CA2960840A1 - Methods and systems for analyzing nucleic acid sequencing data - Google Patents

Methods and systems for analyzing nucleic acid sequencing data Download PDF

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Publication number
CA2960840A1
CA2960840A1 CA2960840A CA2960840A CA2960840A1 CA 2960840 A1 CA2960840 A1 CA 2960840A1 CA 2960840 A CA2960840 A CA 2960840A CA 2960840 A CA2960840 A CA 2960840A CA 2960840 A1 CA2960840 A1 CA 2960840A1
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Canada
Prior art keywords
allele
read
alleles
reads
potential
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Pending
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CA2960840A
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English (en)
French (fr)
Inventor
Jocelyne BRUAND
Johann Felix Schlesinger
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Illumina Inc
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Illumina Inc
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Application filed by Illumina Inc filed Critical Illumina Inc
Publication of CA2960840A1 publication Critical patent/CA2960840A1/en
Pending legal-status Critical Current

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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
    • G16B30/00—ICT specially adapted for sequence analysis involving nucleotides or amino acids
    • 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
    • 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
    • G16B20/10—Ploidy or copy number 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
    • 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
    • G16B30/10—Sequence alignment; Homology search
    • 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
    • G16B45/00—ICT specially adapted for bioinformatics-related data visualisation, e.g. displaying of maps or networks

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  • Physics & Mathematics (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Health & Medical Sciences (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Theoretical Computer Science (AREA)
  • Evolutionary Biology (AREA)
  • Biophysics (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Medical Informatics (AREA)
  • General Health & Medical Sciences (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Biotechnology (AREA)
  • Analytical Chemistry (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Chemical & Material Sciences (AREA)
  • Molecular Biology (AREA)
  • Genetics & Genomics (AREA)
  • Data Mining & Analysis (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Apparatus Associated With Microorganisms And Enzymes (AREA)
CA2960840A 2014-09-18 2015-09-15 Methods and systems for analyzing nucleic acid sequencing data Pending CA2960840A1 (en)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US201462052189P 2014-09-18 2014-09-18
US62/052,189 2014-09-18
PCT/US2015/050129 WO2016044233A1 (en) 2014-09-18 2015-09-15 Methods and systems for analyzing nucleic acid sequencing data

Publications (1)

Publication Number Publication Date
CA2960840A1 true CA2960840A1 (en) 2016-03-24

Family

ID=55525984

Family Applications (1)

Application Number Title Priority Date Filing Date
CA2960840A Pending CA2960840A1 (en) 2014-09-18 2015-09-15 Methods and systems for analyzing nucleic acid sequencing data

Country Status (9)

Country Link
US (2) US20160085910A1 (https=)
EP (1) EP3194627B1 (https=)
JP (1) JP6802154B2 (https=)
KR (1) KR102538753B1 (https=)
CN (1) CN107002121B (https=)
AU (1) AU2015318017B2 (https=)
CA (1) CA2960840A1 (https=)
SA (1) SA517381091B1 (https=)
WO (1) WO2016044233A1 (https=)

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Also Published As

Publication number Publication date
AU2015318017A1 (en) 2017-03-30
CN107002121B (zh) 2020-11-13
KR102538753B1 (ko) 2023-05-31
EP3194627B1 (en) 2023-08-16
EP3194627A1 (en) 2017-07-26
WO2016044233A1 (en) 2016-03-24
CN107002121A (zh) 2017-08-01
KR20170056682A (ko) 2017-05-23
EP3194627A4 (en) 2018-05-30
JP2017528140A (ja) 2017-09-28
JP6802154B2 (ja) 2020-12-16
AU2015318017B2 (en) 2022-02-03
US20210375396A1 (en) 2021-12-02
EP3194627C0 (en) 2023-08-16
US20160085910A1 (en) 2016-03-24
SA517381091B1 (ar) 2021-03-31

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