AU2011373694A1 - Method for determining the presence or absence of different aneuploidies in a sample - Google Patents

Method for determining the presence or absence of different aneuploidies in a sample Download PDF

Info

Publication number
AU2011373694A1
AU2011373694A1 AU2011373694A AU2011373694A AU2011373694A1 AU 2011373694 A1 AU2011373694 A1 AU 2011373694A1 AU 2011373694 A AU2011373694 A AU 2011373694A AU 2011373694 A AU2011373694 A AU 2011373694A AU 2011373694 A1 AU2011373694 A1 AU 2011373694A1
Authority
AU
Australia
Prior art keywords
chromosome
chromosomes
sequence
interest
normalizing
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.)
Abandoned
Application number
AU2011373694A
Other languages
English (en)
Inventor
David A. COMSTOCK
Richard P. Rava
Brian K. Rhees
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 AU2011373694A1 publication Critical patent/AU2011373694A1/en
Abandoned legal-status Critical Current

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
    • G16B5/00—ICT specially adapted for modelling or simulations in systems biology, e.g. gene-regulatory networks, protein interaction networks or metabolic networks
    • 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
    • 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
    • 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
    • C12Q1/6806—Preparing nucleic acids for analysis, e.g. for polymerase chain reaction [PCR] assay
    • 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
    • C12Q1/6872—Methods for sequencing involving mass spectrometry
    • 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
    • G16B10/00—ICT specially adapted for evolutionary bioinformatics, e.g. phylogenetic tree construction or analysis
    • 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
    • G16B15/00—ICT specially adapted for analysing two-dimensional or three-dimensional molecular structures, e.g. structural or functional relations or structure alignment
    • 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
    • G16B25/00—ICT specially adapted for hybridisation; ICT specially adapted for gene or protein expression
    • 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
    • G16B40/00—ICT specially adapted for biostatistics; ICT specially adapted for bioinformatics-related machine learning or data mining, e.g. knowledge discovery or pattern finding
    • 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
    • G16B45/00—ICT specially adapted for bioinformatics-related data visualisation, e.g. displaying of maps or networks
    • 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
    • G16B50/00—ICT programming tools or database systems specially adapted for bioinformatics
    • 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
    • G16B99/00—Subject matter not provided for in other groups of this subclass
    • 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
    • C12Q1/6876—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6883—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material

Landscapes

  • Life Sciences & Earth Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Physics & Mathematics (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Organic Chemistry (AREA)
  • General Health & Medical Sciences (AREA)
  • Biotechnology (AREA)
  • Biophysics (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Medical Informatics (AREA)
  • Wood Science & Technology (AREA)
  • Zoology (AREA)
  • Theoretical Computer Science (AREA)
  • Evolutionary Biology (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Analytical Chemistry (AREA)
  • Genetics & Genomics (AREA)
  • Molecular Biology (AREA)
  • Biochemistry (AREA)
  • General Engineering & Computer Science (AREA)
  • Microbiology (AREA)
  • Immunology (AREA)
  • Physiology (AREA)
  • Databases & Information Systems (AREA)
  • Data Mining & Analysis (AREA)
  • Bioethics (AREA)
  • Pathology (AREA)
  • Computer Vision & Pattern Recognition (AREA)
  • Artificial Intelligence (AREA)
  • Crystallography & Structural Chemistry (AREA)
  • Epidemiology (AREA)
  • Evolutionary Computation (AREA)
  • Public Health (AREA)
  • Software Systems (AREA)
  • Animal Behavior & Ethology (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
AU2011373694A 2011-07-26 2011-07-26 Method for determining the presence or absence of different aneuploidies in a sample Abandoned AU2011373694A1 (en)

Applications Claiming Priority (1)

Application Number Priority Date Filing Date Title
PCT/US2011/045412 WO2013015793A1 (en) 2011-07-26 2011-07-26 Method for determining the presence or absence of different aneuploidies in a sample

Publications (1)

Publication Number Publication Date
AU2011373694A1 true AU2011373694A1 (en) 2013-05-02

Family

ID=44838718

Family Applications (1)

Application Number Title Priority Date Filing Date
AU2011373694A Abandoned AU2011373694A1 (en) 2011-07-26 2011-07-26 Method for determining the presence or absence of different aneuploidies in a sample

Country Status (9)

Country Link
EP (1) EP2563937A1 (zh)
JP (1) JP6161607B2 (zh)
KR (1) KR101974492B1 (zh)
CN (1) CN103003447B (zh)
AU (1) AU2011373694A1 (zh)
CA (1) CA2840418C (zh)
GB (1) GB2485635B (zh)
HK (1) HK1174063A1 (zh)
WO (1) WO2013015793A1 (zh)

