BR112012010708A2 - método para realizar diagnóstico pré-natal, e, produto de programa de computador - Google Patents

método para realizar diagnóstico pré-natal, e, produto de programa de computador

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Publication number
BR112012010708A2
BR112012010708A2 BR112012010708A BR112012010708A BR112012010708A2 BR 112012010708 A2 BR112012010708 A2 BR 112012010708A2 BR 112012010708 A BR112012010708 A BR 112012010708A BR 112012010708 A BR112012010708 A BR 112012010708A BR 112012010708 A2 BR112012010708 A2 BR 112012010708A2
Authority
BR
Brazil
Prior art keywords
chromosome
size
prenatal diagnosis
haplotype
computer program
Prior art date
Application number
BR112012010708A
Other languages
English (en)
Inventor
Kwan Chee Chan
Wai Kwun Rossa Chiu
Wenli Zheng
Yuk Ming Dennis Lo
Original Assignee
Univ Hong Kong Chinese
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 Univ Hong Kong Chinese filed Critical Univ Hong Kong Chinese
Publication of BR112012010708A2 publication Critical patent/BR112012010708A2/pt

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    • 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
    • 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
    • C12Q1/6809—Methods for determination or identification of nucleic acids involving differential 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
    • 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
    • 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
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/112—Disease subtyping, staging or classification
    • 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
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/156—Polymorphic or mutational markers
    • 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
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/172—Haplotypes

Abstract

método para realizar diagnóstico pré-natal, e, produto de programa de computador. sistemas, métodos e aparelhos para a realização de um diagnóstico pré-natal de um desequilibrio de sequência são fornecidos. uma mudança (por exemplo,para uma distribuição de tamanho menor) pode significar um desequilibrio em certas circustâncias. por exemplo, uma distribuição de tamanho dos fragmentos de ácidos nucleicos a partir de um cromossomo em risco pode ser usada para determinar uma aneuploidia cromossômica fetal. uma classificação de tamanho de cromossomos diferentes pode ser usada para determinar mudanças de uma classificação de um cromossomo em risco a partir de uma classificação esperada. também, uma diferença entre um valor de tamanho estático para um cromossomo pode ser comparada com um valor de tamanho estático de outro cromossomo para identificar uma mudança significativa no tamanho. um genótipo e haplótipo do feto podem também ser determinados utilizando uma distribuição de tamanho para determinar se um desequilíbrio de sequência ocorre em uma amostra materna relativa a um genótipo ou haplótipo da mãe, proporcionando assim um genótipo ou haplótipo do feto.
BR112012010708A 2009-11-06 2010-11-05 método para realizar diagnóstico pré-natal, e, produto de programa de computador BR112012010708A2 (pt)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US25907609P 2009-11-06 2009-11-06
US36039910P 2010-06-30 2010-06-30
PCT/EP2010/066935 WO2011054936A1 (en) 2009-11-06 2010-11-05 Size-based genomic analysis

Publications (1)

Publication Number Publication Date
BR112012010708A2 true BR112012010708A2 (pt) 2016-03-29

Family

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Family Applications (1)

Application Number Title Priority Date Filing Date
BR112012010708A BR112012010708A2 (pt) 2009-11-06 2010-11-05 método para realizar diagnóstico pré-natal, e, produto de programa de computador

Country Status (12)

Country Link
US (4) US8620593B2 (pt)
EP (3) EP2496713B1 (pt)
JP (2) JP5770737B2 (pt)
CN (2) CN107312844B (pt)
AU (1) AU2010317019B2 (pt)
BR (1) BR112012010708A2 (pt)
CA (1) CA2780016C (pt)
EA (1) EA034241B1 (pt)
IL (1) IL219545A (pt)
MX (2) MX357692B (pt)
TW (1) TWI445854B (pt)
WO (1) WO2011054936A1 (pt)

