CN106795558B - 检测胎儿亚染色体非整倍性和拷贝数变异 - Google Patents

检测胎儿亚染色体非整倍性和拷贝数变异 Download PDF

Info

Publication number
CN106795558B
CN106795558B CN201580041925.3A CN201580041925A CN106795558B CN 106795558 B CN106795558 B CN 106795558B CN 201580041925 A CN201580041925 A CN 201580041925A CN 106795558 B CN106795558 B CN 106795558B
Authority
CN
China
Prior art keywords
sequence
coverage
bins
interest
sample
Prior art date
Legal status (The legal status 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 status listed.)
Expired - Fee Related
Application number
CN201580041925.3A
Other languages
English (en)
Chinese (zh)
Other versions
CN106795558A (zh
Inventor
D·I·楚多瓦
D·阿卜杜瓦
Current Assignee (The listed assignees may be inaccurate. Google has not performed a legal analysis and makes no representation or warranty as to the accuracy of the list.)
Verinata Health Inc
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 CN106795558A publication Critical patent/CN106795558A/zh
Application granted granted Critical
Publication of CN106795558B publication Critical patent/CN106795558B/zh
Expired - Fee Related legal-status Critical Current
Anticipated expiration legal-status Critical

Links

Images

Classifications

    • 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
    • C12Q1/6844—Nucleic acid amplification reactions
    • C12Q1/6858—Allele-specific amplification
    • 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
    • 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
    • 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
    • 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
    • C12Q1/6869—Methods for sequencing
    • 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
    • C12Q2535/00—Reactions characterised by the assay type for determining the identity of a nucleotide base or a sequence of oligonucleotides
    • C12Q2535/122—Massive parallel sequencing
    • 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
    • C12Q2537/00—Reactions characterised by the reaction format or use of a specific feature
    • C12Q2537/10—Reactions characterised by the reaction format or use of a specific feature the purpose or use of
    • C12Q2537/16—Assays for determining copy number or wherein the copy number is of special importance
    • 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
    • C12Q2537/00—Reactions characterised by the reaction format or use of a specific feature
    • C12Q2537/10—Reactions characterised by the reaction format or use of a specific feature the purpose or use of
    • C12Q2537/165—Mathematical modelling, e.g. logarithm, ratio

Landscapes

  • Life Sciences & Earth Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • Physics & Mathematics (AREA)
  • Engineering & Computer Science (AREA)
  • Health & Medical Sciences (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • General Health & Medical Sciences (AREA)
  • Biotechnology (AREA)
  • Analytical Chemistry (AREA)
  • Biophysics (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Organic Chemistry (AREA)
  • Evolutionary Biology (AREA)
  • Medical Informatics (AREA)
  • Theoretical Computer Science (AREA)
  • Molecular Biology (AREA)
  • Genetics & Genomics (AREA)
  • Wood Science & Technology (AREA)
  • Zoology (AREA)
  • General Engineering & Computer Science (AREA)
  • Biochemistry (AREA)
  • Microbiology (AREA)
  • Immunology (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Apparatus Associated With Microorganisms And Enzymes (AREA)
  • Measurement And Recording Of Electrical Phenomena And Electrical Characteristics Of The Living Body (AREA)
  • Ultra Sonic Daignosis Equipment (AREA)
  • Algebra (AREA)
  • General Physics & Mathematics (AREA)
  • Mathematical Analysis (AREA)
  • Mathematical Optimization (AREA)
  • Mathematical Physics (AREA)
  • Pure & Applied Mathematics (AREA)
CN201580041925.3A 2014-05-30 2015-05-29 检测胎儿亚染色体非整倍性和拷贝数变异 Expired - Fee Related CN106795558B (zh)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US201462005877P 2014-05-30 2014-05-30
US62/005,877 2014-05-30
PCT/US2015/033403 WO2015184404A1 (en) 2014-05-30 2015-05-29 Detecting fetal sub-chromosomal aneuploidies and copy number variations

Publications (2)

