HK1223988A1 - 用於確定性染色體中的拷貝數變異的方法 - Google Patents

用於確定性染色體中的拷貝數變異的方法

Info

Publication number
HK1223988A1
HK1223988A1 HK16112335.1A HK16112335A HK1223988A1 HK 1223988 A1 HK1223988 A1 HK 1223988A1 HK 16112335 A HK16112335 A HK 16112335A HK 1223988 A1 HK1223988 A1 HK 1223988A1
Authority
HK
Hong Kong
Prior art keywords
copy number
number variations
sex chromosomes
determining copy
determining
Prior art date
Application number
HK16112335.1A
Other languages
English (en)
Inventor
Diana Abdueva
Original Assignee
Verinata Health Inc
Priority date (The priority date is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the date listed.)
Filing date
Publication date
Application filed by Verinata Health Inc filed Critical Verinata Health Inc
Publication of HK1223988A1 publication Critical patent/HK1223988A1/zh

Links

Classifications

    • 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

Landscapes

  • Life Sciences & Earth Sciences (AREA)
  • Physics & Mathematics (AREA)
  • Chemical & Material Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Analytical Chemistry (AREA)
  • General Health & Medical Sciences (AREA)
  • Biophysics (AREA)
  • Biotechnology (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Medical Informatics (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Theoretical Computer Science (AREA)
  • Evolutionary Biology (AREA)
  • Organic Chemistry (AREA)
  • Genetics & Genomics (AREA)
  • Molecular Biology (AREA)
  • Wood Science & Technology (AREA)
  • Zoology (AREA)
  • Microbiology (AREA)
  • Biochemistry (AREA)
  • General Engineering & Computer Science (AREA)
  • Immunology (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Apparatus Associated With Microorganisms And Enzymes (AREA)
  • Pathology (AREA)
HK16112335.1A 2013-06-17 2016-10-26 用於確定性染色體中的拷貝數變異的方法 HK1223988A1 (zh)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
US201361836057P 2013-06-17 2013-06-17
PCT/US2014/042785 WO2014204991A1 (en) 2013-06-17 2014-06-17 Method for determining copy number variations in sex chromosomes

Publications (1)

Publication Number Publication Date
HK1223988A1 true HK1223988A1 (zh) 2017-08-11

Family

ID=51205579

Family Applications (1)

Application Number Title Priority Date Filing Date
HK16112335.1A HK1223988A1 (zh) 2013-06-17 2016-10-26 用於確定性染色體中的拷貝數變異的方法

Country Status (9)

Country Link
US (1) US20140371078A1 (zh)
EP (2) EP3011052B1 (zh)
JP (2) JP6521956B2 (zh)
CN (1) CN105722994B (zh)
AU (1) AU2014281635B2 (zh)
CA (1) CA2915626A1 (zh)
HK (1) HK1223988A1 (zh)
IL (1) IL242956B (zh)
WO (1) WO2014204991A1 (zh)

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US10095831B2 (en) 2016-02-03 2018-10-09 Verinata Health, Inc. Using cell-free DNA fragment size to determine copy number variations
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EP3497218B1 (en) * 2016-08-08 2022-03-16 Karius, Inc. Reduction of signal from contaminant nucleic acids
KR102416441B1 (ko) * 2016-09-22 2022-07-04 일루미나, 인코포레이티드 체세포 복제수 변이 검출
TWI603082B (zh) * 2016-09-30 2017-10-21 有勁生物科技股份有限公司 非侵入式胎兒性徵異常檢測系統及其方法與非侵入式胎兒性徵檢測系統及其方法
DK3541934T3 (en) * 2016-11-17 2024-06-10 Lgc Clinical Diagnostics Inc Methods for preparing dna reference material and controls
CN106845154B (zh) * 2016-12-29 2022-04-08 浙江安诺优达生物科技有限公司 一种用于ffpe样本拷贝数变异检测的装置
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
WO2019051812A1 (zh) * 2017-09-15 2019-03-21 深圳华大智造科技有限公司 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、***和计算机可读介质
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
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US11482303B2 (en) 2018-06-01 2022-10-25 Grail, Llc Convolutional neural network systems and methods for data classification
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
US11581062B2 (en) 2018-12-10 2023-02-14 Grail, Llc Systems and methods for classifying patients with respect to multiple cancer classes
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***
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***
CN116018646A (zh) * 2020-05-22 2023-04-25 阿克图尔公司 用于表征无细胞核酸片段的方法
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***
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
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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Also Published As

Publication number Publication date
US20140371078A1 (en) 2014-12-18
JP2019153332A (ja) 2019-09-12
EP3011052B1 (en) 2019-05-22
IL242956B (en) 2019-10-31
EP3011052A1 (en) 2016-04-27
AU2014281635B2 (en) 2020-05-28
JP7021148B2 (ja) 2022-02-16
WO2014204991A1 (en) 2014-12-24
EP3543354A1 (en) 2019-09-25
EP3543354B1 (en) 2022-01-19
AU2014281635A1 (en) 2016-02-11
CN105722994A (zh) 2016-06-29
CA2915626A1 (en) 2014-12-24
CN105722994B (zh) 2020-12-18
JP2016526380A (ja) 2016-09-05
JP6521956B2 (ja) 2019-05-29

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