HUE041411T2 - Genomfrakciók feloldása polimorfizmus-szám alkalmazásával - Google Patents

Genomfrakciók feloldása polimorfizmus-szám alkalmazásával

Info

Publication number
HUE041411T2
HUE041411T2 HUE16158103A HUE16158103A HUE041411T2 HU E041411 T2 HUE041411 T2 HU E041411T2 HU E16158103 A HUE16158103 A HU E16158103A HU E16158103 A HUE16158103 A HU E16158103A HU E041411 T2 HUE041411 T2 HU E041411T2
Authority
HU
Hungary
Prior art keywords
polymorphism
counts
resolving
genome fractions
fractions
Prior art date
Application number
HUE16158103A
Other languages
English (en)
Inventor
Richard P Rava
Brian RHEES
John Burke
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
Family has litigation
First worldwide family litigation filed litigation Critical https://patents.darts-ip.com/?family=46001809&utm_source=google_patent&utm_medium=platform_link&utm_campaign=public_patent_search&patent=HUE041411(T2) "Global patent litigation dataset” by Darts-ip is licensed under a Creative Commons Attribution 4.0 International License.
Application filed by Verinata Health Inc filed Critical Verinata Health Inc
Publication of HUE041411T2 publication Critical patent/HUE041411T2/hu

Links

Classifications

    • GPHYSICS
    • G16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G16B20/20Allele or variant detection, e.g. single nucleotide polymorphism [SNP] detection
    • GPHYSICS
    • G16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B30/00ICT specially adapted for sequence analysis involving nucleotides or amino acids
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING 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
    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6809Methods for determination or identification of nucleic acids involving differential detection
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING 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
    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6813Hybridisation assays
    • C12Q1/6827Hybridisation assays for detection of mutation or polymorphism
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING 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
    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING 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
    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6883Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
    • GPHYSICS
    • G16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • GPHYSICS
    • G16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G16B20/10Ploidy or copy number detection
    • GPHYSICS
    • G16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B30/00ICT specially adapted for sequence analysis involving nucleotides or amino acids
    • G16B30/10Sequence alignment; Homology search
    • GPHYSICS
    • G16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B40/00ICT specially adapted for biostatistics; ICT specially adapted for bioinformatics-related machine learning or data mining, e.g. knowledge discovery or pattern finding
    • GPHYSICS
    • G16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B45/00ICT specially adapted for bioinformatics-related data visualisation, e.g. displaying of maps or networks
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING 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
    • C12Q2600/00Oligonucleotides characterized by their use
    • C12Q2600/156Polymorphic or mutational markers
HUE16158103A 2011-04-12 2012-04-12 Genomfrakciók feloldása polimorfizmus-szám alkalmazásával HUE041411T2 (hu)

Applications Claiming Priority (1)

Application Number Priority Date Filing Date Title
US201161474362P 2011-04-12 2011-04-12

Publications (1)

Publication Number Publication Date
HUE041411T2 true HUE041411T2 (hu) 2019-05-28

Family

ID=46001809

Family Applications (3)

Application Number Title Priority Date Filing Date
HUE16158103A HUE041411T2 (hu) 2011-04-12 2012-04-12 Genomfrakciók feloldása polimorfizmus-szám alkalmazásával
HUE19178858A HUE057424T2 (hu) 2011-04-12 2012-04-12 Genomfrakciók feloldása polimorfizmus-szám alkalmazásával
HUE18186518A HUE050032T2 (hu) 2011-04-12 2012-04-12 Genomfrakciók feloldása polimorfizmus-szám alkalmazásával

Family Applications After (2)

Application Number Title Priority Date Filing Date
HUE19178858A HUE057424T2 (hu) 2011-04-12 2012-04-12 Genomfrakciók feloldása polimorfizmus-szám alkalmazásával
HUE18186518A HUE050032T2 (hu) 2011-04-12 2012-04-12 Genomfrakciók feloldása polimorfizmus-szám alkalmazásával

Country Status (20)

Country Link
US (3) US9447453B2 (hu)
EP (5) EP2697392B1 (hu)
JP (3) JP5863946B2 (hu)
CN (2) CN106319047B (hu)
AU (1) AU2012242698C1 (hu)
CA (1) CA2832468C (hu)
CY (3) CY1117574T1 (hu)
DK (4) DK3567124T3 (hu)
ES (4) ES2692333T3 (hu)
HK (1) HK1195103A1 (hu)
HR (3) HRP20220296T1 (hu)
HU (3) HUE041411T2 (hu)
IL (1) IL228843A (hu)
LT (3) LT3456844T (hu)
PL (4) PL3078752T3 (hu)
PT (3) PT3567124T (hu)
RS (3) RS57837B1 (hu)
SI (3) SI3078752T1 (hu)
TR (1) TR201816062T4 (hu)
WO (1) WO2012142334A2 (hu)

Families Citing this family (100)

