JP5540105B2 - 母親生物試料の胎児ゲノム分析 - Google Patents

母親生物試料の胎児ゲノム分析 Download PDF

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JP5540105B2
JP5540105B2 JP2012538035A JP2012538035A JP5540105B2 JP 5540105 B2 JP5540105 B2 JP 5540105B2 JP 2012538035 A JP2012538035 A JP 2012538035A JP 2012538035 A JP2012538035 A JP 2012538035A JP 5540105 B2 JP5540105 B2 JP 5540105B2
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genome
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JP2013509884A (ja
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ミン デニス ロ ユク
クワン チー チャン
クウン ロッサ チウ ワイ
カンター チャールズ
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Chinese University of Hong Kong CUHK
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    • 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
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    • G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
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    • 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
    • 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
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    • 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
    • C12Q2600/154—Methylation markers
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    • G16B30/00—ICT specially adapted for sequence analysis involving nucleotides or amino acids
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    • Y10T436/00—Chemistry: analytical and immunological testing
    • Y10T436/14—Heterocyclic carbon compound [i.e., O, S, N, Se, Te, as only ring hetero atom]
    • Y10T436/142222—Hetero-O [e.g., ascorbic acid, etc.]
    • Y10T436/143333—Saccharide [e.g., DNA, etc.]

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JP2012538035A 2009-11-05 2010-11-05 母親生物試料の胎児ゲノム分析 Active JP5540105B2 (ja)

Applications Claiming Priority (7)

Application Number Priority Date Filing Date Title
US25856709P 2009-11-05 2009-11-05
US61/258,567 2009-11-05
US25907509P 2009-11-06 2009-11-06
US61/259,075 2009-11-06
US38185410P 2010-09-10 2010-09-10
US61/381,854 2010-09-10
PCT/US2010/055655 WO2011057094A1 (en) 2009-11-05 2010-11-05 Fetal genomic analysis from a maternal biological sample

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JP2013509884A JP2013509884A (ja) 2013-03-21
JP2013509884A5 JP2013509884A5 (https=) 2013-11-07
JP5540105B2 true JP5540105B2 (ja) 2014-07-02

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JP2012538035A Active JP5540105B2 (ja) 2009-11-05 2010-11-05 母親生物試料の胎児ゲノム分析
JP2014094667A Active JP6023117B2 (ja) 2009-11-05 2014-05-01 母親生物試料の胎児ゲノム分析
JP2016117179A Active JP6386494B2 (ja) 2009-11-05 2016-06-13 母親生物試料の胎児ゲノム分析

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JP2016117179A Active JP6386494B2 (ja) 2009-11-05 2016-06-13 母親生物試料の胎児ゲノム分析

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EP (5) EP2496717B1 (https=)
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CN (2) CN105779280B (https=)
AU (1) AU2010315037B9 (https=)
BR (1) BR112012010694B8 (https=)
CA (1) CA2779695C (https=)
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DK (3) DK2496717T3 (https=)
EA (1) EA033752B1 (https=)
ES (3) ES2934941T3 (https=)
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HR (2) HRP20230134T1 (https=)
HU (3) HUE043574T2 (https=)
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PL (3) PL3783110T3 (https=)
PT (3) PT2496717T (https=)
RS (2) RS63944B1 (https=)
SI (2) SI3783110T1 (https=)
SM (2) SMT201900229T1 (https=)
TW (1) TWI458976B (https=)
WO (1) WO2011057094A1 (https=)

Families Citing this family (214)

