AU2015318017B2 - 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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AU2015318017B2
AU2015318017B2 AU2015318017A AU2015318017A AU2015318017B2 AU 2015318017 B2 AU2015318017 B2 AU 2015318017B2 AU 2015318017 A AU2015318017 A AU 2015318017A AU 2015318017 A AU2015318017 A AU 2015318017A AU 2015318017 B2 AU2015318017 B2 AU 2015318017B2
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allele
reads
read
sample
alleles
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AU2015318017A1 (en
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Jocelyne BRUAND
Johann Felix Schlesinger
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Illumina Inc
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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)
AU2015318017A 2014-09-18 2015-09-15 Methods and systems for analyzing nucleic acid sequencing data Active AU2015318017B2 (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

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AU2015318017A1 AU2015318017A1 (en) 2017-03-30
AU2015318017B2 true AU2015318017B2 (en) 2022-02-03

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US (2) US20160085910A1 (enExample)
EP (1) EP3194627B1 (enExample)
JP (1) JP6802154B2 (enExample)
KR (1) KR102538753B1 (enExample)
CN (1) CN107002121B (enExample)
AU (1) AU2015318017B2 (enExample)
SA (1) SA517381091B1 (enExample)
WO (1) WO2016044233A1 (enExample)

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Also Published As

Publication number Publication date
KR20170056682A (ko) 2017-05-23
JP2017528140A (ja) 2017-09-28
CN107002121A (zh) 2017-08-01
JP6802154B2 (ja) 2020-12-16
CA2960840A1 (en) 2016-03-24
US20160085910A1 (en) 2016-03-24
AU2015318017A1 (en) 2017-03-30
WO2016044233A1 (en) 2016-03-24
SA517381091B1 (ar) 2021-03-31
KR102538753B1 (ko) 2023-05-31
EP3194627A4 (en) 2018-05-30
CN107002121B (zh) 2020-11-13
EP3194627A1 (en) 2017-07-26
US20210375396A1 (en) 2021-12-02
EP3194627B1 (en) 2023-08-16
EP3194627C0 (en) 2023-08-16

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