Publication Number Publication Date
CN106795558A CN106795558A (zh) 2017-05-31
CN106795558B true CN106795558B (zh) 2020-07-10

Family

ID=53373661

Family Applications (1)

Application Number Title Priority Date Filing Date
CN201580041925.3A Expired - Fee Related CN106795558B (zh) 2014-05-30 2015-05-29 检测胎儿亚染色体非整倍性和拷贝数变异

Country Status (10)

Country Link
US (2) US10318704B2 (enExample)
EP (2) EP3690061B1 (enExample)
JP (1) JP6659672B2 (enExample)
KR (1) KR102566176B1 (enExample)
CN (1) CN106795558B (enExample)
AU (1) AU2015266665C1 (enExample)
BR (1) BR112016027848A2 (enExample)
CA (1) CA2950596C (enExample)
IL (1) IL249095B2 (enExample)
WO (1) WO2015184404A1 (enExample)

Families Citing this family (44)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
GB2484764B (en) 2011-04-14 2012-09-05 Verinata Health Inc Normalizing chromosomes for the determination and verification of common and rare chromosomal aneuploidies
US9892230B2 (en) 2012-03-08 2018-02-13 The Chinese University Of Hong Kong Size-based analysis of fetal or tumor DNA fraction in plasma
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
WO2016015058A2 (en) * 2014-07-25 2016-01-28 University Of Washington Methods of determining tissues and/or cell types giving rise to cell-free dna, and methods of identifying a disease or disorder using same
EP3567120B1 (en) * 2014-12-12 2020-08-19 Verinata Health, Inc. Using cell-free dna fragment size to determine copy number variations
US10364467B2 (en) * 2015-01-13 2019-07-30 The Chinese University Of Hong Kong Using size and number aberrations in plasma DNA for detecting cancer
US10395759B2 (en) 2015-05-18 2019-08-27 Regeneron Pharmaceuticals, Inc. Methods and systems for copy number variant detection
BE1023266B1 (nl) * 2015-07-13 2017-01-17 Cartagenia N.V. Systeem en methodologie voor de analyse van genomische gegevens die zijn verkregen van een onderwerp
AU2016321204B2 (en) 2015-09-08 2022-12-01 Cold Spring Harbor Laboratory Genetic copy number determination using high throughput multiplex sequencing of smashed nucleotides
CA3008651A1 (en) 2015-12-17 2017-06-22 Guardant Health, Inc. Methods to determine tumor gene copy number by analysis of cell-free dna
US10095831B2 (en) 2016-02-03 2018-10-09 Verinata Health, Inc. Using cell-free DNA fragment size to determine copy number variations
JP2019511070A (ja) * 2016-02-09 2019-04-18 トマ・バイオサイエンシズ，インコーポレーテッド 核酸を解析するシステムおよび方法
US12071669B2 (en) * 2016-02-12 2024-08-27 Regeneron Pharmaceuticals, Inc. Methods and systems for detection of abnormal karyotypes
US20190287645A1 (en) * 2016-07-06 2019-09-19 Guardant Health, Inc. Methods for fragmentome profiling of cell-free nucleic acids
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
AU2017332381A1 (en) * 2016-09-22 2019-04-18 Illumina, Inc. Somatic copy number variation detection
US11342047B2 (en) 2017-04-21 2022-05-24 Illumina, Inc. Using cell-free DNA fragment size to detect tumor-associated variant
EP3635133A4 (en) * 2017-06-09 2021-03-03 Bellwether Bio, Inc. DETERMINATION OF THE TYPE OF CANCER IN A SUBJECT BY PROBABILISTIC MODELING OF END POINTS OF CIRCULATING NUCLEIC ACID FRAGMENT
