BR112012010694A2 - métodos para determinar pelo menos uma porção do genoma de um feto não nascido de uma fêmea grávida, para identificar uma mutação de novo no genoma de um feto não nascido de uma fêmea grávida, para determinar uma concentração fracionária de dna fetal em uma amostra biológica tirada de uma fêmea grávida e para determinar uma proporção de um genoma fetal que foi sequenciado a partir de uma amostra biológica tirada de uma fêmea grávida - Google Patents

métodos para determinar pelo menos uma porção do genoma de um feto não nascido de uma fêmea grávida, para identificar uma mutação de novo no genoma de um feto não nascido de uma fêmea grávida, para determinar uma concentração fracionária de dna fetal em uma amostra biológica tirada de uma fêmea grávida e para determinar uma proporção de um genoma fetal que foi sequenciado a partir de uma amostra biológica tirada de uma fêmea grávida

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Publication number
BR112012010694A2
BR112012010694A2 BR112012010694A BR112012010694A BR112012010694A2 BR 112012010694 A2 BR112012010694 A2 BR 112012010694A2 BR 112012010694 A BR112012010694 A BR 112012010694A BR 112012010694 A BR112012010694 A BR 112012010694A BR 112012010694 A2 BR112012010694 A2 BR 112012010694A2
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Brazil
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pregnant female
genome
fetal
biological sample
sample taken
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BR112012010694A
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English (en)
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BR112012010694B1 (pt
BR112012010694B8 (pt
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Cantor Charles
Chee Chan Kwan
Kwun Rossa Chiu Wai
Ming Dennis Lo Yuk
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Sequenom Inc
Univ Hong Kong Chinese
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Publication of BR112012010694A2 publication Critical patent/BR112012010694A2/pt
Publication of BR112012010694B1 publication Critical patent/BR112012010694B1/pt
Publication of BR112012010694B8 publication Critical patent/BR112012010694B8/pt

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Abstract

"métodos para determinar pelo menos uma porção do genoma de um feto não nascido de uma fêmea grávida, para identificar uma mutação de novo genoma de um feto não nascido de uma fêmea grávida, para determinar uma concentração fracionária de dna fetal em uma amostra biológica tirada de uma fêmea grávida e para determinar uma proporção de um genoma fetal que foi sequenciado a partir de uma amostra biológica tirada de uma fêmea grávida" sistemas, métodos, e aparelho para determinar pelo menos uma porção de genoma fetal são fornecidos. os fragmentos de dna de uma amostra materna (dna materno e fetal) podem ser analisados para identificar alelos em certos locais. as quantidades de fragmentos de dna dos respectivos alelos nestes locais podem ser analisados juntas para determinar quantidades relativas dos haplotipos para estes locais e determinar quais haplotipos foram herdados dos genomas dos pais. locais onde os pais são uma combinação específica de homozigoto e heterozigoto podem ser analisados para determinar regiões do genoma fetal. os haplotipos de referência comuns na população podem ser usados juntos como a análise dos fragmentos de dna da amostra materna para determinar os genomas materno e paterno. a determinação de mutações, uma concentração de dna fetal fracionário em uma amostra materna, e uma proporção de cobertura de um sequenciamento da amostra materna também podem ser fornecidos.
BR112012010694A 2009-11-05 2010-11-05 método para determinar pelo menos uma porção do genoma de um feto não nascido de uma fêmea grávida, e, meio legível por computador não transitório BR112012010694B8 (pt)

