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
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

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    • 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

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  • Physics & Mathematics (AREA)
  • Engineering & Computer Science (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Health & Medical Sciences (AREA)
  • Theoretical Computer Science (AREA)
  • Evolutionary Biology (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Biophysics (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Biotechnology (AREA)
  • Analytical Chemistry (AREA)
  • General Health & Medical Sciences (AREA)
  • Medical Informatics (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Chemical & Material Sciences (AREA)
  • Genetics & Genomics (AREA)
  • Molecular Biology (AREA)
  • General Physics & Mathematics (AREA)
  • Data Mining & Analysis (AREA)
  • Pure & Applied Mathematics (AREA)
  • Computational Mathematics (AREA)
  • Mathematical Optimization (AREA)
  • Mathematical Physics (AREA)
  • Mathematical Analysis (AREA)
  • Probability & Statistics with Applications (AREA)
  • Algebra (AREA)
  • Operations Research (AREA)
  • Databases & Information Systems (AREA)
  • Software Systems (AREA)
  • General Engineering & Computer Science (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Programmable Controllers (AREA)
  • Logic Circuits (AREA)
  • Saccharide Compounds (AREA)
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 (en)
EP (1) EP3542291A1 (en)
JP (1) JP7113838B2 (en)
KR (1) KR102638152B1 (en)
CN (1) CN110168648A (en)
AU (2) AU2017360993A1 (en)
BR (1) BR112019009949A2 (en)
CA (1) CA3044231A1 (en)
SG (1) SG10201912285UA (en)
WO (1) WO2018093780A1 (en)

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US11286531B2 (en) 2015-08-11 2022-03-29 The Johns Hopkins University Assaying ovarian cyst fluid
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Also Published As

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

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