* 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
US11111544B2 (en) 2005-07-29 2021-09-07 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
US10083273B2 (en) 2005-07-29 2018-09-25 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
US11111543B2 (en) 2005-07-29 2021-09-07 Natera, Inc. System and method for cleaning noisy genetic data and determining chromosome copy number
EP2351858B1 (en) 2006-02-28 2014-12-31 University of Louisville Research Foundation Detecting fetal chromosomal abnormalities using tandem single nucleotide polymorphisms
US8609338B2 (en) 2006-02-28 2013-12-17 University Of Louisville Research Foundation, Inc. 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
WO2007147074A2 (en) 2006-06-14 2007-12-21 Living Microsystems, Inc. Use of highly parallel snp genotyping for fetal diagnosis
WO2009105531A1 (en) * 2008-02-19 2009-08-27 Gene Security Network, Inc. Methods for cell genotyping
CA2717320A1 (en) * 2008-03-11 2009-09-17 Sequenom, Inc. Nucleic acid-based tests for prenatal gender determination
US20110092763A1 (en) * 2008-05-27 2011-04-21 Gene Security Network, Inc. Methods for Embryo Characterization and Comparison
CN102171565B (zh) 2008-08-04 2015-04-29 纳特拉公司 等位基因调用和倍性调用的方法
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
US9524369B2 (en) 2009-06-15 2016-12-20 Complete Genomics, Inc. Processing and analysis of complex nucleic acid sequence data
US20120185176A1 (en) 2009-09-30 2012-07-19 Natera, Inc. Methods for Non-Invasive Prenatal Ploidy Calling
LT3783110T (lt) 2009-11-05 2023-01-25 The Chinese University Of Hong Kong Vaisiaus genomo analizė iš motinos biologinio mėginio
JP2013511991A (ja) * 2009-11-25 2013-04-11 クアンタライフ， インコーポレイテッド 遺伝子材料を検出する方法および組成物
EP3088532B1 (en) 2009-12-22 2019-10-30 Sequenom, Inc. Processes and kits for identifying aneuploidy
US20120010085A1 (en) 2010-01-19 2012-01-12 Rava Richard P Methods for determining fraction of fetal nucleic acids in maternal samples
EP2526415B1 (en) 2010-01-19 2017-05-03 Verinata Health, Inc Partition defined detection methods
US20120100548A1 (en) 2010-10-26 2012-04-26 Verinata Health, Inc. Method for determining copy number variations
US10388403B2 (en) 2010-01-19 2019-08-20 Verinata Health, Inc. Analyzing copy number variation in the detection of cancer
ES2534758T3 (es) 2010-01-19 2015-04-28 Verinata Health, Inc. Métodos de secuenciación en diagnósticos prenatales
CA2786564A1 (en) 2010-01-19 2011-07-28 Verinata Health, Inc. Identification of polymorphic sequences in mixtures of genomic dna by whole genome sequencing
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
US20110312503A1 (en) 2010-01-23 2011-12-22 Artemis Health, Inc. Methods of fetal abnormality detection
US10316362B2 (en) 2010-05-18 2019-06-11 Natera, Inc. Methods for simultaneous amplification of target loci
US12545960B2 (en) 2010-05-18 2026-02-10 Natera, Inc. Methods for simultaneous amplification of target loci
EP2572003A4 (en) 2010-05-18 2016-01-13 Natera Inc METHOD FOR NONINVASIVE PRANATAL PLOIDIE ASSIGNMENT
US11408031B2 (en) 2010-05-18 2022-08-09 Natera, Inc. Methods for non-invasive prenatal paternity testing
US11322224B2 (en) * 2010-05-18 2022-05-03 Natera, Inc. Methods for non-invasive prenatal ploidy calling
US12152275B2 (en) 2010-05-18 2024-11-26 Natera, Inc. Methods for non-invasive prenatal ploidy calling
US11939634B2 (en) 2010-05-18 2024-03-26 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
US9677118B2 (en) 2014-04-21 2017-06-13 Natera, Inc. Methods for simultaneous amplification of target loci
US20190010543A1 (en) 2010-05-18 2019-01-10 Natera, Inc. Methods for simultaneous amplification of target loci
US11326208B2 (en) 2010-05-18 2022-05-10 Natera, Inc. Methods for nested PCR amplification of cell-free DNA
US11332793B2 (en) 2010-05-18 2022-05-17 Natera, Inc. Methods for simultaneous amplification of target loci
US12221653B2 (en) 2010-05-18 2025-02-11 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
CN103069006A (zh) * 2010-07-23 2013-04-24 艾索特里克斯遗传实验室有限责任公司 区别表达的胚胎或母源基因组区的鉴定及其用途
US11031095B2 (en) * 2010-08-06 2021-06-08 Ariosa Diagnostics, Inc. Assay systems for determination of fetal copy number variation
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
US20140342940A1 (en) 2011-01-25 2014-11-20 Ariosa Diagnostics, Inc. Detection of Target Nucleic Acids using Hybridization