Families Citing this family (74)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
EP3067807A1 (en) * 2007-07-23 2016-09-14 The Chinese University of Hong Kong Diagnosing fetal chromosomal aneuploidy using genomic sequencing
US8709726B2 (en) 2008-03-11 2014-04-29 Sequenom, Inc. Nucleic acid-based tests for prenatal gender determination
US8476013B2 (en) 2008-09-16 2013-07-02 Sequenom, Inc. Processes and compositions for methylation-based acid enrichment of fetal nucleic acid from a maternal sample useful for non-invasive prenatal diagnoses
US8962247B2 (en) 2008-09-16 2015-02-24 Sequenom, Inc. Processes and compositions for methylation-based enrichment of fetal nucleic acid from a maternal sample useful for non invasive prenatal diagnoses
AU2010315037B9 (en) 2009-11-05 2015-04-23 Sequenom, Inc. Fetal genomic analysis from a maternal biological sample
EA034241B1 (ru) * 2009-11-06 2020-01-21 Те Чайниз Юниверсити Ов Гонконг Способ пренатальной диагностики дисбаланса последовательности
EP2516680B1 (en) 2009-12-22 2016-04-06 Sequenom, Inc. Processes and kits for identifying aneuploidy
CN101921874B (zh) * 2010-06-30 2013-09-11 深圳华大基因科技有限公司 基于Solexa测序法的检测人类乳头瘤病毒的方法
US10167508B2 (en) 2010-08-06 2019-01-01 Ariosa Diagnostics, Inc. Detection of genetic abnormalities
US20120034603A1 (en) 2010-08-06 2012-02-09 Tandem Diagnostics, Inc. Ligation-based detection of genetic variants
US11203786B2 (en) 2010-08-06 2021-12-21 Ariosa Diagnostics, Inc. Detection of target nucleic acids using hybridization
US8700338B2 (en) 2011-01-25 2014-04-15 Ariosa Diagnosis, Inc. Risk calculation for evaluation of fetal aneuploidy
US11031095B2 (en) 2010-08-06 2021-06-08 Ariosa Diagnostics, Inc. Assay systems for determination of fetal copy number variation
US20140342940A1 (en) 2011-01-25 2014-11-20 Ariosa Diagnostics, Inc. Detection of Target Nucleic Acids using Hybridization
US10533223B2 (en) 2010-08-06 2020-01-14 Ariosa Diagnostics, Inc. Detection of target nucleic acids using hybridization
US20130040375A1 (en) 2011-08-08 2013-02-14 Tandem Diagnotics, Inc. Assay systems for genetic analysis
US20130261003A1 (en) 2010-08-06 2013-10-03 Ariosa Diagnostics, In. Ligation-based detection of genetic variants
MX349568B (es) 2010-11-30 2017-08-03 Univ Hong Kong Chinese Deteccion de aberraciones geneticas o moleculares asociadas con el cancer.
US10131947B2 (en) 2011-01-25 2018-11-20 Ariosa Diagnostics, Inc. Noninvasive detection of fetal aneuploidy in egg donor pregnancies
US8756020B2 (en) 2011-01-25 2014-06-17 Ariosa Diagnostics, Inc. Enhanced risk probabilities using biomolecule estimations
US11270781B2 (en) 2011-01-25 2022-03-08 Ariosa Diagnostics, Inc. Statistical analysis for non-invasive sex chromosome aneuploidy determination
US9994897B2 (en) 2013-03-08 2018-06-12 Ariosa Diagnostics, Inc. Non-invasive fetal sex determination
CN103717750B (zh) 2011-04-29 2017-03-08 塞昆纳姆股份有限公司 少数核酸物质的定量
US8712697B2 (en) 2011-09-07 2014-04-29 Ariosa Diagnostics, Inc. Determination of copy number variations using binomial probability calculations
US10424394B2 (en) 2011-10-06 2019-09-24 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
EP2771483A1 (en) * 2011-10-25 2014-09-03 ONCOTYROL - Center for Personalized Cancer Medicine GmbH Method for diagnosing a disease based on plasma-dna distribution
EP4155401A1 (en) 2012-03-02 2023-03-29 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
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
US10289800B2 (en) 2012-05-21 2019-05-14 Ariosa Diagnostics, Inc. Processes for calculating phased fetal genomic sequences
US10504613B2 (en) 2012-12-20 2019-12-10 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US9920361B2 (en) 2012-05-21 2018-03-20 Sequenom, Inc. Methods and compositions for analyzing nucleic acid
US11261494B2 (en) 2012-06-21 2022-03-01 The Chinese University Of Hong Kong Method of measuring a fractional concentration of tumor DNA
WO2014011928A1 (en) 2012-07-13 2014-01-16 Sequenom, Inc. Processes and compositions for methylation-based enrichment of fetal nucleic acid from a maternal sample useful for non-invasive prenatal diagnoses
WO2014015269A1 (en) 2012-07-19 2014-01-23 Ariosa Diagnostics, Inc. Multiplexed sequential ligation-based detection of genetic variants
GB201215449D0 (en) * 2012-08-30 2012-10-17 Zoragen Biotechnologies Llp Method of detecting chromosonal abnormalities
