JP6521956B2 - 性染色体におけるコピー数変異を判定するための方法 - Google Patents

性染色体におけるコピー数変異を判定するための方法 Download PDF

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JP6521956B2
JP6521956B2 JP2016521519A JP2016521519A JP6521956B2 JP 6521956 B2 JP6521956 B2 JP 6521956B2 JP 2016521519 A JP2016521519 A JP 2016521519A JP 2016521519 A JP2016521519 A JP 2016521519A JP 6521956 B2 JP6521956 B2 JP 6521956B2
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ダイアナ アブドゥエヴァ
ダイアナ アブドゥエヴァ
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ベリナタ ヘルス インコーポレイテッド
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    • GPHYSICS
    • G16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G16B20/10Ploidy or copy number detection
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    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING 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
    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6813Hybridisation assays
    • C12Q1/6827Hybridisation assays for detection of mutation or polymorphism
    • GPHYSICS
    • G16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G16B20/20Allele or variant detection, e.g. single nucleotide polymorphism [SNP] detection
    • GPHYSICS
    • G16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B30/00ICT specially adapted for sequence analysis involving nucleotides or amino acids
    • GPHYSICS
    • G16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B30/00ICT specially adapted for sequence analysis involving nucleotides or amino acids
    • G16B30/10Sequence alignment; Homology search
    • GPHYSICS
    • G16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B30/00ICT specially adapted for sequence analysis involving nucleotides or amino acids
    • G16B30/20Sequence assembly

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JP2016521519A 2013-06-17 2014-06-17 性染色体におけるコピー数変異を判定するための方法 Expired - Fee Related JP6521956B2 (ja)

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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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JP2016526380A JP2016526380A (ja) 2016-09-05
JP2016526380A5 JP2016526380A5 (enExample) 2017-07-27
JP6521956B2 true JP6521956B2 (ja) 2019-05-29

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US (1) US20140371078A1 (enExample)
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CN (1) CN105722994B (enExample)
AU (1) AU2014281635B2 (enExample)
CA (1) CA2915626A1 (enExample)
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Families Citing this family (35)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
KR102373647B1 (ko) * 2013-10-21 2022-03-11 베리나타 헬스, 인코포레이티드 사본수 변동을 결정함에 있어서 검출의 감수성을 향상시키기 위한 방법
US10318704B2 (en) 2014-05-30 2019-06-11 Verinata Health, Inc. Detecting fetal sub-chromosomal aneuploidies
EP3567120B1 (en) 2014-12-12 2020-08-19 Verinata Health, Inc. Using cell-free dna fragment size to determine copy number variations
WO2016109364A1 (en) * 2014-12-29 2016-07-07 Counsyl, Inc. Method for determining genotypes in regions of high homology
CA2985135A1 (en) * 2015-05-06 2016-11-10 Seracare Life Sciences, Inc. Liposomal preparations for non-invasive-prenatal or cancer screening
WO2017094941A1 (ko) * 2015-12-04 2017-06-08 주식회사 녹십자지놈 핵산의 혼합물을 포함하는 샘플에서 복제수 변이를 결정하는 방법
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
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
EP3541934B1 (en) * 2016-11-17 2024-04-10 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
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

Family Cites Families (15)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US7235358B2 (en) * 2001-06-08 2007-06-26 Expression Diagnostics, Inc. Methods and compositions for diagnosing and monitoring transplant rejection
CA2668818C (en) 2006-10-10 2018-06-26 Xenomics, Inc. Compositions, methods and kits for isolating nucleic acids from body fluids using anion exchange media
US8262900B2 (en) 2006-12-14 2012-09-11 Life Technologies Corporation Methods and apparatus for measuring analytes using large scale FET arrays
CN101889074A (zh) 2007-10-04 2010-11-17 哈尔西恩莫尔丘勒公司 采用电子显微镜对核酸聚合物测序
GB0811500D0 (en) * 2008-06-20 2008-07-30 Univ Cardiff Method of determining DNA copy number
WO2011050341A1 (en) * 2009-10-22 2011-04-28 National Center For Genome Resources Methods and systems for medical sequencing analysis
WO2011090556A1 (en) 2010-01-19 2011-07-28 Verinata Health, Inc. Methods for determining fraction of fetal nucleic acid in maternal samples
EP3006573B1 (en) 2010-01-19 2018-03-07 Verinata Health, Inc Methods for determining fraction of fetal nucleic acids in maternal samples
US9260745B2 (en) 2010-01-19 2016-02-16 Verinata Health, Inc. Detecting and classifying copy number variation
US20120046877A1 (en) * 2010-07-06 2012-02-23 Life Technologies Corporation Systems and methods to detect copy number variation
US20120034603A1 (en) * 2010-08-06 2012-02-09 Tandem Diagnostics, Inc. Ligation-based detection of genetic variants
JP6153874B2 (ja) * 2011-02-09 2017-06-28 ナテラ, インコーポレイテッド 非侵襲的出生前倍数性呼び出しのための方法
CN103003447B (zh) * 2011-07-26 2020-08-25 维里纳塔健康公司 用于确定样品中存在或不存在不同非整倍性的方法
US8688388B2 (en) * 2011-10-11 2014-04-01 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US9538439B2 (en) * 2013-05-10 2017-01-03 Qualcomm Incorporated Method and apparatus for estimating an achievable link throughput based on assistance information

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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
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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