US10167508B2 (en) 2010-08-06 2019-01-01 Ariosa Diagnostics, Inc. Detection of genetic abnormalities
US11203786B2 (en) 2010-08-06 2021-12-21 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
US20120034603A1 (en) 2010-08-06 2012-02-09 Tandem Diagnostics, Inc. Ligation-based detection of genetic variants
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.
WO2012078792A2 (en) * 2010-12-07 2012-06-14 Stanford University Non-invasive determination of fetal inheritance of parental haplotypes at the genome-wide scale
WO2012088456A2 (en) 2010-12-22 2012-06-28 Natera, Inc. Methods for non-invasive prenatal paternity testing
US8756020B2 (en) * 2011-01-25 2014-06-17 Ariosa Diagnostics, Inc. Enhanced risk probabilities using biomolecule estimations
WO2012103031A2 (en) * 2011-01-25 2012-08-02 Ariosa Diagnostics, Inc. Detection of genetic abnormalities
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
US10131947B2 (en) 2011-01-25 2018-11-20 Ariosa Diagnostics, Inc. Noninvasive detection of fetal aneuploidy in egg donor pregnancies
AU2011358564B9 (en) 2011-02-09 2017-07-13 Natera, Inc Methods for non-invasive prenatal ploidy calling
AU2012214312A1 (en) 2011-02-09 2013-08-22 Bio-Rad Laboratories, Inc. Analysis of nucleic acids
EP2860265B1 (en) 2011-02-24 2016-10-26 The Chinese University of Hong Kong Determining fetal DNA percentage for twins
CN103797129B (zh) * 2011-04-12 2016-08-17 维里纳塔健康公司 使用多态计数来解析基因组分数
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
US20140235474A1 (en) 2011-06-24 2014-08-21 Sequenom, Inc. Methods and processes for non invasive assessment of a genetic variation
US8880456B2 (en) 2011-08-25 2014-11-04 Complete Genomics, Inc. Analyzing genome sequencing information to determine likelihood of co-segregating alleles on 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
CA2850785C (en) 2011-10-06 2022-12-13 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
US9984198B2 (en) 2011-10-06 2018-05-29 Sequenom, Inc. Reducing sequence read count error in assessment of complex genetic variations
WO2013109981A1 (en) 2012-01-20 2013-07-25 Sequenom, Inc. Diagnostic processes that factor experimental conditions
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
HK1206055A1 (en) * 2012-03-02 2015-12-31 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
JP6411995B2 (ja) 2012-03-13 2018-10-24 ザ チャイニーズ ユニバーシティー オブ ホンコン 非侵襲的出生前診断のために大量並列シークエンシング・データを分析する方法
PL2851431T3 (pl) 2012-05-14 2018-04-30 Bgi Genomics Co., Ltd. Sposób, system i odczytywalny komputerowo nośnik do określania informacji o zasadach we wcześniej określonym obszarze genomu płodu
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
US10289800B2 (en) 2012-05-21 2019-05-14 Ariosa Diagnostics, Inc. Processes for calculating phased fetal genomic sequences
US20150105267A1 (en) * 2012-05-24 2015-04-16 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
CN110777195A (zh) * 2012-07-13 2020-02-11 生命技术公司 采用一组snp的人身份识别
JP2015522293A (ja) 2012-07-19 2015-08-06 アリオサ ダイアグノスティックス インコーポレイテッドＡｒｉｏｓａ Ｄｉａｇｎｏｓｔｉｃｓ，Ｉｎｃ． 多重化連続ライゲーションに基づく遺伝子変異体の検出
US20140100126A1 (en) 2012-08-17 2014-04-10 Natera, Inc. Method for Non-Invasive Prenatal Testing Using Parental Mosaicism Data
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
BR122021021823B1 (pt) * 2012-09-20 2023-04-25 The Chinese University Of Hong Kong Método para determinar um primeiro perfil de metilação de uma amostra biológica de um organismo, e, meio de armazenamento de memória
US10706957B2 (en) 2012-09-20 2020-07-07 The Chinese University Of Hong Kong Non-invasive determination of methylome of tumor from plasma
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
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
US9977708B1 (en) 2012-11-08 2018-05-22 23Andme, Inc. Error correction in ancestry classification
US10643738B2 (en) * 2013-01-10 2020-05-05 The Chinese University Of Hong Kong Noninvasive prenatal molecular karyotyping from maternal plasma
CN105190656B (zh) 2013-01-17 2018-01-16 佩索纳里斯公司 用于遗传分析的方法和系统
US20130309666A1 (en) 2013-01-25 2013-11-21 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
JP6525894B2 (ja) 2013-02-28 2019-06-05 ザ チャイニーズ ユニバーシティ オブ ホンコン 超並列ｒｎａ配列決定による母体血漿のトランスクリプトーム解析
HK1216655A1 (zh) 2013-03-13 2016-11-25 Sequenom, Inc. 用於dna甲基化分析的引物
