SG11202002381TA - Methods and systems for differentiating somatic and germline variants - Google Patents

Methods and systems for differentiating somatic and germline variants

Info

Publication number
SG11202002381TA
SG11202002381TA SG11202002381TA SG11202002381TA SG11202002381TA SG 11202002381T A SG11202002381T A SG 11202002381TA SG 11202002381T A SG11202002381T A SG 11202002381TA SG 11202002381T A SG11202002381T A SG 11202002381TA SG 11202002381T A SG11202002381T A SG 11202002381TA
Authority
SG
Singapore
Prior art keywords
systems
methods
germline variants
differentiating somatic
somatic
Prior art date
Application number
SG11202002381TA
Inventor
Tracy Nance
Elena Helman
Darya Chudova
Original Assignee
Guardant Health Inc
Priority date (The priority date is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the date listed.)
Filing date
Publication date
Application filed by Guardant Health Inc filed Critical Guardant Health Inc
Publication of SG11202002381TA publication Critical patent/SG11202002381TA/en

Links

Classifications

    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B5/00—ICT specially adapted for modelling or simulations in systems biology, e.g. gene-regulatory networks, protein interaction networks or metabolic networks
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B40/00—ICT specially adapted for biostatistics; ICT specially adapted for bioinformatics-related machine learning or data mining, e.g. knowledge discovery or pattern finding
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12P—FERMENTATION OR ENZYME-USING PROCESSES TO SYNTHESISE A DESIRED CHEMICAL COMPOUND OR COMPOSITION OR TO SEPARATE OPTICAL ISOMERS FROM A RACEMIC MIXTURE
    • C12P19/00—Preparation of compounds containing saccharide radicals
    • C12P19/26—Preparation of nitrogen-containing carbohydrates
    • C12P19/28—N-glycosides
    • C12P19/30—Nucleotides
    • C12P19/34—Polynucleotides, e.g. nucleic acids, oligoribonucleotides
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6869—Methods for sequencing
    • G—PHYSICS
    • G06—COMPUTING; CALCULATING OR COUNTING
    • G06F—ELECTRIC DIGITAL DATA PROCESSING
    • G06F17/00—Digital computing or data processing equipment or methods, specially adapted for specific functions
    • G06F17/10—Complex mathematical operations
    • G06F17/18—Complex mathematical operations for evaluating statistical data, e.g. average values, frequency distributions, probability functions, regression analysis
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G16B20/20—Allele or variant detection, e.g. single nucleotide polymorphism [SNP] detection
SG11202002381TA 2017-09-20 2018-09-20 Methods and systems for differentiating somatic and germline variants SG11202002381TA (en)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
US201762561048P 2017-09-20 2017-09-20
PCT/US2018/052087 WO2019060640A1 (en) 2017-09-20 2018-09-20 Methods and systems for differentiating somatic and germline variants

Publications (1)

Publication Number Publication Date
SG11202002381TA true SG11202002381TA (en) 2020-04-29

Family

ID=63858071

Family Applications (1)

Application Number Title Priority Date Filing Date
SG11202002381TA SG11202002381TA (en) 2017-09-20 2018-09-20 Methods and systems for differentiating somatic and germline variants

Country Status (9)

Country Link
US (1) US20200327954A1 (en)
EP (1) EP3685386A1 (en)
JP (2) JP7242644B2 (en)
KR (1) KR20200057024A (en)
CN (1) CN111357054A (en)
AU (1) AU2018335405A1 (en)
CA (1) CA3075932A1 (en)
SG (1) SG11202002381TA (en)
WO (1) WO2019060640A1 (en)

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US11961589B2 (en) * 2017-11-28 2024-04-16 Grail, Llc Models for targeted sequencing
CN112752854A (en) 2018-07-23 2021-05-04 夸登特健康公司 Methods and systems for modulating tumor mutational burden by tumor score and coverage
US20220277808A1 (en) * 2021-02-19 2022-09-01 Twist Bioscience Corporation Libraries for identification of genomic variants
CN117594124A (en) * 2021-06-15 2024-02-23 南京医科大学 Kit, system and application for predicting glioma based on monocytes
CN115497556A (en) * 2021-06-18 2022-12-20 广州燃石医学检验所有限公司 Method for distinguishing somatic mutation from germline mutation
CN113278706B (en) * 2021-07-23 2021-11-12 广州燃石医学检验所有限公司 Method for distinguishing somatic mutation from germline mutation
KR102544002B1 (en) * 2022-03-10 2023-06-16 주식회사 아이엠비디엑스 Method for Differentiating Somatic Mutation and Germline Mutation

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JP2008513782A (en) 2004-09-17 2008-05-01 パシフィック バイオサイエンシーズ オブ カリフォルニア， インコーポレイテッド Apparatus and method for molecular analysis
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IL269097B2 (en) 2012-09-04 2024-01-01 Guardant Health Inc Systems and methods to detect rare mutations and copy number variation
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WO2018144782A1 (en) * 2017-02-01 2018-08-09 The Translational Genomics Research Institute Methods of detecting somatic and germline variants in impure tumors

Also Published As

Publication number Publication date
WO2019060640A1 (en) 2019-03-28
AU2018335405A1 (en) 2020-04-09
CN111357054A (en) 2020-06-30
EP3685386A1 (en) 2020-07-29
KR20200057024A (en) 2020-05-25
JP2020536509A (en) 2020-12-17
US20200327954A1 (en) 2020-10-15
JP2023052512A (en) 2023-04-11
CA3075932A1 (en) 2019-03-28
JP7242644B2 (en) 2023-03-20

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