AU2015266665C1 - Detecting fetal sub-chromosomal aneuploidies and copy number variations - Google Patents

Detecting fetal sub-chromosomal aneuploidies and copy number variations Download PDF

Info

Publication number
AU2015266665C1
AU2015266665C1 AU2015266665A AU2015266665A AU2015266665C1 AU 2015266665 C1 AU2015266665 C1 AU 2015266665C1 AU 2015266665 A AU2015266665 A AU 2015266665A AU 2015266665 A AU2015266665 A AU 2015266665A AU 2015266665 C1 AU2015266665 C1 AU 2015266665C1
Authority
AU
Australia
Prior art keywords
sequence
interest
samples
chromosome
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.)
Ceased
Application number
AU2015266665A
Other languages
English (en)
Other versions
AU2015266665A1 (en
AU2015266665B2 (en
Inventor
Diana ABDUEVA
Darya I. Chudova
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 AU2015266665A1 publication Critical patent/AU2015266665A1/en
Publication of AU2015266665B2 publication Critical patent/AU2015266665B2/en
Application granted granted Critical
Publication of AU2015266665C1 publication Critical patent/AU2015266665C1/en
Ceased legal-status Critical Current
Anticipated expiration legal-status Critical

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
    • G16B30/00—ICT specially adapted for sequence analysis involving nucleotides or amino acids
    • 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
    • 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
    • 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
    • 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
    • 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)
  • Theoretical Computer Science (AREA)
  • Evolutionary Biology (AREA)
  • Medical Informatics (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Organic Chemistry (AREA)
  • Genetics & Genomics (AREA)
  • Molecular Biology (AREA)
  • Wood Science & Technology (AREA)
  • Zoology (AREA)
  • General Engineering & Computer Science (AREA)
  • Immunology (AREA)
  • Microbiology (AREA)
  • Biochemistry (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)
AU2015266665A 2014-05-30 2015-05-29 Detecting fetal sub-chromosomal aneuploidies and copy number variations Ceased AU2015266665C1 (en)

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 (3)

Publication Number Publication Date
AU2015266665A1 AU2015266665A1 (en) 2016-12-22
AU2015266665B2 AU2015266665B2 (en) 2021-08-19
AU2015266665C1 true AU2015266665C1 (en) 2021-12-23

Family

ID=53373661

Family Applications (1)

Application Number Title Priority Date Filing Date
AU2015266665A Ceased AU2015266665C1 (en) 2014-05-30 2015-05-29 Detecting fetal sub-chromosomal aneuploidies and copy number variations

Country Status (10)

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

Families Citing this family (47)