FI3536807T3 (fi) 2012-09-20 2024-02-01 Univ Hong Kong Chinese Kasvaimen metylomin noninvasiivinen määritys plasmasta
US10482994B2 (en) 2012-10-04 2019-11-19 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
WO2014168711A1 (en) 2013-03-13 2014-10-16 Sequenom, Inc. Primers for dna methylation analysis
EP2971126B1 (en) 2013-03-15 2018-11-07 The Chinese University Of Hong Kong Determining fetal genomes for multiple fetus pregnancies
EP3008215B1 (en) * 2013-06-13 2020-01-01 Ariosa Diagnostics, Inc. Statistical analysis for non-invasive sex chromosome aneuploidy determination
US10622094B2 (en) * 2013-06-21 2020-04-14 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US10741269B2 (en) 2013-10-21 2020-08-11 Verinata Health, Inc. Method for improving the sensitivity of detection in determining copy number variations
EP3736344A1 (en) 2014-03-13 2020-11-11 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
JP6659672B2 (ja) 2014-05-30 2020-03-04 ベリナタ ヘルス インコーポレイテッド 胎児染色体部分異数性およびコピー数変動の検出
PT3152331T (pt) 2014-06-06 2019-11-05 Univ Cornell Método para identificação e enumeração de alterações de sequência de ácidos nucleicos, expressão, cópia ou metilação de adn, utilizando reações de nuclease, ligase, polimerase e sequenciação combinadas
WO2016008451A1 (en) * 2014-07-18 2016-01-21 The Chinese University Of Hong Kong Methylation pattern analysis of tissues in dna mixture
KR20220127359A (ko) 2014-07-25 2022-09-19 유니버시티 오브 워싱톤 무세포 dna를 생성하는 조직 및/또는 세포 유형을 결정하는 방법 및 이를 사용하여 질환 또는 장애를 확인하는 방법
MX2017001405A (es) * 2014-08-01 2017-05-17 Ariosa Diagnostics Inc Deteccion de acidos nucleicos diana mediante el uso de hibridacion.
CN114181997A (zh) * 2014-12-12 2022-03-15 维里纳塔健康股份有限公司 使用无细胞dna片段大小来确定拷贝数变化
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
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
EP3256605B1 (en) 2015-02-10 2022-02-09 The Chinese University Of Hong Kong Detecting mutations for cancer screening and fetal analysis
CN104789686B (zh) * 2015-05-06 2018-09-07 浙江安诺优达生物科技有限公司 检测染色体非整倍性的试剂盒和装置
US11111538B2 (en) 2015-05-22 2021-09-07 Nipd Genetics Public Company Ltd Multiplexed parallel analysis of targeted genomic regions for non-invasive prenatal testing
CN108138233B (zh) 2015-07-20 2022-08-26 香港中文大学 Dna混合物中组织的单倍型的甲基化模式分析
TWI730973B (zh) 2015-07-23 2021-06-21 香港中文大學 游離ｄｎａ(ｃｅｌｌ-ｆｒｅｅ ｄｎａ)之片段化模式分析
MY188348A (en) 2015-08-12 2021-12-02 Univ Hong Kong Chinese Single-molecule sequencing of plasma dna
US10095831B2 (en) 2016-02-03 2018-10-09 Verinata Health, Inc. Using cell-free DNA fragment size to determine copy number variations
CA3020669A1 (en) * 2016-04-11 2017-10-19 Quantum Biosystems Inc. Systems and methods for biological data management
US11854666B2 (en) 2016-09-29 2023-12-26 Myriad Women's Health, Inc. Noninvasive prenatal screening using dynamic iterative depth optimization
WO2018072705A1 (en) 2016-10-19 2018-04-26 The Chinese University Of Hong Kong Gestational age assessment by methylation and size profiling of maternal plasma dna
MY195527A (en) 2016-10-24 2023-01-30 Grail Inc Methods And Systems For Tumor Detection
CN106591451B (zh) * 2016-12-14 2020-06-23 北京贝瑞和康生物技术有限公司 测定胎儿游离dna含量的方法及其用于实施该方法的装置
MY197535A (en) 2017-01-25 2023-06-21 Univ Hong Kong Chinese Diagnostic applications using nucleic acid fragments
AU2018244815A1 (en) * 2017-03-31 2019-10-31 Premaitha Limited Method of detecting a fetal chromosomal abnormality
US11342047B2 (en) 2017-04-21 2022-05-24 Illumina, Inc. Using cell-free DNA fragment size to detect tumor-associated variant
CA3070898A1 (en) 2017-07-26 2019-01-31 The Chinese University Of Hong Kong Enhancement of cancer screening using cell-free viral nucleic acids
US11168356B2 (en) 2017-11-02 2021-11-09 The Chinese University Of Hong Kong Using nucleic acid size range for noninvasive cancer detection
CN108827887B (zh) * 2018-03-19 2021-05-18 陕西学前师范学院 一种商陆基因组大小估计方法及基因组大小测量系统
CN112292458A (zh) 2018-05-03 2021-01-29 香港中文大学 测量无细胞混合物特性的尺寸标记的优选末端和识别方向的分析
CA3130810A1 (en) 2019-03-25 2020-10-01 The Chinese University Of Hong Kong Determining linear and circular forms of circulating nucleic acids
CA3147613A1 (en) * 2019-08-19 2021-02-25 Chang-Seok Ki Method for detecting chromosomal abnormality by using information about distance between nucleic acid fragments
CN115066504A (zh) * 2020-02-05 2022-09-16 香港中文大学 使用孕妇体内的长游离片段进行的分子分析