* 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
US10081839B2 (en) 2005-07-29 2018-09-25 Natera, Inc System and method for cleaning noisy genetic data and determining chromosome copy number
US10083273B2 (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
US11111543B2 (en) 2005-07-29 2021-09-07 Natera, Inc. System and method for cleaning noisy genetic data and determining chromosome copy number
CN104732118B (zh) 2008-08-04 2017-08-22 纳特拉公司 等位基因调用和倍性调用的方法
US20120185176A1 (en) 2009-09-30 2012-07-19 Natera, Inc. Methods for Non-Invasive Prenatal Ploidy Calling
AU2011207561B2 (en) 2010-01-19 2014-02-20 Verinata Health, Inc. Partition defined detection methods
US10388403B2 (en) 2010-01-19 2019-08-20 Verinata Health, Inc. Analyzing copy number variation in the detection of cancer
US9323888B2 (en) 2010-01-19 2016-04-26 Verinata Health, Inc. Detecting and classifying copy number variation
EP3382037B1 (en) 2010-01-19 2021-02-17 Verinata Health, Inc. Methods for determining fraction of fetal nucleic acids in maternal samples
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
US20190010543A1 (en) 2010-05-18 2019-01-10 Natera, Inc. Methods for simultaneous amplification of target loci
US11322224B2 (en) 2010-05-18 2022-05-03 Natera, Inc. Methods for non-invasive prenatal ploidy calling
US11339429B2 (en) 2010-05-18 2022-05-24 Natera, Inc. Methods for non-invasive prenatal ploidy calling
US11408031B2 (en) 2010-05-18 2022-08-09 Natera, Inc. Methods for non-invasive prenatal paternity testing
US11332785B2 (en) 2010-05-18 2022-05-17 Natera, Inc. Methods for non-invasive prenatal ploidy calling
AU2011255641A1 (en) 2010-05-18 2012-12-06 Natera, Inc. Methods for non-invasive prenatal ploidy calling
US10316362B2 (en) 2010-05-18 2019-06-11 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
US11939634B2 (en) 2010-05-18 2024-03-26 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
US10533223B2 (en) 2010-08-06 2020-01-14 Ariosa Diagnostics, Inc. Detection of target nucleic acids using hybridization
US20140342940A1 (en) 2011-01-25 2014-11-20 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
US10167508B2 (en) 2010-08-06 2019-01-01 Ariosa Diagnostics, Inc. Detection of genetic abnormalities
US8700338B2 (en) 2011-01-25 2014-04-15 Ariosa Diagnosis, Inc. Risk calculation for evaluation of fetal aneuploidy
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
US20130040375A1 (en) 2011-08-08 2013-02-14 Tandem Diagnotics, Inc. Assay systems for genetic analysis
US11031095B2 (en) 2010-08-06 2021-06-08 Ariosa Diagnostics, Inc. Assay systems for determination of fetal copy number variation
AU2011348100B2 (en) 2010-12-22 2016-08-25 Natera, Inc. Methods for non-invasive prenatal paternity testing
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
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
CA3160848A1 (en) * 2011-02-24 2013-03-28 The Chinese University Of Hong Kong Molecular testing of multiple pregnancies
DK3567124T3 (da) 2011-04-12 2022-03-07 Verinata Health Inc Opløsning af genomfraktioner ved anvendelse af polymorfisme-optællinger
US9411937B2 (en) 2011-04-15 2016-08-09 Verinata Health, Inc. Detecting and classifying copy number variation
US8712697B2 (en) 2011-09-07 2014-04-29 Ariosa Diagnostics, Inc. Determination of copy number variations using binomial probability calculations
ES2651612T3 (es) 2011-10-18 2018-01-29 Multiplicom Nv Diagnóstico de aneuploidía cromosómica fetal
US10289800B2 (en) 2012-05-21 2019-05-14 Ariosa Diagnostics, Inc. Processes for calculating phased fetal genomic sequences
AU2013292287A1 (en) 2012-07-19 2015-02-19 Ariosa Diagnostics, Inc. Multiplexed sequential ligation-based detection of genetic variants
EP2877594B1 (en) 2012-07-20 2019-12-04 Verinata Health, Inc. Detecting and classifying copy number variation in a fetal genome
CN113337604A (zh) 2013-03-15 2021-09-03 莱兰斯坦福初级大学评议会 循环核酸肿瘤标志物的鉴别和用途
GB201304810D0 (en) * 2013-03-15 2013-05-01 Isis Innovation Assay
KR20230082691A (ko) 2013-05-24 2023-06-08 시쿼넘, 인코포레이티드 유전적 변이의 비침습 평가를 위한 방법 및 프로세스
WO2015026967A1 (en) * 2013-08-20 2015-02-26 Natera, Inc. Methods of using low fetal fraction detection
US20170132364A1 (en) * 2013-09-03 2017-05-11 Welgene Biotech Co., Ltd. Non-invasive prenatal testing method based on genome-wide normalized score
WO2015042649A1 (en) * 2013-09-27 2015-04-02 Murdoch Children's Research Institute A quantitative assay for target dna in a mixed sample comprising target and non-target dna