Applications Claiming Priority (7)

Application Number Priority Date Filing Date Title
US25856709P 2009-11-05 2009-11-05
US61/258567 2009-11-05
US25907509P 2009-11-06 2009-11-06
US61/259075 2009-11-06
US38185410P 2010-09-10 2010-09-10
US61/381854 2010-09-10
PCT/US2010/055655 WO2011057094A1 (en) 2009-11-05 2010-11-05 Fetal genomic analysis from a maternal biological sample

Publications (3)

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BR112012010694A2 true BR112012010694A2 (pt) 2018-09-11
BR112012010694B1 BR112012010694B1 (pt) 2020-11-17
BR112012010694B8 BR112012010694B8 (pt) 2021-07-27

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US (5) US8467976B2 (pt)
EP (5) EP4170043A1 (pt)
JP (3) JP5540105B2 (pt)
CN (2) CN102770558B (pt)
AU (1) AU2010315037B9 (pt)
BR (1) BR112012010694B8 (pt)
CA (1) CA2779695C (pt)
CY (1) CY1122003T1 (pt)
DK (3) DK3783110T3 (pt)
EA (1) EA033752B1 (pt)
ES (3) ES2720282T3 (pt)
FI (1) FI3783110T3 (pt)
HK (1) HK1222413A1 (pt)
HR (2) HRP20230134T1 (pt)
HU (3) HUE061110T2 (pt)
IL (3) IL219521A (pt)
LT (2) LT3783110T (pt)
MX (3) MX355132B (pt)
PL (3) PL3783110T3 (pt)
PT (3) PT3241914T (pt)
RS (2) RS58879B1 (pt)
SI (2) SI3241914T1 (pt)
TW (1) TWI458976B (pt)
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Families Citing this family (195)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US9424392B2 (en) 2005-11-26 2016-08-23 Natera, Inc. System and method for cleaning noisy genetic data from target individuals using genetic data from genetically related individuals
US10083273B2 (en) 2005-07-29 2018-09-25 Natera, Inc. System and method for cleaning noisy genetic data and determining chromosome copy number
US8532930B2 (en) 2005-11-26 2013-09-10 Natera, Inc. Method for determining the number of copies of a chromosome in the genome of a target individual using genetic data from genetically related individuals
US11111543B2 (en) 2005-07-29 2021-09-07 Natera, Inc. System and method for cleaning noisy genetic data and determining chromosome copy number
US10081839B2 (en) 2005-07-29 2018-09-25 Natera, Inc System and method for cleaning noisy genetic data and determining chromosome copy number
US11111544B2 (en) 2005-07-29 2021-09-07 Natera, Inc. System and method for cleaning noisy genetic data and determining chromosome copy number
US8609338B2 (en) 2006-02-28 2013-12-17 University Of Louisville Research Foundation, Inc. Detecting fetal chromosomal abnormalities using tandem single nucleotide polymorphisms
DK2351858T3 (da) 2006-02-28 2015-04-07 Univ Louisville Res Found Påvisning af føtale kromosomabnormiteter ved anvendelse af tandem-enkeltnukleotid-polymorfismer
US20080070792A1 (en) 2006-06-14 2008-03-20 Roland Stoughton Use of highly parallel snp genotyping for fetal diagnosis
US20080050739A1 (en) 2006-06-14 2008-02-28 Roland Stoughton Diagnosis of fetal abnormalities using polymorphisms including short tandem repeats
US20110033862A1 (en) * 2008-02-19 2011-02-10 Gene Security Network, Inc. Methods for cell genotyping
US8709726B2 (en) * 2008-03-11 2014-04-29 Sequenom, Inc. Nucleic acid-based tests for prenatal gender determination
WO2009146335A1 (en) * 2008-05-27 2009-12-03 Gene Security Network, Inc. Methods for embryo characterization and comparison
ES2620431T3 (es) * 2008-08-04 2017-06-28 Natera, Inc. Métodos para la determinación de alelos y de ploidía
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
US20110159499A1 (en) * 2009-11-25 2011-06-30 Quantalife, Inc. Methods and compositions for detecting genetic material
US9524369B2 (en) 2009-06-15 2016-12-20 Complete Genomics, Inc. Processing and analysis of complex nucleic acid sequence data
WO2011041485A1 (en) 2009-09-30 2011-04-07 Gene Security Network, Inc. Methods for non-invasive prenatal ploidy calling
