AU2014281635B2 - Method for determining copy number variations in sex chromosomes - Google Patents

Method for determining copy number variations in sex chromosomes Download PDF

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Publication number
AU2014281635B2
AU2014281635B2 AU2014281635A AU2014281635A AU2014281635B2 AU 2014281635 B2 AU2014281635 B2 AU 2014281635B2 AU 2014281635 A AU2014281635 A AU 2014281635A AU 2014281635 A AU2014281635 A AU 2014281635A AU 2014281635 B2 AU2014281635 B2 AU 2014281635B2
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chromosome
sequence
sample
samples
sequencing
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AU2014281635A
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AU2014281635A1 (en
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Diana ABDUEVA
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Verinata Health Inc
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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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  • 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)
  • Biophysics (AREA)
  • Biotechnology (AREA)
  • General Health & Medical Sciences (AREA)
  • Evolutionary Biology (AREA)
  • Theoretical Computer Science (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Medical Informatics (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Organic Chemistry (AREA)
  • Genetics & Genomics (AREA)
  • Molecular Biology (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • General Engineering & Computer Science (AREA)
  • Microbiology (AREA)
  • Biochemistry (AREA)
  • Immunology (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Apparatus Associated With Microorganisms And Enzymes (AREA)
  • Pathology (AREA)
AU2014281635A 2013-06-17 2014-06-17 Method for determining copy number variations in sex chromosomes Ceased AU2014281635B2 (en)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
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

Publications (2)

Publication Number Publication Date
AU2014281635A1 AU2014281635A1 (en) 2016-02-11
AU2014281635B2 true AU2014281635B2 (en) 2020-05-28

Family

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Family Applications (1)

Application Number Title Priority Date Filing Date
AU2014281635A Ceased AU2014281635B2 (en) 2013-06-17 2014-06-17 Method for determining copy number variations in sex chromosomes

Country Status (8)

Country Link
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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US10318704B2 (en) 2014-05-30 2019-06-11 Verinata Health, Inc. Detecting fetal sub-chromosomal aneuploidies
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FI3408376T3 (fi) * 2016-01-31 2025-10-08 Hadasit Med Res Service Autosomisesti identtiset pluripotentit kantasolupopulaatiot, joilla on ei-identtinen sukupuolikromosomikoostumus, ja niiden käyttötarkoitukset
US10095831B2 (en) 2016-02-03 2018-10-09 Verinata Health, Inc. Using cell-free DNA fragment size to determine copy number variations
JP7448310B2 (ja) * 2016-07-06 2024-03-12 ガーダント ヘルス， インコーポレイテッド セルフリー核酸のフラグメントームプロファイリングのための方法
EP3497218B1 (en) * 2016-08-08 2022-03-16 Karius, Inc. Reduction of signal from contaminant nucleic acids
AU2017332381A1 (en) * 2016-09-22 2019-04-18 Illumina, Inc. Somatic copy number variation detection
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EP3541934B1 (en) * 2016-11-17 2024-04-10 LGC Clinical Diagnostics, Inc. Methods for preparing dna reference material and controls
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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
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
IL298458A (en) 2020-05-22 2023-01-01 Aqtual Inc Methods for characterizing cell-free nucleic acid fragments
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
JP7331325B1 (ja) 2022-08-30 2023-08-23 株式会社seeDNA ２種以上の検査を実施可能な遺伝学的解析方法
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
HK1223988A1 (en) 2017-08-11
CA2915626A1 (en) 2014-12-24
AU2014281635A1 (en) 2016-02-11
EP3011052B1 (en) 2019-05-22
CN105722994B (zh) 2020-12-18
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
WO2014204991A1 (en) 2014-12-24

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