom, e.g. pyridoxal phosphate
Stichting Het Nederlands Kanker Instituut-Antoni Van Leeuwenhoek Ziekenhuis (Netherlands)
Inventor
Coker, Elizabeth
Garnett, Mathew
Jaaks, Patricia
Vis, Daniel
Wessels, Lodewyk
Abstract
The present invention relates to a combination therapy a CHEK1 inhibitor and a TOP1 inhibitor for use in a method of treatment of colorectal cancer in a patient.
A61K 31/4535 - Non-condensed piperidines, e.g. piperocaine containing further heterocyclic ring systems containing a heterocyclic ring having sulfur as a ring hetero atom, e.g. pizotifen
A61K 31/4745 - QuinolinesIsoquinolines ortho- or peri-condensed with heterocyclic ring systems condensed with ring systems having nitrogen as a ring hetero atom, e.g. phenanthrolines
A61K 31/497 - Non-condensed pyrazines containing further heterocyclic rings
A61K 31/519 - PyrimidinesHydrogenated pyrimidines, e.g. trimethoprim ortho- or peri-condensed with heterocyclic rings
A61K 31/5377 - 1,4-Oxazines, e.g. morpholine not condensed and containing further heterocyclic rings, e.g. timolol
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 1/689 - Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for detection or identification of organisms for bacteria
7.
AN IGF1R INHIBITOR AND AN AKT INHIBITOR FOR USE IN THE TREATMENT OF CANCER
Stichting Het Nederlands Kanker Instituut-Antoni Van Leeuwenhoek Ziekenhuis (Netherlands)
Inventor
Coker, Elizabeth
Emery, Amy
Garnett, Mathew
Jaaks, Patricia
Lightfoot, Howard
Santos, Jose Dianes
Vis, Daniel
Wessels, Lodewyk
Zerbino, Daniel
Abstract
The present invention relates to a combination therapy of an IGF1R inhibitor together with an Akt inhibitor for the treatment of cancer, such as colorectal cancer, ovarian cancer, and endometrial cancer.
A61K 31/4985 - Pyrazines or piperazines ortho- or peri-condensed with heterocyclic ring systems
A61K 31/4375 - Heterocyclic compounds having nitrogen as a ring hetero atom, e.g. guanethidine or rifamycins having six-membered rings with one nitrogen as the only ring hetero atom ortho- or peri-condensed with heterocyclic ring systems the heterocyclic ring system containing a six-membered ring having nitrogen as a ring hetero atom, e.g. quinolizines, naphthyridines, berberine, vincamine
The invention relates to a method of generating a library of polynucleotide molecules encoding guide RNAs (gRNAs) from target polynucleotide(s). The invention also relates to a library of polynucleotide molecules encoding gRNAs obtainable by the aforementioned method, and a gRNA library generation kit thereof.
STICHTING HET NEDERLANDS KANKER INSTITUUT-ANTONI VAN LEEUWENHOEK ZIEKENHUIS (Netherlands)
Inventor
Adams, David
Harle, Victoria Jayne
Chan, Pui Ying
Peeper, Daniel Simon
Arnoldus, Tim
Abstract
Described herein is a method of treating or preventing cancer in a subject wherein the cancer has functional suppression of CDS1, the method comprising administering a therapeutically effective amount of a CDS2 inhibitor to the subject Also described are methods for predicting whether a subject having cancer, wherein the cancer has functional suppression of CDS1, is likely to respond to treatment with a CDS2 inhibitor; as well as methods of selecting, and identifying and treating a subject likely to respond to treatment with a CDS2 inhibitor. Also disclosed are methods of screening for a compound for use in treatment of cancer.
A61K 31/7088 - Compounds having three or more nucleosides or nucleotides
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
A flow cell adaptor for use in cyclic histology, the flow cell adaptor having a body defining a cavity configured to removably receive a flow cell, wherein the adaptor has a fluid input channel configured to direct one or more reagents to a flow cell, and a fluid output channel configured to receive one or more reagents from a flow cell, wherein the flow cell adaptor comprises a heater configured to heat the one or more reagents in the fluid input channel.
SLOAN-KETTERING INSTITUTE FOR CANCER RESEARCH (USA)
MEMORIAL HOSPITAL FOR THE TREATMENT OF CANCER AND ALLIED DISEASES (USA)
GENOME RESEARCH LIMITED (United Kingdom)
Inventor
Petljak, Mia
Stratton, Michael R.
Maciejowski, John
Abstract
The present disclosure provides methods for treating cancer in a subject (by inhibiting e.g., APOBEC3A, APOBEC3B, or REV1), and methods of diagnosing cancer in a subject. Methods of tracking mutagenesis induced by a gene of interest (e.g., APOBEC3A, APOBEC3B, or REV1) and methods of screening for inhibitors and synthetic lethalities are also described herein. Further provided by the present disclosure are cell lines and antibodies for use in the methods described herein.
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
C07K 16/40 - Immunoglobulins, e.g. monoclonal or polyclonal antibodies against enzymes
The invention relates to methods of analysing and identifying activated T cells and antigen specific TCR motifs using marker gene or protein expression. The invention also relates to isolated activated T cells and antigen-specific TCRs identified using the methods.
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
The invention relates to a method of modifying a genome of a cell or cell population by inserting a nucleic acid sequence comprising a recombinase recognition sequence into multiple repeated sequences in the genome or into sequences within 1-200 nucleotides adjacent thereto by introducing into the cell a targeting entity, comprising a DNA binding domain and the recombinase recognition sequence, and a genome editor and contacting the cell with a recombinase. The invention also relates to a modified cell line produced by such a method, use of such a cell line, a method for producing biotherapeutics using the cell line and a method of screening the modified cell line. The invention also relates to a nucleic acid construct, a complex for prime editing and a kit comprising said complex for prime editing.