CA2779695C (en) 2009-11-05 2016-05-24 The Chinese University Of Hong Kong Fetal genomic analysis from a maternal biological sample
DK2516680T3 (en) 2009-12-22 2016-05-02 Sequenom Inc Method and kits to identify aneuploidy
EP2848704B1 (en) 2010-01-19 2018-08-29 Verinata Health, Inc Sequencing methods for prenatal diagnoses
US9260745B2 (en) 2010-01-19 2016-02-16 Verinata Health, Inc. Detecting and classifying copy number variation
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
EP2526415B1 (en) 2010-01-19 2017-05-03 Verinata Health, Inc Partition defined detection methods
US20120010085A1 (en) 2010-01-19 2012-01-12 Rava Richard P Methods for determining fraction of fetal nucleic acids in maternal samples
US10388403B2 (en) 2010-01-19 2019-08-20 Verinata Health, Inc. Analyzing copy number variation in the detection of cancer
AU2011207544A1 (en) * 2010-01-19 2012-09-06 Verinata Health, Inc. Identification of polymorphic sequences in mixtures of genomic DNA by whole genome sequencing
US20110312503A1 (en) 2010-01-23 2011-12-22 Artemis Health, Inc. Methods of fetal abnormality detection
US11408031B2 (en) 2010-05-18 2022-08-09 Natera, Inc. Methods for non-invasive prenatal paternity testing
US11326208B2 (en) 2010-05-18 2022-05-10 Natera, Inc. Methods for nested PCR amplification of cell-free DNA
US10316362B2 (en) 2010-05-18 2019-06-11 Natera, Inc. Methods for simultaneous amplification of target loci
US11332785B2 (en) 2010-05-18 2022-05-17 Natera, Inc. Methods for non-invasive prenatal ploidy calling
US20190010543A1 (en) 2010-05-18 2019-01-10 Natera, Inc. Methods for simultaneous amplification of target loci
US9677118B2 (en) 2014-04-21 2017-06-13 Natera, Inc. Methods for simultaneous amplification of target loci
US11339429B2 (en) 2010-05-18 2022-05-24 Natera, Inc. Methods for non-invasive prenatal ploidy calling
US11322224B2 (en) * 2010-05-18 2022-05-03 Natera, Inc. Methods for non-invasive prenatal ploidy calling
EP2854058A3 (en) 2010-05-18 2015-10-28 Natera, Inc. Methods for non-invasive pre-natal ploidy calling
US11939634B2 (en) 2010-05-18 2024-03-26 Natera, Inc. Methods for simultaneous amplification of target loci
US11332793B2 (en) 2010-05-18 2022-05-17 Natera, Inc. Methods for simultaneous amplification of target loci
WO2012012703A2 (en) * 2010-07-23 2012-01-26 Esoterix Genetic Laboratories, Llc Identification of differentially represented fetal or maternal genomic regions and uses thereof
US10167508B2 (en) 2010-08-06 2019-01-01 Ariosa Diagnostics, Inc. Detection of genetic abnormalities
US20140342940A1 (en) 2011-01-25 2014-11-20 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
US8700338B2 (en) 2011-01-25 2014-04-15 Ariosa Diagnosis, Inc. Risk calculation for evaluation of fetal aneuploidy
US10533223B2 (en) 2010-08-06 2020-01-14 Ariosa Diagnostics, Inc. Detection of target nucleic acids using hybridization
US11203786B2 (en) 2010-08-06 2021-12-21 Ariosa Diagnostics, Inc. Detection of target nucleic acids using hybridization
US11031095B2 (en) 2010-08-06 2021-06-08 Ariosa Diagnostics, Inc. Assay systems for determination of fetal copy number variation
US20130261003A1 (en) 2010-08-06 2013-10-03 Ariosa Diagnostics, In. Ligation-based detection of genetic variants
US20120034603A1 (en) 2010-08-06 2012-02-09 Tandem Diagnostics, Inc. Ligation-based detection of genetic variants
KR102185244B1 (ko) 2010-11-30 2020-12-02 더 차이니즈 유니버시티 오브 홍콩 암과 연관된 유전적 또는 분자적 이상들의 검출
CN103620055A (zh) * 2010-12-07 2014-03-05 利兰·斯坦福青年大学托管委员会 在全基因组规模非侵入性确定亲本单倍型的胎儿遗传
JP6328934B2 (ja) 2010-12-22 2018-05-23 ナテラ， インコーポレイテッド 非侵襲性出生前親子鑑定法
US10131947B2 (en) 2011-01-25 2018-11-20 Ariosa Diagnostics, Inc. Noninvasive detection of fetal aneuploidy in egg donor pregnancies
US11270781B2 (en) 2011-01-25 2022-03-08 Ariosa Diagnostics, Inc. Statistical analysis for non-invasive sex chromosome aneuploidy determination
