CN105722994B - 用于确定性染色体中的拷贝数变异的方法 - Google Patents

用于确定性染色体中的拷贝数变异的方法 Download PDF

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CN105722994B
CN105722994B CN201480045591.2A CN201480045591A CN105722994B CN 105722994 B CN105722994 B CN 105722994B CN 201480045591 A CN201480045591 A CN 201480045591A CN 105722994 B CN105722994 B CN 105722994B
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chromosome
sequence
sample
samples
sequencing
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CN105722994A (zh
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戴安娜·阿布杜伊瓦
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Verinata Health 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
    • G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G16B20/10—Ploidy or copy number detection
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6813—Hybridisation assays
    • C12Q1/6827—Hybridisation assays for detection of mutation or polymorphism
    • 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
    • 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
    • G16B30/00—ICT specially adapted for sequence analysis involving nucleotides or amino acids
    • G16B30/20—Sequence assembly

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  • Proteomics, Peptides & Aminoacids (AREA)
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CN201480045591.2A 2013-06-17 2014-06-17 用于确定性染色体中的拷贝数变异的方法 Expired - Fee Related CN105722994B (zh)

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US201361836057P 2013-06-17 2013-06-17
US61/836,057 2013-06-17
PCT/US2014/042785 WO2014204991A1 (en) 2013-06-17 2014-06-17 Method for determining copy number variations in sex chromosomes

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CN105722994A CN105722994A (zh) 2016-06-29
CN105722994B true CN105722994B (zh) 2020-12-18

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US (1) US20140371078A1 (enExample)
EP (2) EP3011052B1 (enExample)
JP (2) JP6521956B2 (enExample)
CN (1) CN105722994B (enExample)
AU (1) AU2014281635B2 (enExample)
CA (1) CA2915626A1 (enExample)
IL (1) IL242956B (enExample)
WO (1) WO2014204991A1 (enExample)

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US11342047B2 (en) 2017-04-21 2022-05-24 Illumina, Inc. Using cell-free DNA fragment size to detect tumor-associated variant
CN107119145A (zh) * 2017-07-13 2017-09-01 深圳瑞科生物科技有限公司 一种基于ddPCR定量检测ctDNA的方法
CN109390039B (zh) * 2017-08-11 2020-10-16 深圳华大基因股份有限公司 一种统计dna拷贝数信息的方法、装置及存储介质
CN111052249B (zh) * 2017-09-15 2024-04-05 深圳华大智造科技股份有限公司 确定预定染色体保守区域的方法、确定样本基因组中是否存在拷贝数变异的方法、系统和计算机可读介质
US11168356B2 (en) * 2017-11-02 2021-11-09 The Chinese University Of Hong Kong Using nucleic acid size range for noninvasive cancer detection
CN110800061B (zh) 2017-11-16 2024-10-11 伊鲁米那股份有限公司 用于确定微卫星不稳定性的系统和方法
CN108427864B (zh) * 2018-02-14 2019-01-29 南京世和基因生物技术有限公司 一种拷贝数变异的检测方法、装置以及计算机可读介质
US12154661B2 (en) 2018-03-22 2024-11-26 The Regents Of The University Of Michigan Method and apparatus for analysis of chromatin interaction data
TW202410055A (zh) * 2018-06-01 2024-03-01 美商格瑞爾有限責任公司 用於資料分類之卷積神經網路系統及方法
CN109136371B (zh) * 2018-07-25 2019-11-01 南京世和基因生物技术有限公司 一种放疗疗效和毒性反应相关基因组合、检测探针库以及检测试剂盒
KR102405245B1 (ko) * 2018-07-27 2022-06-07 주식회사 지씨지놈 전장유전체 시퀀싱 기반의 염색체 이상 검출 방법 및 그 용도
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CN113795887A (zh) * 2019-03-10 2021-12-14 阿尔缇玛基因组学公司 用于序列判定的方法和系统
CN111755066B (zh) * 2019-03-27 2022-10-18 欧蒙医学诊断（中国）有限公司 一种拷贝数变异的检测方法和实施该方法的设备
CN110534202A (zh) * 2019-08-21 2019-12-03 江南大学附属医院（无锡市第四人民医院） 一种针对Sox10在三阴性乳腺癌中的表达进行分析的系统
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CN113409885B (zh) * 2021-06-21 2022-09-20 天津金域医学检验实验室有限公司 一种自动化数据处理以及作图方法及系统
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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CN115273984B (zh) * 2022-09-30 2022-11-29 北京诺禾致源科技股份有限公司 鉴定基因组串联重复区域的方法及装置
CN115394359B (zh) * 2022-10-27 2023-03-24 北京大学第三医院（北京大学第三临床医学院） 一种通过转录组检测单细胞染色体拷贝数变异方法

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HK1223988A1 (en) 2017-08-11
CA2915626A1 (en) 2014-12-24
AU2014281635A1 (en) 2016-02-11
EP3011052B1 (en) 2019-05-22
CN105722994A (zh) 2016-06-29
JP7021148B2 (ja) 2022-02-16
JP2019153332A (ja) 2019-09-12
JP2016526380A (ja) 2016-09-05
US20140371078A1 (en) 2014-12-18
EP3011052A1 (en) 2016-04-27
JP6521956B2 (ja) 2019-05-29
EP3543354A1 (en) 2019-09-25
IL242956B (en) 2019-10-31
EP3543354B1 (en) 2022-01-19
AU2014281635B2 (en) 2020-05-28
WO2014204991A1 (en) 2014-12-24

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