SG10201912285UA - Validation methods and systems for sequence variant calls - Google Patents

Validation methods and systems for sequence variant calls

Info

Publication number
SG10201912285UA
SG10201912285UA SG10201912285UA SG10201912285UA SG10201912285UA SG 10201912285U A SG10201912285U A SG 10201912285UA SG 10201912285U A SG10201912285U A SG 10201912285UA SG 10201912285U A SG10201912285U A SG 10201912285UA SG 10201912285U A SG10201912285U A SG 10201912285UA
Authority
SG
Singapore
Prior art keywords
systems
sequence variant
validation methods
variant calls
calls
Prior art date
Application number
SG10201912285UA
Other languages
English (en)
Inventor
Xiao Chen
Chen Zhao
Jessica Gordon
Shile Zhang
Tingting Jiang
Gwenn Berry
Yesha Shah
Han-Yu Chuang
Original Assignee
Illumina 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 Illumina Inc filed Critical Illumina Inc
Publication of SG10201912285UA publication Critical patent/SG10201912285UA/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
    • G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • 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
    • 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
    • G16B30/00—ICT specially adapted for sequence analysis involving nucleotides or amino acids
SG10201912285UA 2016-11-16 2017-11-14 Validation methods and systems for sequence variant calls SG10201912285UA (en)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
US201662422841P 2016-11-16 2016-11-16
US201762447076P 2017-01-17 2017-01-17

Publications (1)

Publication Number Publication Date
SG10201912285UA true SG10201912285UA (en) 2020-02-27

Family

ID=60570225

Family Applications (1)

Application Number Title Priority Date Filing Date
SG10201912285UA SG10201912285UA (en) 2016-11-16 2017-11-14 Validation methods and systems for sequence variant calls

Country Status (10)

Country Link
US (1) US20190348149A1 (ja)
EP (1) EP3542291A1 (ja)
JP (1) JP7113838B2 (ja)
KR (1) KR102638152B1 (ja)
CN (1) CN110168648A (ja)
AU (2) AU2017360993A1 (ja)
BR (1) BR112019009949A2 (ja)
CA (1) CA3044231A1 (ja)
SG (1) SG10201912285UA (ja)
WO (1) WO2018093780A1 (ja)

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WO2017027653A1 (en) 2015-08-11 2017-02-16 The Johns Hopkins University Assaying ovarian cyst fluid
EP3665308A1 (en) 2017-08-07 2020-06-17 The Johns Hopkins University Methods and materials for assessing and treating cancer
KR102356323B1 (ko) 2017-11-30 2022-01-26 일루미나, 인코포레이티드 서열 변이체 콜에 대한 검증방법 및 시스템
US11705219B2 (en) 2018-01-15 2023-07-18 Illumina, Inc. Deep learning-based variant classifier
SE541799C2 (en) * 2018-04-11 2019-12-17 David Yudovich Determination of frequency distribution of nucleotide sequence variants
WO2020043560A1 (en) * 2018-08-28 2020-03-05 Koninklijke Philips N.V. Method for assessing genome alignment basis
CN109935275B (zh) * 2018-12-29 2021-09-07 北京安诺优达医学检验实验室有限公司 序列变异校验方法和装置、生产变异序列的方法和装置及电子设备
AU2020345621A1 (en) * 2019-09-09 2022-04-07 University Of Utah Research Foundation Targeted sequencing to detect and quantify low levels of methylated DNA
CN110867207B (zh) * 2019-11-26 2021-07-30 北京橡鑫生物科技有限公司 验证ngs变异检测方法的评估方法及评估装置
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CN115064212B (zh) * 2022-06-24 2023-03-14 哈尔滨星云生物信息技术开发有限公司 基于wgs数据的预设区域人群肿瘤特异突变识别方法

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Also Published As

Publication number Publication date
CN110168648A (zh) 2019-08-23
EP3542291A1 (en) 2019-09-25
BR112019009949A2 (pt) 2019-08-20
KR102638152B1 (ko) 2024-02-16
KR20190077097A (ko) 2019-07-02
US20190348149A1 (en) 2019-11-14
WO2018093780A1 (en) 2018-05-24
AU2023251452A1 (en) 2023-11-09
JP7113838B2 (ja) 2022-08-05
JP2020506489A (ja) 2020-02-27
AU2017360993A1 (en) 2019-06-13
CA3044231A1 (en) 2018-05-24

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