Families Citing this family (48)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US20100112590A1 (en) 2007-07-23 2010-05-06 The Chinese University Of Hong Kong Diagnosing Fetal Chromosomal Aneuploidy Using Genomic Sequencing With Enrichment
AU2011207544A1 (en) 2010-01-19 2012-09-06 Verinata Health, Inc. Identification of polymorphic sequences in mixtures of genomic DNA by whole genome sequencing
US10388403B2 (en) 2010-01-19 2019-08-20 Verinata Health, Inc. Analyzing copy number variation in the detection of cancer
US20120100548A1 (en) 2010-10-26 2012-04-26 Verinata Health, Inc. Method for determining copy number variations
US9323888B2 (en) 2010-01-19 2016-04-26 Verinata Health, Inc. Detecting and classifying copy number variation
US9260745B2 (en) 2010-01-19 2016-02-16 Verinata Health, Inc. Detecting and classifying copy number variation
WO2011091063A1 (en) 2010-01-19 2011-07-28 Verinata Health, Inc. Partition defined detection methods
EP2848703A1 (en) 2010-01-19 2015-03-18 Verinata Health, Inc Simultaneous determination of aneuploidy and fetal fraction
WO2011090556A1 (en) 2010-01-19 2011-07-28 Verinata Health, Inc. Methods for determining fraction of fetal nucleic acid in maternal samples
RS57837B1 (sr) 2011-04-12 2018-12-31 Verinata Health Inc Razrešavanje genomskih frakcija upotrebom broja kopija polimorfizama
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
US11261494B2 (en) * 2012-06-21 2022-03-01 The Chinese University Of Hong Kong Method of measuring a fractional concentration of tumor DNA
AU2013204536A1 (en) * 2012-07-20 2014-02-06 Verinata Health, Inc. Detecting and classifying copy number variation in a cancer genome
AU2019200162B2 (en) * 2012-07-20 2021-10-07 Verinata Health, Inc. Detecting and classifying copy number variation
EP2882872B1 (en) 2012-08-13 2021-10-06 The Regents of The University of California Methods and systems for detecting biological components
GB201215449D0 (en) * 2012-08-30 2012-10-17 Zoragen Biotechnologies Llp Method of detecting chromosonal abnormalities
CA2898747C (en) * 2013-06-13 2021-09-21 Ariosa Diagnostics, Inc. Statistical analysis for non-invasive sex chromosome aneuploidy determination
WO2014204991A1 (en) * 2013-06-17 2014-12-24 Verinata Health, Inc. Method for determining copy number variations in sex chromosomes
CN104520437B (zh) * 2013-07-17 2016-09-14 深圳华大基因股份有限公司 一种染色体非整倍性检测方法及装置
MY181069A (en) 2013-10-04 2020-12-17 Sequenom Inc Methods and processes for non-invasive assessment of genetic variations
AU2014340239B2 (en) * 2013-10-21 2019-11-28 Verinata Health, Inc. Method for improving the sensitivity of detection in determining copy number variations
WO2015089726A1 (zh) * 2013-12-17 2015-06-25 深圳华大基因科技有限公司 一种染色体非整倍性检测方法及装置
KR102566176B1 (ko) * 2014-05-30 2023-08-10 베리나타 헬스, 인코포레이티드 태아 아-염색체 홀배수체 및 복제수 변이 탐지
WO2015200717A2 (en) 2014-06-27 2015-12-30 The Regents Of The University Of California Pcr-activated sorting (pas)
CN106795551B (zh) * 2014-09-26 2020-11-20 深圳华大基因股份有限公司 单细胞染色体的cnv分析方法和检测装置
WO2016065056A1 (en) 2014-10-22 2016-04-28 The Regents Of The University Of California High definition microdroplet printer
US11072814B2 (en) * 2014-12-12 2021-07-27 Verinata Health, Inc. Using cell-free DNA fragment size to determine copy number variations
WO2016109452A1 (en) * 2014-12-31 2016-07-07 Guardant Health , Inc. Detection and treatment of disease exhibiting disease cell heterogeneity and systems and methods for communicating test results
US10319463B2 (en) * 2015-01-23 2019-06-11 The Chinese University Of Hong Kong Combined size- and count-based analysis of maternal plasma for detection of fetal subchromosomal aberrations
EP3253479B1 (en) 2015-02-04 2022-09-21 The Regents of The University of California Sequencing of nucleic acids via barcoding in discrete entities
ES2908347T3 (es) 2015-02-10 2022-04-28 Univ Hong Kong Chinese Detección de mutaciones para cribado de cáncer y análisis fetal
CN104745718B (zh) * 2015-04-23 2018-02-16 北京中仪康卫医疗器械有限公司 一种检测人类胚胎染色体微缺失和微重复的方法
US10844428B2 (en) * 2015-04-28 2020-11-24 Illumina, Inc. Error suppression in sequenced DNA fragments using redundant reads with unique molecular indices (UMIS)
CN108350488A (zh) * 2015-08-17 2018-07-31 加利福尼亚大学董事会 基于微滴的多重置换扩增(mda)方法及相关组合物
WO2017044609A1 (en) 2015-09-08 2017-03-16 Cold Spring Harbor Laboratory Genetic copy number determination using high throughput multiplex sequencing of smashed nucleotides
CA3005067A1 (en) * 2015-11-12 2017-05-18 Samuel Williams Rapid sequencing of short dna fragments using nanopore technology
CN108475301A (zh) * 2015-12-04 2018-08-31 绿十字基因组公司 用于确定包含核酸的混合物的样品中的拷贝数变异的方法
US10095831B2 (en) 2016-02-03 2018-10-09 Verinata Health, Inc. Using cell-free DNA fragment size to determine copy number variations
CN109689891B (zh) * 2016-07-06 2024-06-18 夸登特健康公司 用于无细胞核酸的片段组谱分析的方法
US11142791B2 (en) 2016-08-10 2021-10-12 The Regents Of The University Of California Combined multiple-displacement amplification and PCR in an emulsion microdroplet
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
CN110462053A (zh) 2016-12-21 2019-11-15 加利福尼亚大学董事会 使用基于水凝胶的液滴进行单细胞基因组测序
CA3051509A1 (en) 2017-01-25 2018-08-02 The Chinese University Of Hong Kong Diagnostic applications using nucleic acid fragments
US11342047B2 (en) 2017-04-21 2022-05-24 Illumina, Inc. Using cell-free DNA fragment size to detect tumor-associated variant
JP2018183095A (ja) * 2017-04-26 2018-11-22 株式会社エンプラス 胎児由来造血前駆細胞の単離方法、および胎児の染色体異常の可能性を試験する方法
US10501739B2 (en) 2017-10-18 2019-12-10 Mission Bio, Inc. Method, systems and apparatus for single cell analysis
EP3948872A4 (en) * 2019-03-28 2023-04-26 Phase Genomics Inc. SEQUENCING KARYOTYPING SYSTEMS AND METHODS