The invention relates to therapeutic compositions comprising at least one isolated bacterium and a pharmaceutically acceptable excipient, as well as methods of preparing such therapeutic compositions. The therapeutic compositions find application in the treatment of dysbiosis, in particular dysbiosis of the gastrointestinal tract.
A61K 35/742 - Spore-forming bacteria, e.g. Bacillus coagulans, Bacillus subtilis, clostridium or Lactobacillus sporogenes
A61K 9/00 - Medicinal preparations characterised by special physical form
A61P 1/04 - Drugs for disorders of the alimentary tract or the digestive system for ulcers, gastritis or reflux esophagitis, e.g. antacids, inhibitors of acid secretion, mucosal protectants
A61P 1/06 - Anti-spasmodics, e.g. drugs for colics, esophagic dyskinesia
A61P 1/16 - Drugs for disorders of the alimentary tract or the digestive system for liver or gallbladder disorders, e.g. hepatoprotective agents, cholagogues, litholytics
The invention relates to a method of preparing a nucleic acid library for sequencing comprising selecting for nucleic acid fragments greater than 5 kb in length from a fragmented nucleic acid sample using paramagnetic Solid Phase Reversible Immobilization (SPRI) beads in a binding buffer. The binding buffer comprises specified concentrations of PEG6000, NaCI and TrisHCI at pH8, and the ratio of SPRI beads in binding buffer to sample is between 0.97x and 0.91x. Also provided are methods of sequencing the genome of an organism and generating novel genome assemblies.
The present invention relates to a trypanosomal vaccine comprising an FLA1 binding protein, as well as to pharmaceutical compositions comprising said vaccine and their uses in vaccination to prevent or treat trypanosomal infection in a mammal. Thus, also provided are a method of preventing or treating trypanosomal infection comprising administering said vaccine and a kit of parts comprising a medical instrument or other means for administering.
The present invention concerns methods of diagnosing and/or prognostication of non-alcoholic fatty liver disease (NAFLD) or alcohol-related fatty liver disease (ARLD) in a subject, wherein said methods comprise detecting somatic mutations in DNA, RNA and/or protein that confer a selective advantage on one or more liver cells of the subject. The present invention also provides methods for identifying subjects suffering from NAFLD or ARLD who would benefit from treatment with a therapeutic agent and/or identifying subjects suffering from NAFLD or ARLD who would benefit from increased disease monitoring. The present invention also provides therapeutic agents that find utility in the treatment of NAFLD or ARLD.
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
The present invention provides methods, compositions and kits for use in the culture of organoids in solution. In particular, a method for producing an expanded population of organoids in vitro is provided. The method comprises providing a population of organoid progenitor cells or organoids and culturing the population of organoids in a composition comprising a culture medium and a scaffold matrix, wherein the scaffold matrix is present in the composition at a concentration that is equivalent to a concentration of between 2% (v/v) and 18% (v/v) of a complex protein hydrogel having a protein concentration between 12 and 18 mg/ml, thereby producing an expanded population of organoids. The invention is particularly useful in the context of high-throughput production of organoids such as e.g. for screening.
The present invention relates to a combination therapy of an IGF1R inhibitor together with an Akt inhibitor for the treatment of cancer, such as colorectal cancer, ovarian cancer, and endometrial cancer.
A61K 31/4375 - Heterocyclic compounds having nitrogen as a ring hetero atom, e.g. guanethidine or rifamycins having six-membered rings with one nitrogen as the only ring hetero atom ortho- or peri-condensed with heterocyclic ring systems the heterocyclic ring system containing a six-membered ring having nitrogen as a ring hetero atom, e.g. quinolizines, naphthyridines, berberine, vincamine
A61K 31/4985 - Pyrazines or piperazines ortho- or peri-condensed with heterocyclic ring systems
A61K 45/06 - Mixtures of active ingredients without chemical characterisation, e.g. antiphlogistics and cardiaca
A61K 31/4155 - 1,2-Diazoles not condensed and containing further heterocyclic rings
A61K 31/506 - PyrimidinesHydrogenated pyrimidines, e.g. trimethoprim not condensed and containing further heterocyclic rings
A61K 31/517 - PyrimidinesHydrogenated pyrimidines, e.g. trimethoprim ortho- or peri-condensed with carbocyclic ring systems, e.g. quinazoline, perimidine
A61K 31/5377 - 1,4-Oxazines, e.g. morpholine not condensed and containing further heterocyclic rings, e.g. timolol
A61K 31/675 - Phosphorus compounds having nitrogen as a ring hetero atom, e.g. pyridoxal phosphate
A61K 39/00 - Medicinal preparations containing antigens or antibodies
A61K 39/395 - AntibodiesImmunoglobulinsImmune serum, e.g. antilymphocytic serum
20.
BCL-2 INHIBITORS AND AURORA KINASE INHIBITORS FOR TREATING CANCER
The present invention relates to a combination therapy of an inhibitor of the Bcl-2 family of proteins selected from navitoclax, venetoclax, A-1331852, AZD5991, or A-1155463, together with an aurora kinase inhibitor for use in a method of treatment of a cancer selected from breast, ovarian, pancreatic, or prostate cancer in a patient.
The present invention relates to a combination therapy a CHEK1 inhibitor and a TOP1 inhibitor for use in a method of treatment of colorectal cancer in a patient.
A61K 31/4745 - QuinolinesIsoquinolines ortho- or peri-condensed with heterocyclic ring systems condensed with ring systems having nitrogen as a ring hetero atom, e.g. phenanthrolines
A61K 31/497 - Non-condensed pyrazines containing further heterocyclic rings
Described herein is a method of sequencing a template that comprises a direct repeat, comprising: (a) in the same reaction, hybridizing a primer to a first site that is upstream of the first repeat sequence and hybridizing a primer to a second site that is upstream of the second repeat sequence, wherein the first and second sites are: (i) upstream of the first and second repeat sequences, respectively, and (ii) equidistant from the first and second repeat sequences; and (b) subjecting the hybridization product of (a) to a sequencing-by-synthesis sequencing reaction to produce a sequence read that comprises a combination of the first and second repeat sequences.
