IL242956B - A method for determining the number of copies of variations in sex chromosomes - Google Patents

A method for determining the number of copies of variations in sex chromosomes

Info

Publication number
IL242956B
IL242956B IL24295615A IL24295615A IL242956B IL 242956 B IL242956 B IL 242956B IL 24295615 A IL24295615 A IL 24295615A IL 24295615 A IL24295615 A IL 24295615A IL 242956 B IL242956 B IL 242956B
Authority
IL
Israel
Prior art keywords
copy number
number variations
sex chromosomes
determining copy
determining
Prior art date
Application number
IL24295615A
Other languages
English (en)
Hebrew (he)
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 IL242956B publication Critical patent/IL242956B/en

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)
IL24295615A 2013-06-17 2015-12-06 A method for determining the number of copies of variations in sex chromosomes IL242956B (en)

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
IL242956B true IL242956B (en) 2019-10-31

Family

ID=51205579

Family Applications (1)

Application Number Title Priority Date Filing Date
IL24295615A IL242956B (en) 2013-06-17 2015-12-06 A method for determining the number of copies of 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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EP3230469B1 (en) 2014-12-12 2019-04-03 Verinata Health, Inc. Using cell-free dna fragment size to determine copy number variations
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EP3408376B1 (en) 2016-01-31 2025-07-16 Hadasit Medical Research Services and Development Ltd. Autosomal-identical pluripotent stem cell populations having non-identical sex chromosomal composition and uses thereof
US10095831B2 (en) * 2016-02-03 2018-10-09 Verinata Health, Inc. Using cell-free DNA fragment size to determine copy number variations
EP4322168A3 (en) * 2016-07-06 2024-05-15 Guardant Health, Inc. Methods for fragmentome profiling of cell-free nucleic acids
EP3497218B1 (en) * 2016-08-08 2022-03-16 Karius, Inc. Reduction of signal from contaminant nucleic acids
RU2768718C2 (ru) * 2016-09-22 2022-03-24 Иллумина, Инк. Обнаружение соматического варьирования числа копий
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
ES2980292T3 (es) * 2016-11-17 2024-09-30 Lgc Clinical Diagnostics Inc Métodos para preparar material de referencia y controles de ADN
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、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
KR102667912B1 (ko) 2017-11-16 2024-05-21 일루미나, 인코포레이티드 미세부수체 불안정성을 결정하기 위한 시스템 및 방법
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
EP3801623A4 (en) 2018-06-01 2022-03-23 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
EP3939047B1 (en) * 2019-03-10 2025-09-17 Ultima Genomics, Inc. Methods and systems for sequence calling
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
EP4154255A4 (en) 2020-05-22 2024-07-17 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
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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
JP2019153332A (ja) 2019-09-12
JP2016526380A (ja) 2016-09-05
US20140371078A1 (en) 2014-12-18
AU2014281635B2 (en) 2020-05-28
EP3011052B1 (en) 2019-05-22
HK1223988A1 (en) 2017-08-11
EP3543354B1 (en) 2022-01-19
EP3543354A1 (en) 2019-09-25
WO2014204991A1 (en) 2014-12-24
CN105722994A (zh) 2016-06-29
AU2014281635A1 (en) 2016-02-11
JP7021148B2 (ja) 2022-02-16
CN105722994B (zh) 2020-12-18
CA2915626A1 (en) 2014-12-24
EP3011052A1 (en) 2016-04-27
JP6521956B2 (ja) 2019-05-29

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