US8756020B2 (en) * 2011-01-25 2014-06-17 Ariosa Diagnostics, Inc. Enhanced risk probabilities using biomolecule estimations
US20120190021A1 (en) * 2011-01-25 2012-07-26 Aria Diagnostics, Inc. Detection of genetic abnormalities
US9994897B2 (en) 2013-03-08 2018-06-12 Ariosa Diagnostics, Inc. Non-invasive fetal sex determination
WO2012109500A2 (en) 2011-02-09 2012-08-16 Bio-Rad Laboratories, Inc. Analysis of nucleic acids
JP6153874B2 (ja) 2011-02-09 2017-06-28 ナテラ， インコーポレイテッド 非侵襲的出生前倍数性呼び出しのための方法
EP3489368B1 (en) 2011-02-24 2020-09-09 The Chinese University Of Hong Kong Molecular testing of multiple pregnancies
DK2697392T3 (en) * 2011-04-12 2016-03-29 Verinata Health Inc SOLUTION OF GENOME FRACTIONS USING Polymorphism COUNTS
GB2484764B (en) 2011-04-14 2012-09-05 Verinata Health Inc Normalizing chromosomes for the determination and verification of common and rare chromosomal aneuploidies
US9411937B2 (en) 2011-04-15 2016-08-09 Verinata Health, Inc. Detecting and classifying copy number variation
WO2012177792A2 (en) 2011-06-24 2012-12-27 Sequenom, Inc. Methods and processes for non-invasive assessment of a genetic variation
WO2013028739A1 (en) * 2011-08-25 2013-02-28 Complete Genomics Phasing of heterozygous loci to determine genomic haplotypes
US8712697B2 (en) 2011-09-07 2014-04-29 Ariosa Diagnostics, Inc. Determination of copy number variations using binomial probability calculations
US9367663B2 (en) 2011-10-06 2016-06-14 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US10196681B2 (en) 2011-10-06 2019-02-05 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US10424394B2 (en) 2011-10-06 2019-09-24 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
WO2013052907A2 (en) 2011-10-06 2013-04-11 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US9984198B2 (en) 2011-10-06 2018-05-29 Sequenom, Inc. Reducing sequence read count error in assessment of complex genetic variations
LT2805280T (lt) 2012-01-20 2022-12-27 Sequenom, Inc. Diagnostikos būdai, kurie atsižvelgia į eksperimentines sąlygas
US9238836B2 (en) 2012-03-30 2016-01-19 Pacific Biosciences Of California, Inc. Methods and compositions for sequencing modified nucleic acids
WO2013130848A1 (en) * 2012-02-29 2013-09-06 Natera, Inc. Informatics enhanced analysis of fetal samples subject to maternal contamination
ES2930180T3 (es) * 2012-03-02 2022-12-07 Sequenom Inc Métodos para enriquecer ácido nucleico canceroso a partir de una muestra biológica
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
EP2825991B1 (en) 2012-03-13 2019-05-15 The Chinese University Of Hong Kong Methods for analyzing massively parallel sequencing data for noninvasive prenatal diagnosis
RU2597981C2 (ru) * 2012-05-14 2016-09-20 БГИ Диагносис Ко., Лтд. Способ и система для определения нуклеотидной последовательности в заданной области генома плода
US10504613B2 (en) 2012-12-20 2019-12-10 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US10289800B2 (en) 2012-05-21 2019-05-14 Ariosa Diagnostics, Inc. Processes for calculating phased fetal genomic sequences
US9920361B2 (en) 2012-05-21 2018-03-20 Sequenom, Inc. Methods and compositions for analyzing nucleic acid
WO2013177581A2 (en) * 2012-05-24 2013-11-28 University Of Washington Through Its Center For Commercialization Whole genome sequencing of a human fetus
US11261494B2 (en) 2012-06-21 2022-03-01 The Chinese University Of Hong Kong Method of measuring a fractional concentration of tumor DNA
US10497461B2 (en) 2012-06-22 2019-12-03 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US20140093873A1 (en) * 2012-07-13 2014-04-03 Sequenom, Inc. Processes and compositions for methylation-based enrichment of fetal nucleic acid from a maternal sample useful for non-invasive prenatal diagnoses
EP2872650A2 (en) * 2012-07-13 2015-05-20 Life Technologies Corporation Human identifiation using a panel of snps