The invention relates to a method of generating a library of polynucleotide molecules encoding guide RNAs (gRNAs) from target polynucleotide(s). The invention also relates to a library of polynucleotide molecules encoding gRNAs obtainable by the aforementioned method, and a gRNA library generation kit thereof.
A single step method for gene editing using single-stranded oligo DNA nucleotide (ssODN) homology-directed repair (HDR) and a DNA recombinase is described. Systems, compositions and kits for one step gene editing are also described.5
A flow cell adaptor (25) for use in cyclic histology, the flow cell adaptor (25) having a body (27) defining a cavity (33a, 33b, 33c, 33d) configured to removably receive a flow cell (1), wherein the adaptor (25) has a fluid input channel (41, 43) configured to direct one or more reagents (23) to a flow cell (1), and a fluid output channel (49, 53) configured to receive one or more reagents (23) from a flow cell (1), wherein the flow cell adaptor (25) comprises a heater (89) configured to heat the one or more reagents (23) in the fluid input channel (41, 43).
Methods for identifying somatic variants from sequence data are described, the method accounting for tumour in normal contamination to improve the sensitivity of variant calling when tumour in normal contamination is expected. The methods comprise receiving sequence data from one or more tumour samples of a subject and one or more normal samples, identifying one or more sites where the sequence data from the one or more tumour samples is indicative of a difference between the tumour genome and a reference genome, and determining whether each of the one or more identified sites is a somatic variant using the sequence data from the one or more normal samples and a probabilistic model that models the presence of tumour genetic material in the one or more normal samples.
The invention relates to bacterial compositions for the treatment or prevention thereof of a disease, in particular an infectious disease such as C. difficile infection.
SLOAN-KETTERING INSTITUTE FOR CANCER RESEARCH (USA)
MEMORIAL HOSPITAL FOR THE TREATMENT OF CANCER AND ALLIED DISEASES (USA)
GENOME RESEARCH LIMITED (United Kingdom)
Inventor
Petljak, Mia
Stratton, Michael, R.
Maciejowski, John
Abstract
The present disclosure provides methods for treating cancer in a subject (by inhibiting e.g., APOBEC3A, APOBEC3B, or REV1), and methods of diagnosing cancer in a subject. Methods of tracking mutagenesis induced by a gene of interest (e.g., APOBEC3A, APOBEC3B, or REV1) and methods of screening for inhibitors and synthetic lethalities are also described herein. Further provided by the present disclosure are cell lines and antibodies for use in the methods described herein.
The invention relates to therapeutic compositions comprising at least one isolated bacterium and a pharmaceutically acceptable excipient, as well as methods of preparing such therapeutic compositions. The therapeutic compositions find application in the treatment of dysbiosis, in particular dysbiosis of the gastrointestinal tract.
A01N 63/00 - Biocides, pest repellants or attractants, or plant growth regulators containing microorganisms, viruses, microbial fungi, animals or substances produced by, or obtained from, microorganisms, viruses, microbial fungi or animals, e.g. enzymes or fermentates
A61K 35/742 - Spore-forming bacteria, e.g. Bacillus coagulans, Bacillus subtilis, clostridium or Lactobacillus sporogenes
A61P 1/06 - Anti-spasmodics, e.g. drugs for colics, esophagic dyskinesia
A61P 1/16 - Drugs for disorders of the alimentary tract or the digestive system for liver or gallbladder disorders, e.g. hepatoprotective agents, cholagogues, litholytics
A61P 1/04 - Drugs for disorders of the alimentary tract or the digestive system for ulcers, gastritis or reflux esophagitis, e.g. antacids, inhibitors of acid secretion, mucosal protectants
A61K 9/00 - Medicinal preparations characterised by special physical form
30.
METHODS FOR THE ACCURATE DETECTION OF MUTATIONS IN SINGLE MOLECULES OF DNA
C12Q 1/6806 - Preparing nucleic acids for analysis, e.g. for polymerase chain reaction [PCR] assay
C12Q 1/6848 - Nucleic acid amplification reactions characterised by the means for preventing contamination or increasing the specificity or sensitivity of an amplification reaction
The present invention relates to a trypanosomal vaccine comprising an FLA1 binding protein, as well as to pharmaceutical compositions comprising said vaccine and their uses in vaccination to prevent or treat trypanosomal infection in a mammal. Thus, also provided are a method of preventing or treating trypanosomal infection comprising administering said vaccine and a kit of parts comprising a medical instrument or other means for administering.
A61P 33/02 - Antiprotozoals, e.g. for leishmaniasis, trichomoniasis, toxoplasmosis
C07K 14/44 - Peptides having more than 20 amino acidsGastrinsSomatostatinsMelanotropinsDerivatives thereof from animalsPeptides having more than 20 amino acidsGastrinsSomatostatinsMelanotropinsDerivatives thereof from humans from protozoa
The present invention concerns methods of diagnosing and/or prognostication of non- alcoholic fatty liver disease (NAFLD) or alcohol-related fatty liver disease (ARLD) in a subject, wherein said methods comprise detecting somatic mutations in DNA, RNA and/or protein that confer a selective advantage on one or more liver cells of the subject. The present invention also provides methods for identifying subjects suffering from NAFLD or ARLD who would benefit from treatment with a therapeutic agent and/or identifying subjects suffering from NAFLD or ARLD who would benefit from increased disease monitoring. The present invention also provides therapeutic agents that find utility in the treatment of NAFLD or ARLD.