TWI637058B (zh) * 2013-03-15 2018-10-01 香港中文大學 測定多胞胎妊娠之胎兒基因組
PL2981921T3 (pl) 2013-04-03 2023-05-08 Sequenom, Inc. Metody i procesy nieinwazyjnej oceny zmienności genetycznych
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
EP4604127A3 (en) 2013-05-24 2025-12-03 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
HUE042654T2 (hu) 2013-06-21 2019-07-29 Sequenom Inc Eljárás genetikai variációk nem-invazív megállapítására
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
US10262755B2 (en) 2014-04-21 2019-04-16 Natera, Inc. Detecting cancer mutations and aneuploidy in chromosomal segments
US9499870B2 (en) * 2013-09-27 2016-11-22 Natera, Inc. Cell free DNA diagnostic testing standards
US10577655B2 (en) 2013-09-27 2020-03-03 Natera, Inc. Cell free DNA diagnostic testing standards
GB2535066A (en) 2013-10-03 2016-08-10 Personalis Inc Methods for analyzing genotypes
IL304949B2 (en) 2013-10-04 2025-09-01 Sequenom Inc Methods and processes for non-invasive assessment of genetic variations
EP3495496B1 (en) 2013-10-07 2020-11-25 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
US12492429B2 (en) 2014-04-21 2025-12-09 Natera, Inc. Detecting mutations and ploidy in chromosomal segments
EP3957749A1 (en) 2014-04-21 2022-02-23 Natera, Inc. Detecting tumour specific mutations in biopsies with whole exome sequencing and in cell-free samples
US20180173845A1 (en) 2014-06-05 2018-06-21 Natera, Inc. Systems and Methods for Detection of Aneuploidy
WO2016011414A1 (en) * 2014-07-18 2016-01-21 Illumina, Inc. Non-invasive prenatal diagnosis of fetal genetic condition using cellular dna and cell free dna
US20160026759A1 (en) * 2014-07-22 2016-01-28 Yourgene Bioscience Detecting Chromosomal Aneuploidy
CN107002122B (zh) 2014-07-25 2023-09-19 华盛顿大学 确定导致无细胞dna的产生的组织和/或细胞类型的方法以及使用其鉴定疾病或紊乱的方法
WO2016019042A1 (en) 2014-07-30 2016-02-04 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
US10125399B2 (en) 2014-10-30 2018-11-13 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
CN107109324B (zh) * 2015-01-16 2019-11-08 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
EP3256605B1 (en) * 2015-02-10 2022-02-09 The Chinese University Of Hong Kong Detecting mutations for cancer screening and fetal analysis
CN106021992A (zh) * 2015-03-27 2016-10-12 知源生信公司（美国硅谷） 位置相关变体识别计算流水线
WO2016183106A1 (en) 2015-05-11 2016-11-17 Natera, Inc. Methods and compositions for determining ploidy
CN107922971A (zh) 2015-05-18 2018-04-17 凯锐思公司 用于富集核酸群体的组合物和方法
WO2017004612A1 (en) * 2015-07-02 2017-01-05 Arima Genomics, Inc. Accurate molecular deconvolution of mixtures samples
EP4063517B1 (en) * 2015-07-20 2026-01-07 The Chinese University Of Hong Kong Methylation pattern analysis of haplotypes in cell-free dna mixtures of maternal and fetal dna
IL305462A (en) 2015-07-23 2023-10-01 Univ Hong Kong Chinese DNA fragmentation pattern analysis suitable clean
CA2995422A1 (en) 2015-08-12 2017-02-16 The Chinese University Of Hong Kong Single-molecule sequencing of plasma dna
CN108026576B (zh) * 2015-09-22 2022-06-28 香港中文大学 通过母亲血浆dna的浅深度测序准确定量胎儿dna分数
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
WO2017181202A2 (en) 2016-04-15 2017-10-19 Natera, Inc. Methods for lung cancer detection
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
WO2017193044A1 (en) * 2016-05-06 2017-11-09 Counsyl, Inc. Noninvasive prenatal diagnostic
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
US11200963B2 (en) 2016-07-27 2021-12-14 Sequenom, Inc. Genetic copy number alteration classifications
EP3518974A4 (en) 2016-09-29 2020-05-27 Myriad Women's Health, Inc. NON-INVASIVE PRENATAL SCREENING USING DYNAMIC ITERATIVE DEEP OPTIMIZATION
US11485996B2 (en) 2016-10-04 2022-11-01 Natera, Inc. Methods for characterizing copy number variation using proximity-litigation sequencing
TWI797095B (zh) 2016-10-24 2023-04-01 美商格瑞爾有限責任公司 腫瘤檢測之方法及系統
GB201618485D0 (en) 2016-11-02 2016-12-14 Ucl Business Plc Method of detecting tumour recurrence
CN109996894A (zh) * 2016-11-18 2019-07-09 香港中文大学 用于单基因疾病的基于通用单倍型的非侵入性产前测试
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
EP4421489B1 (en) 2017-01-25 2026-03-11 The Chinese University of Hong Kong Diagnostic applications using nucleic acid fragments
US10894976B2 (en) 2017-02-21 2021-01-19 Natera, Inc. Compositions, methods, and kits for isolating nucleic acids