Family Cites Families (23)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
GB0016742D0 (en) * 2000-07-10 2000-08-30 Simeg Limited Diagnostic method
US6664056B2 (en) * 2000-10-17 2003-12-16 The Chinese University Of Hong Kong Non-invasive prenatal monitoring
IL158017A0 (en) * 2001-03-23 2004-03-28 Gencell Sa Methods for purifying and detecting double stranded dna target sequences by triple helix interaction
US6927028B2 (en) 2001-08-31 2005-08-09 Chinese University Of Hong Kong Non-invasive methods for detecting non-host DNA in a host using epigenetic differences between the host and non-host DNA
US8394582B2 (en) 2003-03-05 2013-03-12 Genetic Technologies, Inc Identification of fetal DNA and fetal cell markers in maternal plasma or serum
AU2003901671A0 (en) * 2003-04-02 2003-05-01 The University Of Adelaide Comparative genomic hybridization
DE60328193D1 (de) 2003-10-16 2009-08-13 Sequenom Inc Nicht invasiver Nachweis fötaler genetischer Merkmale
AU2006224971B2 (en) * 2005-03-18 2009-07-02 Boston University A method for the detection of chromosomal aneuploidies
US20070122823A1 (en) 2005-09-01 2007-05-31 Bianchi Diana W Amniotic fluid cell-free fetal DNA fragment size pattern for prenatal diagnosis
PT2385143T (pt) 2006-02-02 2016-10-18 Univ Leland Stanford Junior Rastreio genético fetal não-invasivo por análise digital
ATE508209T1 (de) 2006-02-28 2011-05-15 Univ Louisville Res Found Erkennung von chromosomabnormalitäten im fötus mit hilfe der tandem-einzelnukleotid- polymorphismen
EP2140027B1 (en) * 2006-12-07 2012-07-18 Novartis AG Non-invasive prenatal genetic screen
EP3067807A1 (en) 2007-07-23 2016-09-14 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
US20090053719A1 (en) 2007-08-03 2009-02-26 The Chinese University Of Hong Kong Analysis of nucleic acids by digital pcr
US8835110B2 (en) 2008-11-04 2014-09-16 The Johns Hopkins University DNA integrity assay (DIA) for cancer diagnostics, using confocal fluorescence spectroscopy
US20120021428A1 (en) 2009-03-31 2012-01-26 Marcus Otte Method for diagnosis of cancer and monitoring of cancer treatments
WO2011053790A2 (en) 2009-10-30 2011-05-05 Fluidigm Corporation Assay of closely linked targets in fetal diagnosis and coincidence detection assay for genetic analysis
EA034241B1 (ru) * 2009-11-06 2020-01-21 Те Чайниз Юниверсити Ов Гонконг Способ пренатальной диагностики дисбаланса последовательности
AU2011207544A1 (en) 2010-01-19 2012-09-06 Verinata Health, Inc. Identification of polymorphic sequences in mixtures of genomic DNA by whole genome sequencing
EP2883965B8 (en) 2010-01-19 2018-06-27 Verinata Health, Inc Method for determining copy number variations
US20130210645A1 (en) 2010-02-18 2013-08-15 The Johns Hopkins University Personalized tumor biomarkers
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