EP3635134A4 (en) * 2017-06-09 2021-03-03 Bellwether Bio, Inc. DIAGNOSTIC CANCER OR OTHER PHYSIOLOGICAL CONDITIONS USING CIRCULATING NUCLEIC ACID FRAGMENT SENTINEL END POINTS
CN111095422A (zh) * 2017-06-19 2020-05-01 琼格拉有限责任公司 通过综合计算和实验深度突变学习框架解释基因和基因组变体
WO2019034576A1 (en) * 2017-08-18 2019-02-21 Koninklijke Philips N.V. METHODS OF SEQUENCING BIOMOLECULES
US12499972B2 (en) 2017-09-01 2025-12-16 Grail, Inc. Identifying false positive variants using a significance model
US12020779B1 (en) * 2017-09-06 2024-06-25 Myriad Women's Health, Inc. Noninvasive prenatal screening using dynamic iterative depth optimization with depth-scaled variance determination
CN108733982B (zh) * 2017-09-26 2021-02-19 上海凡迪基因科技有限公司 孕妇nipt结果校正方法、装置及计算机可读存储介质、设备
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
US11728007B2 (en) * 2017-11-30 2023-08-15 Grail, Llc Methods and systems for analyzing nucleic acid sequences using mappability analysis and de novo sequence assembly
US12154661B2 (en) 2018-03-22 2024-11-26 The Regents Of The University Of Michigan Method and apparatus for analysis of chromatin interaction data
WO2019209884A1 (en) * 2018-04-23 2019-10-31 Grail, Inc. Methods and systems for screening for conditions
EP3795692A4 (en) * 2018-05-07 2021-07-21 GeneMind Biosciences Company Limited METHOD, DEVICE AND SYSTEM FOR DETECTION OF CHROMOSOMAL ANEUPLOIDY
CN109030801B (zh) * 2018-06-02 2021-08-20 宏葵生物（中国）股份有限公司 一种临床样本自动生化分析仪
CN109117703B (zh) * 2018-06-13 2022-03-22 中山大学中山眼科中心 一种基于细粒度识别的混杂细胞种类鉴定方法
DE102018219483A1 (de) * 2018-11-15 2020-05-20 Robert Bosch Gmbh Verfahren und Vorrichtung zur Analyse von biologischem Material
KR102287096B1 (ko) * 2019-01-04 2021-08-09 테라젠지놈케어 주식회사 모체 시료 중 태아 분획을 결정하는 방법
WO2020150258A1 (en) * 2019-01-15 2020-07-23 Luminist, Inc. Methods and systems for detecting liver disease
EP3987525A1 (en) * 2019-06-21 2022-04-27 CooperSurgical, Inc. System and method for determining genetic relationships between a sperm provider, oocyte provider, and the respective conceptus
WO2021097307A1 (en) * 2019-11-14 2021-05-20 Bio-Rad Laboratories, Inc. Partition-based determination of target copy number for single cells by non-endpoint amplification
US12252745B2 (en) 2021-09-02 2025-03-18 Enumerix, Inc. Detection and digital quantitation of multiple targets
US20240185955A1 (en) * 2021-11-23 2024-06-06 Chromatintech Beijing Co, Ltd Method for generating an enhanced hi-c matrix, non-transitory computer readable medium storing a program for generating an enhanced hi-c matrix, method for identifying a structural chromatin aberration in an enhanced hi-c matrix, and methods for diagnosing and treating a medical condition or disease
WO2023129936A1 (en) * 2021-12-29 2023-07-06 AiOnco, Inc. System and method for text-based biological information processing with analysis refinement
US11947551B2 (en) * 2022-05-27 2024-04-02 Maplebear Inc. Automated sampling of query results for training of a query engine
US20240209419A1 (en) * 2022-12-14 2024-06-27 Illumina, Inc. Systems and Methods for Capture and Enrichment of Clustered Beads on Flow Cell Substrates
CN116825189A (zh) * 2023-06-29 2023-09-29 赛纳生物科技(北京)有限公司 一种2+2测序的信号校正方法
CN117331850B (zh) * 2023-12-01 2024-03-15 云筑信息科技(成都)有限公司 一种将功能测试和接口自动化测试结合的测试方法