CN104583421A (zh) 2012-07-19 2015-04-29 阿瑞奥萨诊断公司 遗传变体的基于多重的顺序连接的检测
US20140065621A1 (en) * 2012-09-04 2014-03-06 Natera, Inc. Methods for increasing fetal fraction in maternal blood
CA2883245A1 (en) * 2012-09-06 2014-03-13 Ancestry.Com Dna, Llc Using haplotypes to infer ancestral origins for recently admixed individuals
US9732390B2 (en) 2012-09-20 2017-08-15 The Chinese University Of Hong Kong Non-invasive determination of methylome of fetus or tumor from plasma
US10706957B2 (en) 2012-09-20 2020-07-07 The Chinese University Of Hong Kong Non-invasive determination of methylome of tumor from plasma
EP3536807B1 (en) * 2012-09-20 2023-11-29 The Chinese University of Hong Kong Non-invasive determination of methylome of tumor from plasma
US10482994B2 (en) 2012-10-04 2019-11-19 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US9213947B1 (en) 2012-11-08 2015-12-15 23Andme, Inc. Scalable pipeline for local ancestry inference
US9836576B1 (en) 2012-11-08 2017-12-05 23Andme, Inc. Phasing of unphased genotype data
US10643738B2 (en) * 2013-01-10 2020-05-05 The Chinese University Of Hong Kong Noninvasive prenatal molecular karyotyping from maternal plasma
EP4414990A2 (en) 2013-01-17 2024-08-14 Personalis, Inc. Methods and systems for genetic analysis
US20130309666A1 (en) 2013-01-25 2013-11-21 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
EP2961851B1 (en) 2013-02-28 2018-04-25 The Chinese University Of Hong Kong Maternal plasma transcriptome analysis by massively parallel rna sequencing
EP2971100A1 (en) 2013-03-13 2016-01-20 Sequenom, Inc. Primers for dna methylation analysis
EA201500939A1 (ru) * 2013-03-15 2016-01-29 Те Чайниз Юниверсити Ов Гонконг Определение геномов плодов при многоплодных беременностях
LT2981921T (lt) 2013-04-03 2023-02-27 Sequenom, Inc. Neinvazinio genetinių variacijų vertinimo būdai ir procesai
JP2016516449A (ja) * 2013-05-09 2016-06-09 エフ．ホフマン−ラ ロシュ アーゲーＦ． Ｈｏｆｆｍａｎｎ−Ｌａ Ｒｏｃｈｅ Ａｋｔｉｅｎｇｅｓｅｌｌｓｃｈａｆｔ Ｈｌａマーカーを使用する母体血液中の胎児ｄｎａ分率の決定方法
IL309903A (en) 2013-05-24 2024-03-01 Sequenom Inc Methods and processes for non-invasive evaluation of genetic variations
KR102299305B1 (ko) 2013-06-21 2021-09-06 시쿼넘, 인코포레이티드 유전적 변이의 비침습 평가를 위한 방법 및 프로세스
US20150004601A1 (en) * 2013-06-28 2015-01-01 Ariosa Diagnostics, Inc. Massively parallel sequencing of random dna fragments for determination of fetal fraction
GB201318369D0 (en) * 2013-10-17 2013-12-04 Univ Leuven Kath Methods using BAF
WO2015031689A1 (en) 2013-08-30 2015-03-05 Personalis, Inc. Methods and systems for genomic analysis
US10577655B2 (en) 2013-09-27 2020-03-03 Natera, Inc. Cell free DNA diagnostic testing standards
WO2015048535A1 (en) 2013-09-27 2015-04-02 Natera, Inc. Prenatal diagnostic resting standards
US10262755B2 (en) 2014-04-21 2019-04-16 Natera, Inc. Detecting cancer mutations and aneuploidy in chromosomal segments
GB2535066A (en) 2013-10-03 2016-08-10 Personalis Inc Methods for analyzing genotypes
BR112016007401B1 (pt) 2013-10-04 2023-04-11 Sequenom, Inc. Método para determinar a presença ou ausência de uma aneuploidia cromossômica em uma amostra
CA2925111C (en) 2013-10-07 2024-01-16 Sequenom, Inc. Methods and processes for non-invasive assessment of chromosome alterations
US11365447B2 (en) 2014-03-13 2022-06-21 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
EP3561075A1 (en) 2014-04-21 2019-10-30 Natera, Inc. Detecting mutations in tumour biopsies and cell-free samples
EP3656875B1 (en) * 2014-07-18 2021-09-22 Illumina, Inc. Non-invasive prenatal diagnosis
US20160026759A1 (en) * 2014-07-22 2016-01-28 Yourgene Bioscience Detecting Chromosomal Aneuploidy
AU2015292311B2 (en) 2014-07-25 2022-01-20 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
EP3760739A1 (en) 2014-07-30 2021-01-06 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