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
The invention relates to a trypanosomal vaccine, to pharmaceutical compositions comprising said vaccine and to their uses in vaccination to prevent trypanosomal infection in a mammal.
The invention relates to a trypanosomalvaccine, to pharmaceutical compositions comprising said vaccine and to their uses in vaccination to prevent trypanosomal infection in a mammal.
Described herein is a method of sequencing a template that comprises a direct repeat, comprising: (a) in the same reaction, hybridizing a primer to a first site that is upstream of the first repeat sequence and hybridizing a primer to a second site that is upstream of the second repeat sequence, wherein the first and second sites are: (i) upstream of the first and second repeat sequences, respectively, and (ii) equidistant from the first and second repeat sequences; and (b) subjecting the hybridization product of (a) to a sequencing-by-synthesis sequencing reaction to produce a sequence read that comprises a combination of the first and second repeat sequences.
We describe a method and apparatus for analysing a sample. The method may comprise extracting a plurality of sequence reads from within the sample. Genomic analysis is then performed on the plurality of sequence reads by comparing the plurality of sequence reads to reference genomes stored in a reference database, wherein each stored reference genome comprises a set of reference sequences. Before performing the genomic analysis, the method further comprises comparing screening sequences with at least one of the set of reference sequences and the plurality of sequence reads from the sample. When it is determined that a screening sequence matches at least one sequence within either the set of reference sequences or the plurality of sequence reads, the at least one matching sequence is masked.
The present invention provides methods, compositions and kits for use in the culture of organoids in solution. In particular, a method for producing an expanded population of organoids in vitro is provided. The method comprises providing a population of organoid progenitor cells or organoids and culturing the population of organoids in a composition comprising a culture medium and a scaffold matrix, wherein the scaffold matrix is present in the composition at a concentration that is equivalent to a concentration of between 2% (v/v) and 18% (v/v) of a complex protein hydrogel having a protein concentration between 12 and 18 mg/ml, thereby producing an expanded population of organoids. The invention is particularly useful in the context of high-throughput production of organoids such as e.g. for screening.
A pharmaceutical composition comprising a canine, feline or equine antibody having a lambda light chain or a functional fragment or functional derivative thereof, and a pharmaceutically acceptable excipient or carrier, for use or suitable for use in the prevention or treatment of disease ion a dog, cat, or horse, respectively.
The present invention relates to a method of identifying the presence of a target agent in a sample comprising an isothermal nucleic acid sequence-based amplification (NASBA) stage. In particular, the method comprises obtaining a NASBA product and independently detecting the binding of nucleic acid probe sequences comprising molecular labels to the NASBA product. The method may additionally comprise detecting the presence of labelled NTP in the NASBA product, wherein the presence of labelled NTP identifies the presence of the target agent in the sample. Detection may be performed using a lateral flow assay. Also provided is a two-stage method comprising sequencing the NASBA product to identify and/or confirm the presence of the target agent in the sample and/or provide additional data for the target agent (e.g. to identify or monitor mutations).
A culture medium is provided which is capable of establishing expanded potential stem cell (EPSC) lines which resemble naïve or ground state ES cells, but are also able to differentiate into placenta trophoblasts and the embryo proper. Methods are provided using the medium for the in vitro conversion and maintenance of cells, including pluripotent cells into EPSCs.
THE UNITED STATE OF AMERICA, AS REPRESENTED BY THE SECRETARY, DEPARTMENT OF HEALTH AND HUMAN SERVICE (USA)
GENOME RESEARCH LIMITED (United Kingdom)
DANA FARBER CANCER INSTITUTE (USA)
Inventor
Reinhold, William Curtis
Garnett, Mathew
Rajapakse, Vinodh Nalin
Pommier, Yves
Luna, Augustin
Abstract
The disclosure provides a method of treating triple negative breast cancer in a patient, comprising administering a therapeutically effective amount of a compound selected from oxyphenisatin, oxyphenisatin acetate, and bisacodyl, or the pharmaceutically acceptable salts or hydrates of any of the foregoing to the patient. The disclosure also provides methods of using oxyphenisatin or bisacodyl, or a salt or hydrate thereof, as a first active agent in combination with one or more additional active agents to treat triple negative breast cancer. The disclosure further provides methods for determining whether a patient suffering from triple negative breast cancer would be responsive to treatment with oxyphenisatin or bisacodyl.
A61K 31/4402 - Non-condensed pyridinesHydrogenated derivatives thereof only substituted in position 2, e.g. pheniramine, bisacodyl
A61K 31/704 - Compounds having saccharide radicals attached to non-saccharide compounds by glycosidic linkages attached to a carbocyclic compound, e.g. phloridzin attached to a condensed carbocyclic ring system, e.g. sennosides, thiocolchicosides, escin, daunorubicin, digitoxin
A61K 31/475 - QuinolinesIsoquinolines having an indole ring, e.g. yohimbine, reserpine, strychnine, vinblastine
A61K 31/675 - Phosphorus compounds having nitrogen as a ring hetero atom, e.g. pyridoxal phosphate
A61K 31/337 - Heterocyclic compounds having oxygen as the only ring hetero atom, e.g. fungichromin having four-membered rings, e.g. taxol
A61K 31/513 - PyrimidinesHydrogenated pyrimidines, e.g. trimethoprim having oxo groups directly attached to the heterocyclic ring, e.g. cytosine
A61K 31/7068 - Compounds having saccharide radicals and heterocyclic rings having nitrogen as a ring hetero atom, e.g. nucleosides, nucleotides containing six-membered rings with nitrogen as a ring hetero atom containing condensed or non-condensed pyrimidines having oxo groups directly attached to the pyrimidine ring, e.g. cytidine, cytidylic acid
Described herein is a method of sequencing a template that comprises a direct repeat, comprising: (a) in the same reaction, hybridizing a primer to a first site that is upstream of the first repeat sequence and hybridizing a primer to a second site that is upstream of the second repeat sequence, wherein the first and second sites are: (i) upstream of the first and second repeat sequences, respectively, and (ii) equidistant from the first and second repeat sequences; and (b) subjecting the hybridization product of (a) to a sequencing-by-synthesis sequencing reaction to produce a sequence read that comprises a combination of the first and second repeat sequences.