* 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
CN105830077B (zh) 2013-10-21 2019-07-09 维里纳塔健康公司 用于在确定拷贝数变异中改善检测的灵敏度的方法
EP3690061B1 (en) 2014-05-30 2025-01-01 Verinata Health, Inc. Detecting, optionally fetal, sub-chromosomal aneuploidies and copy number variations
EP4358097A1 (en) * 2014-07-25 2024-04-24 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
EP3502273B1 (en) * 2014-12-12 2020-07-08 Verinata Health, Inc. Cell-free dna fragment
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
WO2017044609A1 (en) 2015-09-08 2017-03-16 Cold Spring Harbor Laboratory Genetic copy number determination using high throughput multiplex sequencing of smashed nucleotides
SG11201805119QA (en) * 2015-12-17 2018-07-30 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
US20190050530A1 (en) * 2016-02-09 2019-02-14 Toma Biosciences, Inc. Systems and Methods for Analyzing Nucleic Acids
US12071669B2 (en) * 2016-02-12 2024-08-27 Regeneron Pharmaceuticals, Inc. Methods and systems for detection of abnormal karyotypes
WO2018009723A1 (en) * 2016-07-06 2018-01-11 Guardant Health, Inc. Methods for fragmentome profiling of cell-free nucleic acids
US20190287645A1 (en) * 2016-07-06 2019-09-19 Guardant Health, Inc. Methods for fragmentome profiling of cell-free nucleic acids
JP6839268B2 (ja) * 2016-09-22 2021-03-03 イルミナ インコーポレイテッド 体細胞コピー数多型検出
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 CANCER TYPE IN A PERSON BY PROBABILISTIC MODELING OF CIRCULATING NUCLEIC ACID FRAGMENT END POINTS
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
AU2018289410B2 (en) * 2017-06-19 2024-06-13 Invitae Corporation Interpretation of genetic and genomic variants via an integrated computational and experimental deep mutational learning framework
US20200394491A1 (en) * 2017-08-18 2020-12-17 Koninklijke Philips N.V. Methods for 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
NZ759171A (en) 2017-11-16 2022-05-27 Illumina Inc Systems and methods for determining microsatellite instability
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
US12590326B2 (en) 2018-01-10 2026-03-31 Guardant Health, Inc. Methods for fragmentome profiling of cell-free nucleic acids
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
US11455570B2 (en) * 2019-01-15 2022-09-27 Ebay Inc. Machine learning-based infrastructure anomaly and incident detection using multi-dimensional machine metrics
US12205674B2 (en) 2019-06-21 2025-01-21 Coopersurgical, Inc. System and method for determining genetic relationships between a sperm provider, oocyte provider, and the respective conceptus
AU2020369151A1 (en) * 2019-10-22 2022-06-09 Genembryomics Pty. Ltd. Method for screening IVF embryos
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
WO2023092303A1 (en) * 2021-11-23 2023-06-01 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
US11935627B2 (en) * 2021-12-29 2024-03-19 Mujin, 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
EP4634400A1 (en) * 2022-12-14 2025-10-22 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 (5)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2013015793A1 (en) * 2011-07-26 2013-01-31 Verinata Health, Inc. Method for determining the presence or absence of different aneuploidies in a sample
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
WO2014015319A1 (en) * 2012-07-20 2014-01-23 Verinata Health, Inc. System for determining a copy number variation
WO2014039556A1 (en) * 2012-09-04 2014-03-13 Guardant Health, Inc. Systems and methods to detect rare mutations and copy number variation
WO2015061359A1 (en) * 2013-10-21 2015-04-30 Verinata Health, Inc. Method for improving the sensitivity of detection in determining copy number variations

Family Cites Families (38)

* 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
CA2615323A1 (en) 2005-06-06 2007-12-21 454 Life Sciences Corporation Paired end sequencing
US9163229B2 (en) 2006-10-10 2015-10-20 Trovagene, 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
PL2557520T3 (pl) 2007-07-23 2021-10-11 The Chinese University Of Hong Kong Określanie zaburzenia równowagi sekwencji kwasu nukleinowego
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
CA3069082C (en) 2008-09-20 2022-03-22 The Board Of Trustees Of The Leland Stanford Junior University Noninvasive diagnosis of fetal aneuploidy by sequencing
CA2780016C (en) 2009-11-06 2017-09-19 The Chinese University Of Hong Kong Size-based genomic analysis
WO2011091063A1 (en) 2010-01-19 2011-07-28 Verinata Health, Inc. Partition defined detection methods
US9260745B2 (en) * 2010-01-19 2016-02-16 Verinata Health, Inc. Detecting and classifying copy number variation
US9323888B2 (en) 2010-01-19 2016-04-26 Verinata Health, Inc. Detecting and classifying copy number variation
EP2591433A4 (en) 2010-07-06 2017-05-17 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
CN105243295B (zh) 2010-11-30 2018-08-17 香港中文大学 与癌症相关的遗传或分子畸变的检测
WO2014014498A1 (en) 2012-07-20 2014-01-23 Verinata Health, Inc. Detecting and classifying copy number variation in a fetal genome
ES2605372T3 (es) 2011-05-31 2017-03-14 Berry Genomics Co., Ltd. Un dispositivo para detectar el número de copias de cromosomas fetales o cromosomas de células tumorales
PL2561103T3 (pl) 2011-06-29 2015-02-27 Bgi Diagnosis Co Ltd Nieinwazyjna detekcja anomalii genetycznych płodu
JP6073902B2 (ja) 2011-10-06 2017-02-01 セクエノム， インコーポレイテッド 遺伝的変異の非侵襲的評価のための方法およびプロセス
US9367663B2 (en) 2011-10-06 2016-06-14 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
CA2861856C (en) 2012-01-20 2020-06-02 Sequenom, Inc. Diagnostic processes that factor experimental conditions
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
CA2866324C (en) 2012-03-13 2019-01-15 The Chinese University Of Hong Kong Methods for analyzing massively parallel sequencing data for noninvasive prenatal diagnosis
CN204440396U (zh) * 2012-04-12 2015-07-01 维里纳塔健康公司 用于确定胎儿分数的试剂盒
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
WO2014052855A1 (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
WO2014204991A1 (en) 2013-06-17 2014-12-24 Verinata Health, Inc. Method for determining copy number variations in sex chromosomes
ES3037160T3 (en) 2013-06-21 2025-09-29 Sequenom Inc Methods and processes for non-invasive assessment of genetic variations
US10415083B2 (en) 2013-10-28 2019-09-17 The Translational Genomics Research Institute Long insert-based whole genome sequencing
EP3690061B1 (en) 2014-05-30 2025-01-01 Verinata Health, Inc. Detecting, optionally fetal, sub-chromosomal aneuploidies and copy number variations
EP3502273B1 (en) 2014-12-12 2020-07-08 Verinata Health, Inc. Cell-free dna fragment
US10368909B2 (en) 2015-02-26 2019-08-06 Titan Medical Inc. 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 (5)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2013015793A1 (en) * 2011-07-26 2013-01-31 Verinata Health, Inc. Method for determining the presence or absence of different aneuploidies in a sample
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
WO2014015319A1 (en) * 2012-07-20 2014-01-23 Verinata Health, Inc. System for determining a copy number variation
WO2014039556A1 (en) * 2012-09-04 2014-03-13 Guardant Health, Inc. Systems and methods to detect rare mutations and copy number variation
WO2015061359A1 (en) * 2013-10-21 2015-04-30 Verinata Health, Inc. Method for improving the sensitivity of detection in determining copy number variations