Family Cites Families (11)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CA2647793C (en) * 2006-02-28 2016-07-05 University Of Louisville Research Foundation Detecting fetal chromosomal abnormalities using tandem single nucleotide polymorphisms
US20080050739A1 (en) * 2006-06-14 2008-02-28 Roland Stoughton Diagnosis of fetal abnormalities using polymorphisms including short tandem repeats
US8262900B2 (en) 2006-12-14 2012-09-11 Life Technologies Corporation Methods and apparatus for measuring analytes using large scale FET arrays
CA2900927C (en) * 2007-07-23 2018-08-14 The Chinese University Of Hong Kong Diagnosing fetal chromosomal aneuploidy using genomic sequencing
US20100112590A1 (en) * 2007-07-23 2010-05-06 The Chinese University Of Hong Kong Diagnosing Fetal Chromosomal Aneuploidy Using Genomic Sequencing With Enrichment
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
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
EP2494065B1 (en) * 2009-10-26 2015-12-23 Lifecodexx AG Means and methods for non-invasive diagnosis of chromosomal aneuploidy
WO2011091063A1 (en) * 2010-01-19 2011-07-28 Verinata Health, Inc. Partition defined detection methods
AU2011207544A1 (en) * 2010-01-19 2012-09-06 Verinata Health, Inc. Identification of polymorphic sequences in mixtures of genomic DNA by whole genome sequencing
EP2848703A1 (en) * 2010-01-19 2015-03-18 Verinata Health, Inc Simultaneous determination of aneuploidy and fetal fraction

Also Published As

Publication number Publication date
CA2840418A1 (en) 2013-01-31
CN103003447B (zh) 2020-08-25
HK1174063A1 (en) 2013-05-31
JP6161607B2 (ja) 2017-07-12
GB2485635B (en) 2012-11-28
GB2485635A (en) 2012-05-23
WO2013015793A1 (en) 2013-01-31
CN103003447A (zh) 2013-03-27
JP2014521334A (ja) 2014-08-28
CA2840418C (en) 2019-10-29
KR101974492B1 (ko) 2019-05-02
GB201114713D0 (en) 2011-10-12
EP2563937A1 (en) 2013-03-06
KR20140050032A (ko) 2014-04-28

Similar Documents

Publication Publication Date Title
US20220228197A1 (en) Method for determining copy number variations
US20210082538A1 (en) Normalizing chromosomes for the determination and verification of common and rare chromosomal aneuploidies
US20220106639A1 (en) Method for determining copy number variations
CA2840418C (en) Method for determining the presence or absence of different aneuploidies in a sample
EP2875149B1 (en) Detecting and classifying copy number variation in a cancer genome
CN108485940B (zh) 拷贝数变异的检测和分类
US20120237928A1 (en) Method for determining copy number variations
WO2014015319A1 (en) System for determining a copy number variation
AU2011365507A1 (en) Normalizing chromosomes for the determination and verification of common and rare chromosomal aneuploidies
AU2019200163A1 (en) Detecting and classifying copy number variation
AU2019200162B2 (en) Detecting and classifying copy number variation
AU2015203579B2 (en) Sequencing methods and compositions for prenatal diagnoses
AU2015204302B2 (en) Method for determining copy number variations

Legal Events

Date Code Title Description
MK5 Application lapsed section 142(2)(e) - patent request and compl. specification not accepted