JP7370862B2 (ja) 2017-03-17 2023-10-30 セクエノム， インコーポレイテッド 遺伝子モザイク症のための方法およびプロセス
EP3602359A4 (en) 2017-03-24 2021-01-06 Myriad Women's Health, Inc. COPY NUMBER 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
JP7056012B2 (ja) 2017-05-19 2022-04-19 トヨタ自動車株式会社 ランダムプライマーセット、及びこれを用いたｄｎａライブラリーの作製方法
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
US11655498B2 (en) * 2017-07-07 2023-05-23 Massachusetts Institute Of Technology Systems and methods for genetic identification and analysis
EP3652740A2 (en) * 2017-07-12 2020-05-20 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
IL316163A (en) 2017-07-26 2024-12-01 Univ Hong Kong Chinese Enhancement of cancer screening using cell-free viral nucleic acids
US11519024B2 (en) 2017-08-04 2022-12-06 Billiontoone, Inc. Homologous genomic regions for characterization associated with biological targets
US11430543B2 (en) 2017-08-04 2022-08-30 Billiontoone, Inc. Sequencing output determination and analysis with target-associated molecules in quantification associated with biological targets
EP3662480A4 (en) 2017-08-04 2021-05-19 BillionToOne, Inc. MOLECULES ASSOCIATED WITH A TARGET FOR A CHARACTERIZATION 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
ES2970286T3 (es) 2018-01-05 2024-05-27 Billiontoone Inc Plantillas de control de calidad para garantizar la validez de ensayos basados en secuenciación
US12398389B2 (en) 2018-02-15 2025-08-26 Natera, Inc. Methods for isolating nucleic acids with size selection
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
KR20210014111A (ko) 2018-05-03 2021-02-08 더 차이니즈 유니버시티 오브 홍콩 세포-무함유 혼합물의 특성을 측정하기 위한 크기-태깅된 바람직한 말단 및 배향-인지 분석
US10801064B2 (en) * 2018-05-31 2020-10-13 Personalis, Inc. Compositions, methods and systems for processing or analyzing multi-species nucleic acid samples
US11814750B2 (en) 2018-05-31 2023-11-14 Personalis, Inc. Compositions, methods and systems for processing or analyzing multi-species nucleic acid samples
US12234509B2 (en) 2018-07-03 2025-02-25 Natera, Inc. Methods for detection of donor-derived cell-free DNA
US12071651B2 (en) 2018-08-06 2024-08-27 Billiontoone, Inc. Dilution tagging for quantification of biological targets
US20210340601A1 (en) * 2018-09-03 2021-11-04 Ramot At Tel-Aviv University Ltd. Method and system for identifying gene disorder in maternal blood
CN112955960B (zh) * 2018-09-07 2024-08-16 Illumina公司 确定从怀孕母体分离的循环胎儿细胞来自当前妊娠或过往妊娠的方法
CA3123847A1 (en) 2018-12-17 2020-06-25 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
BR112021020684A2 (pt) * 2019-04-22 2021-12-07 Personal Genome Diagnostics Inc Métodos e sistemas para análise genética
EP3980559A1 (en) 2019-06-06 2022-04-13 Natera, Inc. Methods for detecting immune cell dna and monitoring immune system
CA3147888A1 (en) 2019-07-19 2021-01-28 23Andme, Inc. Phase-aware determination of identity-by-descent dna segments
EP3916105B1 (en) * 2019-08-14 2023-01-25 BGI Genomics Co., Limited Method and device for determining fetal nucleic acid concentration in blood of pregnant woman
TWI752593B (zh) 2019-08-16 2022-01-11 香港中文大學 核酸鹼基修飾的測定
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
EP4055610A4 (en) 2019-11-05 2023-11-29 Personalis, Inc. ESTIMATION OF TUMOR PURITY FROM SINGLE SAMPLES
CN115004304A (zh) * 2019-11-18 2022-09-02 伊姆巴克兽医公司 确定祖先亲缘关系的方法和系统
BR112022015073A2 (pt) 2020-02-05 2022-11-16 Univ Hong Kong Chinese Método de análise de uma amostra biológica, produto de programa de computador, mídia de armazenamento, e, sistema de computação
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
US12322509B2 (en) * 2020-11-08 2025-06-03 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
WO2023014597A1 (en) 2021-08-02 2023-02-09 Natera, Inc. Methods for detecting neoplasm in pregnant women
EP4413580A4 (en) 2021-10-05 2025-08-13 Personalis Inc PERSONALIZED TESTS FOR PERSONALIZED CANCER MONITORING
CN119032182A (zh) 2022-01-04 2024-11-26 纳特拉公司 用于癌症检测和监测的方法
JP2025509878A (ja) 2022-03-21 2025-04-11 ビリオントゥーワン，インコーポレイテッド 処置モニタリングのためのメチル化セルフリーｄｎａの分子計数
WO2025208288A1 (zh) * 2024-04-01 2025-10-09 深圳华大生命科学研究院 基因预测方法、装置、计算机设备及计算机可读存储介质
CN119007813B (zh) * 2024-09-29 2025-11-07 漳州片仔癀药业股份有限公司 一种基于mtDNA的高海拔饲养林麝的种源鉴定及遴选方法
CN120412715B (zh) * 2025-03-17 2025-11-28 上海蓝沙生物科技有限公司 一种通过多态性位点连锁区域块评估孕期母本游离血液中胎儿DNA浓度（cffDNA）的方法

