CN107002121B - 用于分析核酸测序数据的方法和系统 - Google Patents

用于分析核酸测序数据的方法和系统 Download PDF

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CN107002121B
CN107002121B CN201580050718.4A CN201580050718A CN107002121B CN 107002121 B CN107002121 B CN 107002121B CN 201580050718 A CN201580050718 A CN 201580050718A CN 107002121 B CN107002121 B CN 107002121B
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allele
reads
sequence
locus
sample
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CN107002121A (zh
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J.布鲁安德
J.F.施莱辛格
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Illumina Inc
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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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CN201580050718.4A 2014-09-18 2015-09-15 用于分析核酸测序数据的方法和系统 Active CN107002121B (zh)

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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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CA2960840A1 (en) 2016-03-24
AU2015318017A1 (en) 2017-03-30
EP3194627A4 (en) 2018-05-30
JP6802154B2 (ja) 2020-12-16
AU2015318017B2 (en) 2022-02-03
US20160085910A1 (en) 2016-03-24
WO2016044233A1 (en) 2016-03-24
CN107002121A (zh) 2017-08-01
KR102538753B1 (ko) 2023-05-31
SA517381091B1 (ar) 2021-03-31
KR20170056682A (ko) 2017-05-23
US20210375396A1 (en) 2021-12-02
JP2017528140A (ja) 2017-09-28
EP3194627C0 (en) 2023-08-16
EP3194627A1 (en) 2017-07-26
EP3194627B1 (en) 2023-08-16

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