CN104182655B (zh) * 2014-09-01 2017-03-08 上海美吉生物医药科技有限公司 一种判断胎儿基因型的方法
CN104232778B (zh) * 2014-09-19 2016-08-17 天津华大基因科技有限公司 同时确定胎儿单体型及染色体非整倍性的方法及装置
US10612080B2 (en) * 2014-09-22 2020-04-07 Roche Molecular Systems, Inc. Digital PCR for non-invasive prenatal testing
EP4026913A1 (en) 2014-10-30 2022-07-13 Personalis, Inc. Methods for using mosaicism in nucleic acids sampled distal to their origin
CN105648045B (zh) * 2014-11-13 2019-10-11 天津华大基因科技有限公司 确定胎儿目标区域单体型的方法和装置
CN105648044B (zh) * 2014-11-13 2019-10-11 天津华大基因科技有限公司 确定胎儿目标区域单体型的方法和装置
CN104561309B (zh) * 2015-01-04 2017-04-19 北京积水潭医院 一种来自人辅助生殖囊胚植入前进行出生安全性预测的试剂盒
CN104561311B (zh) * 2015-01-04 2016-08-17 北京大学第三医院 一种来自人辅助生殖胚胎发育早期出生安全性预测的试剂盒
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
WO2016112539A1 (zh) * 2015-01-16 2016-07-21 深圳华大基因股份有限公司 确定胎儿核酸含量的方法和装置
KR20170125044A (ko) * 2015-02-10 2017-11-13 더 차이니즈 유니버시티 오브 홍콩 암 스크리닝 및 태아 분석을 위한 돌연변이 검출법
US10424396B2 (en) * 2015-03-27 2019-09-24 Sentieon Inc. Computation pipeline of location-dependent variant calls
EP3294906B1 (en) 2015-05-11 2024-07-10 Natera, Inc. Methods for determining ploidy
JP6873921B2 (ja) * 2015-05-18 2021-05-19 カリウス・インコーポレイテッド 核酸の集団を濃縮するための組成物および方法
CN107922959A (zh) * 2015-07-02 2018-04-17 阿瑞玛基因组学公司 混合物样品的精确分子去卷积
HUE059407T2 (hu) 2015-07-20 2022-11-28 Univ Hong Kong Chinese Szövetekben lévõ haplotípusok metilációs mintázatelemzése DNS-keverékekben
DK3325664T3 (da) 2015-07-23 2022-03-07 Univ Hong Kong Chinese Analyse af fragmenteringsmønstre for cellefrit DNA
IL285795B (en) 2015-08-12 2022-07-01 Univ Hong Kong Chinese Sequencing a single molecule of DNA. plasma
TW202300654A (zh) 2015-09-22 2023-01-01 香港中文大學 藉由母體血漿ｄｎａ之淺深度測序以準確定量胎兒dna含量
GB201518665D0 (en) 2015-10-21 2015-12-02 Singapore Volition Pte Ltd Method for enrichment of cell free nucleosomes
CN105335625B (zh) * 2015-11-04 2018-02-16 和卓生物科技（上海）有限公司 胚胎植入前的遗传学检测装置
CN105926043B (zh) * 2016-04-19 2018-08-28 苏州贝康医疗器械有限公司 一种提高孕妇血浆游离dna测序文库中胎儿游离dna占比的方法
US20170321270A1 (en) * 2016-05-06 2017-11-09 Counsyl, Inc. Noninvasive prenatal diagnostic methods
US11299783B2 (en) 2016-05-27 2022-04-12 Personalis, Inc. Methods and systems for genetic analysis
WO2018003220A1 (ja) * 2016-06-29 2018-01-04 トヨタ自動車株式会社 Ｄｎａライブラリーの作製方法及びｄｎａライブラリーを用いたゲノムｄｎａ解析方法
EP3491560A1 (en) 2016-07-27 2019-06-05 Sequenom, Inc. Genetic copy number alteration classifications
CA3037366A1 (en) 2016-09-29 2018-04-05 Myriad Women's Health, Inc. Noninvasive prenatal screening using dynamic iterative depth optimization
WO2018067517A1 (en) 2016-10-04 2018-04-12 Natera, Inc. Methods for characterizing copy number variation using proximity-litigation sequencing
AU2017347790B2 (en) 2016-10-24 2024-06-13 Grail, Inc. Methods and systems for tumor detection
TWI675918B (zh) * 2016-11-18 2019-11-01 香港中文大學 基於單倍型之通用非侵入性單基因疾病產前檢測
US10011870B2 (en) 2016-12-07 2018-07-03 Natera, Inc. Compositions and methods for identifying nucleic acid molecules
US11694768B2 (en) 2017-01-24 2023-07-04 Sequenom, Inc. Methods and processes for assessment of genetic variations
CA3051509A1 (en) 2017-01-25 2018-08-02 The Chinese University Of Hong Kong Diagnostic applications using nucleic acid fragments
EP3585889A1 (en) 2017-02-21 2020-01-01 Natera, Inc. Compositions, methods, and kits for isolating nucleic acids
EP3602359A4 (en) 2017-03-24 2021-01-06 Myriad Women's Health, Inc. NUMBER OF COPIES VARIANT CALLER
EP3622660B1 (en) * 2017-05-12 2023-08-30 Massachusetts Institute of Technology Systems and methods for crowdsourcing, analyzing, and/or matching personal data
KR102145417B1 (ko) * 2017-05-24 2020-08-19 지니너스 주식회사 무세포 핵산으로부터 수득된 서열 분석 데이터에 대한 배경 대립인자의 빈도 분포를 생성하는 방법 및 이를 이용하여 무세포 핵산으로부터 변이를 검출하는 방법
WO2019010410A1 (en) * 2017-07-07 2019-01-10 Massachusetts Institute Of Technology SYSTEMS AND METHODS OF GENETIC IDENTIFICATION AND ANALYSIS