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
US6977162B2 (en) * 2002-03-01 2005-12-20 Ravgen, Inc. Rapid analysis of variations in a genome
WO2003074740A1 (en) 2002-03-01 2003-09-12 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
CA2517017A1 (en) 2003-02-28 2004-09-16 Ravgen, Inc. Methods for detection of genetic disorders
WO2004078999A1 (en) * 2003-03-05 2004-09-16 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
CA2601221C (en) 2005-03-18 2013-08-06 The Chinese University Of Hong Kong 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
GB0523276D0 (en) 2005-11-15 2005-12-21 London Bridge Fertility Chromosomal analysis by molecular karyotyping
TR201910868T4 (tr) 2006-02-02 2019-08-21 Univ Leland Stanford Junior Dijital analizle invazif olmayan fetal genetik tarama.
EP2351858B1 (en) * 2006-02-28 2014-12-31 University of Louisville Research Foundation Detecting fetal chromosomal abnormalities using tandem single nucleotide polymorphisms
WO2007147074A2 (en) 2006-06-14 2007-12-21 Living Microsystems, Inc. Use of highly parallel snp genotyping for fetal diagnosis
LT2557517T (lt) * 2007-07-23 2023-01-10 The Chinese University Of Hong Kong Nukleino rūgščių sekos disbalanso nustatymas
US12180549B2 (en) 2007-07-23 2024-12-31 The Chinese University Of Hong Kong Diagnosing fetal chromosomal aneuploidy using genomic sequencing
CN102171565B (zh) 2008-08-04 2015-04-29 纳特拉公司 等位基因调用和倍性调用的方法
CA2748030A1 (en) 2008-12-22 2010-07-01 Arnold R. Oliphant Methods and genotyping panels for detecting alleles, genomes, and transcriptomes
LT3783110T (lt) 2009-11-05 2023-01-25 The Chinese University Of Hong Kong Vaisiaus genomo analizė iš motinos biologinio mėginio
EA034241B1 (ru) 2009-11-06 2020-01-21 Те Чайниз Юниверсити Ов Гонконг Способ пренатальной диагностики дисбаланса последовательности
US9260745B2 (en) 2010-01-19 2016-02-16 Verinata Health, Inc. Detecting and classifying copy number variation
EP2572003A4 (en) 2010-05-18 2016-01-13 Natera Inc METHOD FOR NONINVASIVE PRANATAL PLOIDIE ASSIGNMENT
WO2012103031A2 (en) 2011-01-25 2012-08-02 Ariosa Diagnostics, Inc. Detection of genetic abnormalities
EP2860265B1 (en) 2011-02-24 2016-10-26 The Chinese University of Hong Kong Determining fetal DNA percentage for twins
TWI637058B (zh) 2013-03-15 2018-10-01 香港中文大學 測定多胞胎妊娠之胎兒基因組

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