The invention relates to a trypanosomal vaccine, to pharmaceutical compositions comprising said vaccine and to their uses in vaccination to prevent trypanosomal infection in a mammal.
The invention relates to a trypanosomalvaccine, to pharmaceutical compositions comprising said vaccine and to their uses in vaccination to prevent trypanosomal infection in a mammal.
C07K 14/44 - Peptides having more than 20 amino acidsGastrinsSomatostatinsMelanotropinsDerivatives thereof from animalsPeptides having more than 20 amino acidsGastrinsSomatostatinsMelanotropinsDerivatives thereof from humans from protozoa
A61P 33/02 - Antiprotozoals, e.g. for leishmaniasis, trichomoniasis, toxoplasmosis
Described herein is a population of direct repeat molecules, where each molecule of the population contains a direct repeat composed of sequences that are amplified from the opposite strands of a double-stranded fragment of genomic DNA. Within each molecule, the first repeat (referred to as TOP) is amplified from the one strand of a double-stranded fragment of genomic DNA and the second repeat (referred to as BOT′) is amplified from the other strand of the same fragment of double-stranded fragment of genomic DNA.
The present invention provides a method of detecting mutational signatures in a DNA sample. The invention relates to method of detecting signatures arising from rearrangements in the DNA in the sample and determining the contributions of known rearrangement signatures to said rearrangements. In particular embodiments, the contributions are determined by computing the cosine similarity between the rearrangement mutations in said catalogue and the rearrangement mutational signatures. The rearrangement signatures are classified based on whether they are clustered or not, whether they are tandem duplications, deletions, inversions or translocations and on the basis of their size.
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
A pharmaceutical composition comprising a canine, feline or equine antibody having a lambda light chain or a functional fragment or functional derivative thereof, and a pharmaceutically acceptable excipient or carrier, for use or suitable for use in the prevention or treatment of disease ion a dog, cat, or horse, respectively.
We describe a method and apparatus for analysing a sample. The method may comprise extracting a plurality of sequence reads from within the sample. Genomic analysis is then performed on the plurality of sequence reads by comparing the plurality of sequence reads to reference genomes stored in a reference database, wherein each stored reference genome comprises a set of reference sequences. Before performing the genomic analysis, the method further comprises comparing screening sequences with at least one of the set of reference sequences and the plurality of sequence reads from the sample. When it is determined that a screening sequence matches at least one sequence within either the set of reference sequences or the plurality of sequence reads, the at least one matching sequence is masked.
The present invention relates inter alia to a rodent or rodent cell having a genome comprising: i) one or more companion animal IGH V region genes, one or more companion animal D region genes and one or more companion animal J region genes; and (ii) optionally one or more companion animal IGL kappa V region genes and one or more companion animal IGL kappa J region genes; and/or one or more companion animal IGL lambda V region genes and one or more companion animal IGL lambda J region genes, wherein the rodent or rodent cell is capable of expressing the companion animal variable region gene(s) to form an antibody chain and wherein the companion animal species is not a rodent.
A method, for the identification of bacterial isolates suitable for use in bacteriotherapy, the method comprising: (i) preparing a suspension of material collected from a host harbouring microbiota; (ii) addition of an activator of bacterial spores sufficient to allow growth of bacteria from spores present in the suspension; (iii) culturing the suspension; and (iv) identification of at least one bacterial species within the culture.
A61K 35/747 - Lactobacilli, e.g. L. acidophilus or L. brevis
C12Q 1/04 - Determining presence or kind of microorganismUse of selective media for testing antibiotics or bacteriocidesCompositions containing a chemical indicator therefor
A61K 35/744 - Lactic acid bacteria, e.g. enterococci, pediococci, lactococci, streptococci or leuconostocs
C12Q 1/689 - Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for detection or identification of organisms for bacteria
The invention provides a method of characterising a DNA sample obtained from a tumour, the method including the steps of: determining the presence or absence of a plurality of base substitution signatures, rearrangement signatures and indel signatures in the sample and copy number profiles for the sample; generating, from the presence or absence of said plurality of base substitution signatures, rearrangement signatures and indel signatures and the copy number profile for the sample, a probabilistic score; and based on said probabilistic score, identifying whether said sample has a high or low likelihood of being homologous recombination (HR)-deficient. Identification of a tumour as HR-deficient may be used to inform treatment choices, for example treatment with a PARP inhibitor or platinum therapy or an anthracycline.
G16B 25/10 - Gene or protein expression profilingExpression-ratio estimation or normalisation
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
The present invention provides methods of characterising a DNA sample obtained from a tumour to produce an interpreted profile of the tumour based on a combination of a range of tests on the tumour, the tests including a selection from: determining a catalogue of base substitution signatures which are present in the sample; determining a catalogue of rearrangement signatures which are present in the sample; determining a catalogue of insertion/deletion signatures which are present in the sample; determining the overall copy number profile in the sample and identifying putative driver mutations present in the sample.
The present invention relates to the identification of a number of mutational signatures in patients with cancer. The mutational signatures include new base substitution signatures and rearrangement signatures. The signatures were identified by whole genome sequencing of 560 breast cancers and the application of new and existing mathematical methods to the base substitution and rearrangements found in those cancers.
