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
read
sample
sequence
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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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    • 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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  • Engineering & Computer Science (AREA)
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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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CN111292809B (zh) * 2020-01-20 2021-03-16 至本医疗科技（上海）有限公司 用于检测rna水平基因融合的方法、电子设备和计算机存储介质
CN111326213B (zh) * 2020-02-20 2023-10-03 苏州金唯智生物科技有限公司 一种数据分析方法、装置、设备及存储介质
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CN114420208B (zh) * 2022-02-28 2023-04-18 上海亿康医学检验所有限公司 一种用于鉴定核酸样本中cnv的方法和装置
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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
JP6802154B2 (ja) 2020-12-16
US20160085910A1 (en) 2016-03-24
CA2960840A1 (en) 2016-03-24
SA517381091B1 (ar) 2021-03-31
CN107002121A (zh) 2017-08-01
KR20170056682A (ko) 2017-05-23

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