JP6802154B2 - 核酸シーケンシングデータを解析するための方法およびシステム - Google Patents

核酸シーケンシングデータを解析するための方法およびシステム Download PDF

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JP6802154B2
JP6802154B2 JP2017514334A JP2017514334A JP6802154B2 JP 6802154 B2 JP6802154 B2 JP 6802154B2 JP 2017514334 A JP2017514334 A JP 2017514334A JP 2017514334 A JP2017514334 A JP 2017514334A JP 6802154 B2 JP6802154 B2 JP 6802154B2
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allele
locus
read
sample
sequence
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JP2017528140A (ja
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ブリュアン ジョセリーン
ブリュアン ジョセリーン
ヨハン シュレンジャー フェリックス
ヨハン シュレンジャー フェリックス
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イラミーナ インコーポレーテッド
イラミーナ インコーポレーテッド
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    • GPHYSICS
    • G16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B30/00ICT specially adapted for sequence analysis involving nucleotides or amino acids
    • GPHYSICS
    • G16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • GPHYSICS
    • G16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G16B20/10Ploidy or copy number detection
    • GPHYSICS
    • G16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G16B20/20Allele or variant detection, e.g. single nucleotide polymorphism [SNP] detection
    • GPHYSICS
    • G16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B30/00ICT specially adapted for sequence analysis involving nucleotides or amino acids
    • G16B30/10Sequence alignment; Homology search
    • GPHYSICS
    • G16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B45/00ICT 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)
JP2017514334A 2014-09-18 2015-09-15 核酸シーケンシングデータを解析するための方法およびシステム Active JP6802154B2 (ja)

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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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JP2017528140A JP2017528140A (ja) 2017-09-28
JP2017528140A5 JP2017528140A5 (enExample) 2018-11-22
JP6802154B2 true JP6802154B2 (ja) 2020-12-16

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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)
CA (1) CA2960840A1 (enExample)
SA (1) SA517381091B1 (enExample)
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Also Published As

Publication number Publication date
EP3194627B1 (en) 2023-08-16
EP3194627A1 (en) 2017-07-26
KR102538753B1 (ko) 2023-05-31
EP3194627C0 (en) 2023-08-16
EP3194627A4 (en) 2018-05-30
AU2015318017B2 (en) 2022-02-03
WO2016044233A1 (en) 2016-03-24
US20210375396A1 (en) 2021-12-02
AU2015318017A1 (en) 2017-03-30
JP2017528140A (ja) 2017-09-28
US20160085910A1 (en) 2016-03-24
CA2960840A1 (en) 2016-03-24
SA517381091B1 (ar) 2021-03-31
CN107002121A (zh) 2017-08-01
CN107002121B (zh) 2020-11-13
KR20170056682A (ko) 2017-05-23

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