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 1/6809 - Methods for determination or identification of nucleic acids involving differential 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
Described herein is a population of direct repeat molecules, where each molecule of the population contains a direct repeat composed of sequences that are amplified from the opposite strands of a double-stranded fragment of genomic DNA. Within each molecule, the first repeat (referred to as TOP) is amplified from the one strand of a double-stranded fragment of genomic DNA and the second repeat (referred to as BOT') is amplified from the other strand of the same fragment of double-stranded fragment of genomic DNA.
Methods are provided of using a database that stores a plurality of reference genomes and phylogenetic information which relates the stored reference genomes to each other in a phylogenetic structure. These methods are useful in analysing the bacteria and/or bacterial lineages present in a sample and to identify a bacterium for use in therapy.
G06F 19/14 - for phylogeny or evolution, e.g. evolutionarily conserved regions determination or phylogenetic tree construction
G06F 19/28 - for programming tools or database systems, e.g. ontologies, heterogeneous data integration, data warehousing or computing architectures
G06F 19/22 - for sequence comparison involving nucleotides or amino acids, e.g. homology search, motif or Single-Nucleotide Polymorphism [SNP] discovery or sequence alignment
The invention relates to a pneumococcal vaccine, to pharmaceutical compositions comprising said vaccine and to their uses in vaccination against pathogenic pneumococcal strains.
C07K 14/315 - Peptides having more than 20 amino acidsGastrinsSomatostatinsMelanotropinsDerivatives thereof from bacteria from Streptococcus (G), e.g. Enterococci
The present invention relates inter alia to a rodent or rodent cell having a genome comprising: i) one or more companion animal IGH V region genes, one or more companion animal D region genes and one or more companion animal J region genes; and(ii) optionally one or more companion animal IGL kappa V region genes and one or more companion animal IGL kappa J region genes; and/or one or more companion animal IGL lambda V region genes and one or more companion animal IGL lambda J region genes, wherein the rodent or rodent cell is capable of expressing the companion animal variable region gene(s) to form an antibody chain and wherein the companion animal species is not a rodent.
STICHTING HET NEDERLANDS KANKER INSTITUUT - ANTONI VAN LEEUWENHOEK ZIEKENHUIS (Netherlands)
Inventor
Ranzani, Marco
Adams, David
Peeper, Daniel Simon
Krijgsman, Oscar
Kemper, Kristel
Abstract
The invention relates to the use of AXL as a biomarker for identifying responders to cancer treatment with a pharmaceutical composition comprising one or more tyrosine kinase inhibitors in combination with one or more MEK inhibitors. The invention also relates to said pharmaceutical compositions for use in the treatment of cancer and methods of treating cancer comprising said pharmaceutical compositions.
C12Q 1/48 - Measuring or testing processes involving enzymes, nucleic acids or microorganismsCompositions thereforProcesses of preparing such compositions involving transferase
G01N 33/574 - ImmunoassayBiospecific binding assayMaterials therefor for cancer
60.
In vitro production of expanded potential stem cells
A culture medium is provided which is capable of establishing expanded potential stem cell (EPSC) lines which resemble naive or ground state ES cells, but are also able to differentiate into placenta trophoblasts and the embryo proper. Methods are provided using the medium for the in vitro conversion and maintenance of cells, including pluripotent cells into EPSCs.
The invention relates to the classification of breast and ovarian tumours, and in particular to the use of particular rearrangement signatures to identify tumours as deficient in homologous recombination repair (HR-deficient). The inventors have identified particular chromosomal "hotspots" of recombination in breast and ovarian cancers which permit the homologous recombination repair status of a cancer to be assessed by determining the presence of recombination events within those specific hotspots, rather than by analysing the entire cancer genome for the presence of rearrangement signatures as a whole.
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
The invention relates to a kit for amplifying immunoglobulin sequences and methods thereof, and their use and application in methods for the characterisation of a B-cell repertoire.
C12Q 1/68 - Measuring or testing processes involving enzymes, nucleic acids or microorganismsCompositions thereforProcesses of preparing such compositions involving nucleic acids
G06F 19/16 - for molecular structure, e.g. structure alignment, structural or functional relations, protein folding, domain topologies, drug targeting using structure data, involving two-dimensional or three-dimensional structures
The present invention relates to the identification of a number of mutational signatures in patients with cancer. The mutational signatures include new base substitution signatures and rearrangement signatures. The signatures were identified by whole genome sequencing of 560 breast cancers and the application of new and existing mathematical methods to the base substitution and rearrangements found in those cancers.
C12Q 1/68 - Measuring or testing processes involving enzymes, nucleic acids or microorganismsCompositions thereforProcesses of preparing such compositions involving nucleic acids
G06F 19/24 - for machine learning, data mining or biostatistics, e.g. pattern finding, knowledge discovery, rule extraction, correlation, clustering or classification
The present invention provides methods of characterising a DNA sample obtained from a tumour to produce an interpreted profile of the tumour based on a combination of a range of tests on the tumour, the tests including a selection from: determining a catalogue of base substitution signatures which are present in the sample; determining a catalogue of rearrangement signatures which are present in the sample; determining a catalogue of insertion/deletion signatures which are present in the sample; determining the overall copy number profile in the sample and identifying putative driver mutations present in the sample.
G06F 19/18 - for functional genomics or proteomics, e.g. genotype-phenotype associations, linkage disequilibrium, population genetics, binding site identification, mutagenesis, genotyping or genome annotation, protein-protein interactions or protein-nucleic acid interactions
G06F 19/24 - for machine learning, data mining or biostatistics, e.g. pattern finding, knowledge discovery, rule extraction, correlation, clustering or classification
C12Q 1/68 - Measuring or testing processes involving enzymes, nucleic acids or microorganismsCompositions thereforProcesses of preparing such compositions involving nucleic acids
66.