Non-Patent Citations (2)

* Cited by examiner, † Cited by third party
Title
A. MAGI ET AL, "Read count approach for DNA copy number variants detection", BIOINFORMATICS, (2011-12-23), vol. 28, no. 4, doi:10.1093/bioinformatics/btr707, ISSN 1367-4803, pages 470 - 478 *
T. J. JENSEN ET AL, "Detection of Microdeletion 22q11.2 in a Fetus by Next-Generation Sequencing of Maternal Plasma", CLINICAL CHEMISTRY, (2012-07-01), vol. 58, no. 7, doi:10.1373/clinchem.2011.180794, ISSN 0009-9147, pages 1148 - 1151 *

Also Published As

Publication number Publication date
WO2015184404A1 (en) 2015-12-03
CA2950596C (en) 2023-10-31
IL249095B2 (en) 2023-10-01
AU2015266665A1 (en) 2016-12-22
BR112016027848A2 (pt) 2017-08-22
CN106795558B (zh) 2020-07-10
EP3690061B1 (en) 2025-01-01
IL249095A0 (en) 2017-01-31
EP3690061A1 (en) 2020-08-05
JP6659672B2 (ja) 2020-03-04
CN106795558A (zh) 2017-05-31
US12217827B2 (en) 2025-02-04
AU2015266665B2 (en) 2021-08-19
IL249095B1 (en) 2023-06-01
US20160019338A1 (en) 2016-01-21
US20190318805A1 (en) 2019-10-17
EP3149199A1 (en) 2017-04-05
JP2017524374A (ja) 2017-08-31
KR20170016393A (ko) 2017-02-13
CA2950596A1 (en) 2015-12-03
EP3149199B1 (en) 2020-03-25
KR102566176B1 (ko) 2023-08-10
US10318704B2 (en) 2019-06-11

Similar Documents

Publication Publication Date Title
US12217827B2 (en) Detecting fetal sub-chromosomal aneuploidies
AU2020200728B2 (en) Method for improving the sensitivity of detection in determining copy number variations
EP3011052B1 (en) Method for determining copy number variations in sex chromosomes
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
HK1228052B (en) Method for improving the sensitivity of detection in determining copy number variations
HK1228052A1 (en) Method for improving the sensitivity of detection in determining copy number variations
HK40013205B (en) Method for generating a masked reference sequence of the y chromosome
HK40013205A (en) Method for generating a masked reference sequence of the y chromosome
HK1223988B (en) Method for determining copy number variations in sex chromosomes

Legal Events

Date Code Title Description
DA2 Applications for amendment section 104

Free format text: THE NATURE OF THE AMENDMENT IS AS SHOWN IN THE STATEMENT(S) FILED 09 SEP 2021

DA3 Amendments made section 104

Free format text: THE NATURE OF THE AMENDMENT IS AS SHOWN IN THE STATEMENT FILED 09 SEP 2021

FGA Letters patent sealed or granted (standard patent)
MK14 Patent ceased section 143(a) (annual fees not paid) or expired