AU2018300157A1 (en) * 2017-07-12 2020-02-27 Ande Corporation Pattern recognition system
CN109280697B (zh) * 2017-07-20 2022-04-26 天昊生物医药科技（苏州）有限公司 利用孕妇血浆游离dna进行胎儿基因型鉴定的方法
US11519024B2 (en) 2017-08-04 2022-12-06 Billiontoone, Inc. Homologous genomic regions for characterization associated with biological targets
US11646100B2 (en) 2017-08-04 2023-05-09 Billiontoone, Inc. Target-associated molecules for characterization associated with biological targets
AU2018312117B2 (en) 2017-08-04 2022-05-12 Billiontoone, Inc. Sequencing output determination and analysis with target-associated molecules in quantification associated with biological targets
CN107545153B (zh) * 2017-10-25 2021-06-11 桂林电子科技大学 一种基于卷积神经网络的核小体分类预测方法
JP2021506342A (ja) 2017-12-14 2021-02-22 ティーエーアイ ダイアグノスティックス インコーポレイテッドＴａｉ Ｄｉａｇｎｏｓｔｉｃｓ，Ｉｎｃ． 移植のための移植片適合性の評価
JP7047373B2 (ja) 2017-12-25 2022-04-05 トヨタ自動車株式会社 次世代シーケンサー用プライマー並びにその製造方法、次世代シーケンサー用プライマーを用いたｄｎａライブラリー並びにその製造方法、及びｄｎａライブラリーを用いたゲノムｄｎａ解析方法
PT3735470T (pt) 2018-01-05 2024-01-31 Billiontoone Inc Modelos de controlo de qualidade para garantir a validade dos ensaios baseados em sequenciamento
CA3090426A1 (en) 2018-04-14 2019-10-17 Natera, Inc. Methods for cancer detection and monitoring by means of personalized detection of circulating tumor dna
CA3105349A1 (en) 2018-05-03 2019-11-07 The Chinese University Of Hong Kong Size-tagged preferred ends and orientation-aware analysis for measuring properties of cell-free mixtures
US11814750B2 (en) 2018-05-31 2023-11-14 Personalis, Inc. Compositions, methods and systems for processing or analyzing multi-species nucleic acid samples
US10801064B2 (en) * 2018-05-31 2020-10-13 Personalis, Inc. Compositions, methods and systems for processing or analyzing multi-species nucleic acid samples
US11525159B2 (en) 2018-07-03 2022-12-13 Natera, Inc. Methods for detection of donor-derived cell-free DNA
CN113227396A (zh) 2018-08-06 2021-08-06 十亿至一公司 用于定量生物靶的稀释标签
US20210340601A1 (en) * 2018-09-03 2021-11-04 Ramot At Tel-Aviv University Ltd. Method and system for identifying gene disorder in maternal blood
AU2019336239A1 (en) * 2018-09-07 2021-03-25 Illumina Cambridge Limited A method to determine if a circulating fetal cell isolated from a pregnant mother is from either the current or a historical pregnancy
EP3899030A2 (en) 2018-12-17 2021-10-27 Natera, Inc. Methods for analysis of circulating cells
CN109887548B (zh) * 2019-01-18 2022-11-08 臻悦生物科技江苏有限公司 基于捕获测序的ctDNA占比的检测方法及检测装置
CN111560424A (zh) * 2019-02-13 2020-08-21 广州医科大学附属第一医院 可检测的目标核酸、探针、确定胎儿f8基因单体型的方法及应用
WO2020192680A1 (en) 2019-03-25 2020-10-01 The Chinese University Of Hong Kong Determining linear and circular forms of circulating nucleic acids
CN113692448A (zh) * 2019-04-22 2021-11-23 私人基因诊断公司 用于遗传分析的方法和系统
CA3147888A1 (en) 2019-07-19 2021-01-28 23Andme, Inc. Phase-aware determination of identity-by-descent dna segments
HUE061561T2 (hu) * 2019-08-14 2023-07-28 Bgi Genomics Co Ltd Eljárás és berendezés magzati nukleinsav-koncentráció meghatározására várandós nõ vérében
EP4357461A3 (en) 2019-08-16 2024-07-03 The Chinese University Of Hong Kong Determination of base modifications of nucleic acids
CN112466397A (zh) * 2019-09-09 2021-03-09 深圳乐土生物科技有限公司 一种用于亲缘关系检测的方法和装置
WO2021155831A1 (en) * 2020-02-05 2021-08-12 The Chinese University Of Hong Kong Molecular analyses using long cell-free fragments in pregnancy
CN111312332B (zh) * 2020-02-13 2020-10-30 国家卫生健康委科学技术研究所 基于hla基因的生物信息处理方法、装置及终端
US11817176B2 (en) 2020-08-13 2023-11-14 23Andme, Inc. Ancestry composition determination
US20230307130A1 (en) * 2020-11-08 2023-09-28 The Johns Hopkins University Methods and related aspects for analyzing chromosome number status
CN112575077A (zh) * 2020-12-23 2021-03-30 东莞市妇幼保健院 一种胎儿显性遗传病新发突变的无创基因检测方法及应用
BR112023021616A2 (pt) 2021-04-22 2024-01-16 Natera Inc Métodos para determinar a velocidade de crescimento do tumor