METHOD OF DETECTING A MUTATIONAL SIGNATURE IN A SAMPLE
The present invention provides a method of detecting mutational signatures in a DNA sample. The invention relates to method of detecting signatures arising from rearrangements in the DNA in the sample and determining the contributions of known rearrangement signatures to said rearrangements. In particular embodiments, the contributions are determined by computing the cosine similarity between the rearrangement mutations in said catalogue and the rearrangement mutational signatures. The rearrangement signatures are classified based on whether they are clustered or not, whether they are tandem duplications, deletions, inversions or translocations and on the basis of their size.
G06F 19/18 - for functional genomics or proteomics, e.g. genotype-phenotype associations, linkage disequilibrium, population genetics, binding site identification, mutagenesis, genotyping or genome annotation, protein-protein interactions or protein-nucleic acid interactions
G06F 19/24 - for machine learning, data mining or biostatistics, e.g. pattern finding, knowledge discovery, rule extraction, correlation, clustering or classification
The invention provides a method of characterising a DNA sample obtained from a tumour, the method including the steps of: determining the presence or absence of a plurality of base substitution signatures, rearrangement signatures and indel signatures in the sample and copy number profiles for the sample; generating, from the presence or absence of said plurality of base substitution signatures, rearrangement signatures and indel signatures and the copy number profile for the sample, a probabilistic score; and based on said probabilistic score, identifying whether said sample has a high or low likelihood of being homologous recombination (HR) -deficient. Identification of a tumour as HR-deficient may be used to inform treatment choices, for example treatment with a PARP inhibitor or platinum therapy or an anthracycline.
G06F 19/18 - for functional genomics or proteomics, e.g. genotype-phenotype associations, linkage disequilibrium, population genetics, binding site identification, mutagenesis, genotyping or genome annotation, protein-protein interactions or protein-nucleic acid interactions
The invention relates to therapeutic compositions comprising at least one isolated bacterium and a pharmaceutically acceptable excipient, as well as methods of preparing such therapeutic compositions. The therapeutic compositions find application in the treatment of dysbiosis, in particular dysbiosis of the gastrointestinal tract.
Methods are provided of using a database that stores a plurality of reference genomes and phylogenetic information which relates the stored reference genomes to each other in a phylogenetic structure. These methods are useful in analysing the bacteria and/or bacterial lineages present in a sample and to identify a bacterium for use in therapy.
G06F 19/14 - for phylogeny or evolution, e.g. evolutionarily conserved regions determination or phylogenetic tree construction
G06F 19/22 - for sequence comparison involving nucleotides or amino acids, e.g. homology search, motif or Single-Nucleotide Polymorphism [SNP] discovery or sequence alignment
G06F 19/28 - for programming tools or database systems, e.g. ontologies, heterogeneous data integration, data warehousing or computing architectures
This invention relates to a non-invasive method for obtaining samples of olfactory epithelium (OE) cells, such as olfactory sensory neurons (OSNs), from patients. The method comprises directing a jet of sampling solution into a nostril of an individual, recovering the sampling solution from a nostril of the individual, and isolating olfactory epithelium cells from the recovered sampling solution. Samples obtained by this method may be useful in for a range of research and diagnostic applications, including the diagnosis and prognosis of diseases such as CNS disorders, neurodegenerative disease, psychiatric diseases or cancer.
A61B 10/00 - Instruments for taking body samples for diagnostic purposesOther methods or instruments for diagnosis, e.g. for vaccination diagnosis, sex determination or ovulation-period determinationThroat striking implements
The present invention relates to a method for generating a biallelic genetic modification in the genome of a cell and screening for cells that comprise said biallelic genetic modification. Methods for generating cells with revertant wild type alleles are also provided.
A culture medium is provided which is capable of establishing expanded potential stem cell (EPSC) lines which resemble naive or ground state ES cells, but are also able to differentiate into placenta trophoblasts and the embryo proper. Methods are provided using the medium for the in vitro conversion and maintenance of cells, including pluripotent cells into EPSCs.
A method, for the identification of bacterial isolates suitable for use in bacteriotherapy, the method comprising: (i) preparing a suspension of material collected from a host harboring microbiota; (ii) addition of an activator of bacterial spores sufficient to allow growth of bacteria from spores present in the suspension; (iii) culturing the suspension; and (iv) identification of at least one bacterial species within the culture.
C12Q 1/04 - Determining presence or kind of microorganismUse of selective media for testing antibiotics or bacteriocidesCompositions containing a chemical indicator therefor
A61K 35/747 - Lactobacilli, e.g. L. acidophilus or L. brevis
A61K 35/744 - Lactic acid bacteria, e.g. enterococci, pediococci, lactococci, streptococci or leuconostocs
C12Q 1/689 - Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for detection or identification of organisms for bacteria
74.
GENOMIC SCREENING METHODS USING RNA-GUIDED ENDONUCLEASES
This invention relates to the genomic screening of libraries of mutant mammalian cells in which each cell has a target gene inactivated by expression of an RNA-guided endonuclease and a guide RNA molecule (gRNA) specific for the target gene. The library of mutant cells expresses gRNA molecules specific for a set of target genes and a target gene from the set of target genes is inactivated in each cell in the library. Mutant mammalian cells that display a test phenotype from said library are selected and one or more nucleic acid sequences that encode gRNA molecules identified in the selected cell population. From these nucleic acid sequences, the target genes that mediate the test phenotype may be identified. Screening methods and libraries and vector populations for use in screening methods are provided.
Agents and methods for modulation of platelet aggregation, thrombus formation and/or thrombus stability. Agents and methods may modulate interaction between platelet endothelium aggregation receptor 1 (PEAR1) and FcεR1α;, and may be used in modulation of an allergy response.
C07K 16/28 - Immunoglobulins, e.g. monoclonal or polyclonal antibodies against material from animals or humans against receptors, cell surface antigens or cell surface determinants
C07K 16/42 - Immunoglobulins, e.g. monoclonal or polyclonal antibodies against immunoglobulins (anti-idiotypic antibodies)
76.