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JP5770737B2 (ja) 2015-08-26
JP2015165805A (ja) 2015-09-24
EP2496713A1 (en) 2012-09-12
US9982300B2 (en) 2018-05-29
US20180237858A1 (en) 2018-08-23
EA034241B1 (ru) 2020-01-21
EP3406737A1 (en) 2018-11-28
EP4212630A1 (en) 2023-07-19
TWI445854B (zh) 2014-07-21
CN107312844A (zh) 2017-11-03
US20110276277A1 (en) 2011-11-10
US20140080720A1 (en) 2014-03-20
EP3406737B1 (en) 2023-05-31
MX2012005217A (es) 2012-07-23
EA201200701A1 (ru) 2012-12-28
CA2780016C (en) 2017-09-19
MX357692B (es) 2018-07-19
US11365448B2 (en) 2022-06-21
JP6001721B2 (ja) 2016-10-05
AU2010317019B2 (en) 2014-10-30
CA2780016A1 (en) 2011-05-12
IL219545A (en) 2015-02-26
US8620593B2 (en) 2013-12-31
CN107312844B (zh) 2021-01-22
EP2496713B1 (en) 2018-07-18
JP2013509870A (ja) 2013-03-21
AU2010317019A1 (en) 2012-05-31
CN102791881B (zh) 2017-08-08
WO2011054936A1 (en) 2011-05-12
US20220282332A1 (en) 2022-09-08
TW201129736A (en) 2011-09-01
IL219545A0 (en) 2012-06-28
CN102791881A (zh) 2012-11-21

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