AU2022323972A1 (en) 2021-08-02 2024-01-25 Natera, Inc. Methods for detecting neoplasm in pregnant women
WO2023133131A1 (en) 2022-01-04 2023-07-13 Natera, Inc. Methods for cancer detection and monitoring
WO2023183812A2 (en) 2022-03-21 2023-09-28 Billion Toone, Inc. Molecule counting of methylated cell-free dna for treatment monitoring

Family Cites Families (28)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
GB9704444D0 (en) 1997-03-04 1997-04-23 Isis Innovation Non-invasive prenatal diagnosis
US6664056B2 (en) * 2000-10-17 2003-12-16 The Chinese University Of Hong Kong Non-invasive prenatal monitoring
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
NZ535044A (en) 2002-03-01 2008-12-24 Ravgen Inc Non-invasive method to determine the genetic sequence of foetal DNA from a sample from a pregnant female thereby detecting any alternation in gene sequence as compared with the wild type sequence
US6977162B2 (en) * 2002-03-01 2005-12-20 Ravgen, Inc. Rapid analysis of variations in a genome
RU2200761C1 (ru) 2002-04-01 2003-03-20 Московский НИИ педиатрии и детской хирургии Набор рекомбинантных плазмидных днк рyai 11-19, рyai 2-45, рys 37 и рyai 7-29 для определения происхождения добавочных или маркерных (мини-) хромосом человека
US20070178478A1 (en) 2002-05-08 2007-08-02 Dhallan Ravinder S Methods for detection of genetic disorders
US7727720B2 (en) 2002-05-08 2010-06-01 Ravgen, Inc. Methods for detection of genetic disorders
AU2003268333A1 (en) 2003-02-28 2004-09-28 Ravgen, Inc. Methods for detection of genetic disorders
AU2004217872B2 (en) * 2003-03-05 2010-03-25 Genetic Technologies Limited Identification of fetal DNA and fetal cell markers in maternal plasma or serum
DE60328193D1 (de) 2003-10-16 2009-08-13 Sequenom Inc Nicht invasiver Nachweis fötaler genetischer Merkmale
JP5219516B2 (ja) 2005-03-18 2013-06-26 ザ チャイニーズ ユニバーシティー オブ ホンコン 染色体異数性の検出方法
US20070122823A1 (en) 2005-09-01 2007-05-31 Bianchi Diana W Amniotic fluid cell-free fetal DNA fragment size pattern for prenatal diagnosis
GB0523276D0 (en) 2005-11-15 2005-12-21 London Bridge Fertility Chromosomal analysis by molecular karyotyping
ES2739483T3 (es) 2006-02-02 2020-01-31 Univ Leland Stanford Junior Detección genética fetal no invasiva mediante análisis digital
DK2351858T3 (da) * 2006-02-28 2015-04-07 Univ Louisville Res Found Påvisning af føtale kromosomabnormiteter ved anvendelse af tandem-enkeltnukleotid-polymorfismer
US20080070792A1 (en) 2006-06-14 2008-03-20 Roland Stoughton Use of highly parallel snp genotyping for fetal diagnosis
US20100112590A1 (en) 2007-07-23 2010-05-06 The Chinese University Of Hong Kong Diagnosing Fetal Chromosomal Aneuploidy Using Genomic Sequencing With Enrichment
EA035451B9 (ru) 2007-07-23 2020-09-09 Те Чайниз Юниверсити Ов Гонконг Способ диагностики рака с использованием геномного секвенирования
ES2620431T3 (es) 2008-08-04 2017-06-28 Natera, Inc. Métodos para la determinación de alelos y de ploidía
US9051602B2 (en) 2008-12-22 2015-06-09 Celula, Inc. Methods and genotyping panels for detecting alleles, genomes, and transcriptomes
CA2779695C (en) 2009-11-05 2016-05-24 The Chinese University Of Hong Kong Fetal genomic analysis from a maternal biological sample
EP4212630A1 (en) 2009-11-06 2023-07-19 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
EP2854058A3 (en) 2010-05-18 2015-10-28 Natera, Inc. Methods for non-invasive pre-natal ploidy calling
US20120190021A1 (en) 2011-01-25 2012-07-26 Aria Diagnostics, Inc. Detection of genetic abnormalities
EP3489368B1 (en) 2011-02-24 2020-09-09 The Chinese University Of Hong Kong Molecular testing of multiple pregnancies
EA201500939A1 (ru) 2013-03-15 2016-01-29 Те Чайниз Юниверсити Ов Гонконг Определение геномов плодов при многоплодных беременностях

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