NUCLEIC ACID MARKER MOLECULES FOR IDENTIFYING AND DETECTING CROSS CONTAMINATION OF NUCLEIC ACID SAMPLES
Nucleic acid marker molecules for marking nucleic acid samples, in particular prior to sequencing, are disclosed. Marking of nucleic acid samples with the nucleic acid marker molecules allows identification of nucleic acid samples and resolution of sample mix- ups, as well as detection of sample cross contamination. The nucleic acid marker molecules are particularly useful for marking nucleic acid samples prior to sequencing using parallel sequencing techniques.
The present invention relates to a reagent binding to a highly conserved HIV-1 sequence, wherein the highly conserved HIV-1 sequence is SEQ ID NO: 1, SEQ ID NO: 2, SEQ ID NO: 3, SEQ ID NO: 4, SEQ ID NO: 5, SEQ ID NO: 6¸ SEQ ID NO: 7, SEQ ID NO: 8, SEQ ID NO: 9, SEQ ID NO: 10, SEQ ID NO: 11, SEQ ID NO: 12, SEQ ID NO: 13, SEQ ID NO: 14, SEQ ID NO: 15 or SEQ ID NO: 16; or the RNA form of any of SEQ ID NOS: 1 to 8.
C12Q 1/70 - Measuring or testing processes involving enzymes, nucleic acids or microorganismsCompositions thereforProcesses of preparing such compositions involving virus or bacteriophage
A method, for the identification of bacterial isolates suitable for use in bacteriotherapy, the method comprising: (i)preparing a suspension of material collected from a host harbouring microbiota; (ii)addition of an activator of bacterial spores sufficient to allow growth of bacteria from spores present in the suspension; (iii)culturing the suspension; and (iv)identification of at least one bacterial species within the culture.
C12Q 1/04 - Determining presence or kind of microorganismUse of selective media for testing antibiotics or bacteriocidesCompositions containing a chemical indicator therefor
A61K 38/17 - Peptides having more than 20 amino acidsGastrinsSomatostatinsMelanotropinsDerivatives thereof from animalsPeptides having more than 20 amino acidsGastrinsSomatostatinsMelanotropinsDerivatives thereof from humans
Immunogenic compositions and vaccines against Plasmodialinfection comprising an Rh polypeptide or a fragment or variant thereof are dislcosed. Also disclosed are Rh5 polypeptides or fragments or variants thereof capable of binding CD147 and conferring protection against infection and/or disease caused by multiple Plasmodial strains or Plasmodialspecies, inhibitors of the interaction between Rh5 and CD147 and methods for producing polypeptides in a mammalian expression system.
In one aspect the present invention provides a method for detecting a mutation associated with renal cancer in a subject, comprising screening a test sample derived from the subject for the presence of one or more mutations in a PBRMl gene or a product thereof.
A monitoring method comprising identifying a somatically acquired genomic rearrangement associated with a disease state in a patient by genome-wide analysis of the nucleic acid of that patient and monitoring the changes in levels of nucleic acid containing the genomic rearrangement, and/or quantifying the levels of nucleic acid containing the genomic rearrangement as a marker for the progression or severity of a disease in that patient is described. Use of a monitoring process of the invention in assessment of efficacy of a therapy and use of a patient specific genomic rearrangement as a biomarker for disease progression in that patient are also described.
Reprogrammed somatic cells, methods for reprogramming, reprogramming factors for somatic cells and uses of such factors and cells are described. Nuclear reprogramming factors [NRF] described comprise one or more of a gene product or a polynucleic acid encoding a gene product from a retinoic acid receptor (RAR/RXR) family member, or an agonist or antagonist thereof; a gene product from an Lrh1 family member; or an agonist thereof; retinoic acid or a gene product involved in synthesizing or metabolizing retinoic acid; or an agonist or antagonist thereof; or a gene product that is involved in transporting a retinoic acid family member.
Method of producing induced T-to-Natural-Killer [ITNK] cells, target T cells and/or target pro-T cells from T cells and/or pro-T cellswhich method involvesmodulating the activity and/or effect of at least one Bcl11b gene and/or protein present in a T cell and/or pro-T cell, and converting said T cell and/or pro-T cell to an ITNK cell or target Tcells and/or target pro-T cells is described. ITNK cells, target T cells and/or target pro-T cells produced by such method and mature activated T cells in which Bcl11b expression is downregulated or absent,and the use of such cells or modulators of Bcl11b in medicine is also described.
A method for sequencing of polynucleic acids, the method comprising the steps of (i) ligating a library of polynucleic acid fragments to adapters which facilitate hybridisation of the library fragment to a solid support to provide a surface bound polynucleic acid; (ii) amplification of the surface bound polynucleic acid fragment by multiple cycles of annealing, extension and denaturation ("cluster amplification"); and (iii) sequencing the amplified polynucleic acids, wherein the polynucleic acid fragments ligated to adapters are not amplified prior to binding to the solid support.
UNIVERSITAIR MEDISCH CENTRUM GRONINGEN (Netherlands)
THE PROVOST FELLOWS AND SCHOLARS OF THE COLLEGE OF QUEEN ELIZABETH NEAR DUBLIN (Ireland)
GENOME RESEARCH LIMITED (United Kingdom)
Inventor
Van Heel, David
Hunt, Karen
Wijmenga, Cisca
Mcmanus, Owen, Ross
Deloukas, Panagiotis
Abstract
The present invention provides a method of diagnosing coeliac disease, said method comprising analysing a sample of nucleic acid from a human subject to determine the presence or absence of one or more single nucleic polymorphisms (SNPs) in one or more human chromosomal regions selected from the group consisting of Iq31, 2ql l-2ql2, 3p21, 3q25-3q26, 3q28, 6q25 and 12q24.
patents