Citations (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN103003447A (zh) * 2011-07-26 2013-03-27 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
CN103374518A (zh) * 2012-04-12 2013-10-30 维里纳塔健康公司 拷贝数变异的检测和分类

Family Cites Families (41)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US20100216153A1 (en) 2004-02-27 2010-08-26 Helicos Biosciences Corporation Methods for detecting fetal nucleic acids and diagnosing fetal abnormalities
EP1910537A1 (en) 2005-06-06 2008-04-16 454 Life Sciences Corporation Paired end sequencing
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
US9218449B2 (en) 2007-07-23 2015-12-22 The Chinese University Of Hong Kong Methods for analyzing massively parallel sequencing data for noninvasive prenatal diagnosis
CN106886688B (zh) 2007-07-23 2020-07-10 香港中文大学 用于分析癌症相关的遗传变异的系统
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
WO2009051842A2 (en) 2007-10-18 2009-04-23 The Johns Hopkins University Detection of cancer by measuring genomic copy number and strand length in cell-free dna
ES2620012T3 (es) 2008-09-20 2017-06-27 The Board Of Trustees Of The Leland Stanford Junior University Diagnóstico no invasivo de la aneuploidia fetal por secuenciación
AU2010317019B2 (en) 2009-11-06 2014-10-30 The Chinese University Of Hong Kong Size-based genomic analysis
US9260745B2 (en) 2010-01-19 2016-02-16 Verinata Health, Inc. Detecting and classifying copy number variation
US8700341B2 (en) 2010-01-19 2014-04-15 Verinata Health, Inc. Partition defined detection methods
US9323888B2 (en) 2010-01-19 2016-04-26 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
US9029103B2 (en) 2010-08-27 2015-05-12 Illumina Cambridge Limited Methods for sequencing polynucleotides
US8725422B2 (en) 2010-10-13 2014-05-13 Complete Genomics, Inc. Methods for estimating genome-wide copy number variations
EP4269623A3 (en) 2010-11-30 2024-03-06 The Chinese University Of Hong Kong Analysis of a biological sample of an organism for chromosomal deletions or amplifications associated with cancer
US9411937B2 (en) 2011-04-15 2016-08-09 Verinata Health, Inc. Detecting and classifying copy number variation
WO2014014498A1 (en) 2012-07-20 2014-01-23 Verinata Health, Inc. Detecting and classifying copy number variation in a fetal genome
US9885080B2 (en) 2011-05-31 2018-02-06 Berry Genomics Co., Ltd. Kit, a device and a method for detecting copy number of fetal chromosomes or tumor cell chromosomes
CA2791118C (en) * 2011-06-29 2019-05-07 Furnan Jiang Noninvasive detection of fetal genetic abnormality
US9367663B2 (en) 2011-10-06 2016-06-14 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
AU2012318371B2 (en) 2011-10-06 2018-03-22 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
WO2013097062A1 (zh) * 2011-12-31 2013-07-04 深圳华大基因健康科技有限公司 一种遗传变异检测方法
HUE059847T2 (hu) * 2012-01-20 2023-01-28 Sequenom Inc Kísérleti körülményeket fakturáló diagnosztikai folyamatok
US9892230B2 (en) 2012-03-08 2018-02-13 The Chinese University Of Hong Kong Size-based analysis of fetal or tumor DNA fraction in plasma
US9920361B2 (en) 2012-05-21 2018-03-20 Sequenom, Inc. Methods and compositions for analyzing nucleic acid
US10504613B2 (en) 2012-12-20 2019-12-10 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US20140066317A1 (en) 2012-09-04 2014-03-06 Guardant Health, Inc. Systems and methods to detect rare mutations and copy number variation
ES2769241T5 (es) 2012-09-04 2023-05-30 Guardant Health Inc Sistemas y métodos para detectar variación en el número de copias
CA2922005A1 (en) 2012-09-27 2014-04-03 Population Diagnostics, Inc. Methods and compositions for screening and treating developmental disorders
CN114574581A (zh) * 2013-03-15 2022-06-03 夸登特健康公司 检测稀有突变和拷贝数变异的系统和方法
CA2915626A1 (en) 2013-06-17 2014-12-24 Verinata Health, Inc. Method for determining copy number variations in sex chromosomes
DK3011051T3 (en) 2013-06-21 2019-04-23 Sequenom Inc Method for non-invasive evaluation of genetic variations
KR102373647B1 (ko) * 2013-10-21 2022-03-11 베리나타 헬스, 인코포레이티드 사본수 변동을 결정함에 있어서 검출의 감수성을 향상시키기 위한 방법
US10415083B2 (en) 2013-10-28 2019-09-17 The Translational Genomics Research Institute Long insert-based whole genome sequencing
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
WO2016134452A1 (en) 2015-02-26 2016-09-01 Titan Medical Inc. Method and apparatus for providing access for a surgical procedure
US10095831B2 (en) 2016-02-03 2018-10-09 Verinata Health, Inc. Using cell-free DNA fragment size to determine copy number variations
US11342047B2 (en) 2017-04-21 2022-05-24 Illumina, Inc. Using cell-free DNA fragment size to detect tumor-associated variant

Patent Citations (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN103003447A (zh) * 2011-07-26 2013-03-27 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
CN103374518A (zh) * 2012-04-12 2013-10-30 维里纳塔健康公司 拷贝数变异的检测和分类

Non-Patent Citations (1)

* Cited by examiner, † Cited by third party
Title
Detection of Microdeletion 22q11.2 in a Fetus by Next-Generation Sequencing of Maternal Plasma;Jensen Taylor J，et al;《Clinical Chemistry》;20120701;第58卷(第7期);全文 *

Also Published As

Publication number Publication date
AU2015266665B2 (en) 2021-08-19
EP3149199A1 (en) 2017-04-05
IL249095B2 (en) 2023-10-01
BR112016027848A2 (pt) 2017-08-22
US12217827B2 (en) 2025-02-04
KR20170016393A (ko) 2017-02-13
WO2015184404A1 (en) 2015-12-03
IL249095A0 (en) 2017-01-31
EP3149199B1 (en) 2020-03-25
CN106795558A (zh) 2017-05-31
EP3690061B1 (en) 2025-01-01
EP3690061A1 (en) 2020-08-05
US20160019338A1 (en) 2016-01-21
JP6659672B2 (ja) 2020-03-04
AU2015266665A1 (en) 2016-12-22
JP2017524374A (ja) 2017-08-31
CA2950596A1 (en) 2015-12-03
AU2015266665C1 (en) 2021-12-23
IL249095B1 (en) 2023-06-01
US20190318805A1 (en) 2019-10-17
KR102566176B1 (ko) 2023-08-10
US10318704B2 (en) 2019-06-11
CA2950596C (en) 2023-10-31

Similar Documents

Publication Publication Date Title
CN106795558B (zh) 检测胎儿亚染色体非整倍性和拷贝数变异
AU2020200728B2 (en) Method for improving the sensitivity of detection in determining copy number variations
JP6521956B2 (ja) 性染色体におけるコピー数変異を判定するための方法
HK40098511A (en) Method for improving the sensitivity of detection in determining copy number variations
HK40033718A (en) Detecting, optionally fetal, sub-chromosomal aneuploidies and copy number variations
HK1235436A1 (en) Detecting, optionally fetal, sub-chromosomal aneuploidies and copy number variations
HK1235436B (en) Detecting, optionally fetal, sub-chromosomal aneuploidies and copy number variations
HK1228052A1 (en) Method for improving the sensitivity of detection in determining copy number variations
HK1228052B (en) Method for improving the sensitivity of detection in determining copy number variations

Legal Events

Date Code Title Description
PB01 Publication
PB01 Publication
SE01 Entry into force of request for substantive examination
SE01 Entry into force of request for substantive examination
GR01 Patent grant
GR01 Patent grant
CF01 Termination of patent right due to non-payment of annual fee
CF01 Termination of patent right due to non-payment of annual fee

Granted publication date: 20200710