US10262755B2 (en) 2014-04-21 2019-04-16 Natera, Inc. Detecting cancer mutations and aneuploidy in chromosomal segments
WO2015048535A1 (en) 2013-09-27 2015-04-02 Natera, Inc. Prenatal diagnostic resting standards
US10577655B2 (en) 2013-09-27 2020-03-03 Natera, Inc. Cell free DNA diagnostic testing standards
RU2543155C1 (ru) * 2014-02-03 2015-02-27 Закрытое акционерное общество "Геноаналитика" Способ неинвазивной диагностики анеуплоидий плода методом секвенирования
EP3123170A4 (en) * 2014-03-27 2018-08-08 The Scripps Research Institute Systems and methods for genomic annotation and distributed variant interpretation
CN106460070B (zh) 2014-04-21 2021-10-08 纳特拉公司 检测染色体片段中的突变和倍性
WO2016019042A1 (en) 2014-07-30 2016-02-04 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
JP7441584B6 (ja) * 2014-08-22 2024-03-15 レゾリューション バイオサイエンス, インコーポレイテッド 無細胞DNA(cfDNA)の定量的遺伝子解析のための方法
US9857328B2 (en) 2014-12-18 2018-01-02 Agilome, Inc. Chemically-sensitive field effect transistors, systems and methods for manufacturing and using the same
US10006910B2 (en) 2014-12-18 2018-06-26 Agilome, Inc. Chemically-sensitive field effect transistors, systems, and methods for manufacturing and using the same
US9859394B2 (en) 2014-12-18 2018-01-02 Agilome, Inc. Graphene FET devices, systems, and methods of using the same for sequencing nucleic acids
CA2971589C (en) 2014-12-18 2021-09-28 Edico Genome Corporation Chemically-sensitive field effect transistor
US10020300B2 (en) 2014-12-18 2018-07-10 Agilome, Inc. Graphene FET devices, systems, and methods of using the same for sequencing nucleic acids
US9618474B2 (en) 2014-12-18 2017-04-11 Edico Genome, Inc. Graphene FET devices, systems, and methods of using the same for sequencing nucleic acids
US11479812B2 (en) 2015-05-11 2022-10-25 Natera, Inc. Methods and compositions for determining ploidy
US20180327820A1 (en) * 2015-06-15 2018-11-15 Murdoch Childrens Research Institute Method of measuring chimerism
BE1023274A9 (nl) * 2015-07-17 2017-03-17 Multiplicom Nv Schattingswerkwijze en -systeem voor het schatten van een foetale fractie
IL293187B2 (en) * 2015-09-22 2024-03-01 Univ Hong Kong Chinese Accurate quantification of a fetal DNA fragment using deep-shallow sequencing of maternal plasma DNA
BE1022771B1 (nl) 2015-10-14 2016-08-31 Multiplicom Nv Werkwijze en systeem om te bepalen of een vrouw zwanger is op basis van een bloedstaal
EP3889257A1 (en) 2015-11-11 2021-10-06 Resolution Bioscience, Inc. High efficiency construction of dna libraries
US10597717B2 (en) 2016-03-22 2020-03-24 Myriad Women's Health, Inc. Combinatorial DNA screening
EP3459115A4 (en) 2016-05-16 2020-04-08 Agilome, Inc. GRAPHEN-FET DEVICES, SYSTEMS AND METHODS FOR USE THEREOF FOR SEQUENCING NUCLEIC ACIDS
US11319594B2 (en) 2016-08-25 2022-05-03 Resolution Bioscience, Inc. Methods for the detection of genomic copy changes in DNA samples
CA3037366A1 (en) 2016-09-29 2018-04-05 Myriad Women's Health, Inc. Noninvasive prenatal screening using dynamic iterative depth optimization
US11485996B2 (en) 2016-10-04 2022-11-01 Natera, Inc. Methods for characterizing copy number variation using proximity-litigation sequencing
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
WO2018140521A1 (en) 2017-01-24 2018-08-02 Sequenom, Inc. Methods and processes for assessment of genetic variations
RU2636618C1 (ru) * 2017-02-14 2017-11-24 Федеральное государственное бюджетное учреждение "Национальный медицинский исследовательский центр акушерства, гинекологии и перинатологии имени академика В.И. Кулакова" Министерства здравоохранения Российской Федерации Способ и тест-система для определения доли плодовой ДНК в плазме крови беременной женщины с помощью методов высокопроизводительного секвенирования
EP3585889A1 (en) 2017-02-21 2020-01-01 Natera, Inc. Compositions, methods, and kits for isolating nucleic acids
EP3596233B1 (en) * 2017-03-17 2022-05-18 Sequenom, Inc. Methods and processes for assessment of genetic mosaicism
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
AU2018288772B2 (en) * 2017-06-20 2022-02-24 Illumina, Inc. Methods and systems for decomposition and quantification of dna mixtures from multiple contributors of known or unknown genotypes
SG11201911530RA (en) * 2017-06-20 2020-01-30 Illumina Inc Methods for accurate computational decomposition of dna mixtures from contributors of unknown genotypes
CN108220451B (zh) * 2017-12-08 2020-10-27 北京科迅生物技术有限公司 胎儿游离核酸浓度的检测方法及试剂盒
GB201810571D0 (en) 2018-06-27 2018-08-15 Cs Genetics Ltd Reagents and methods for the analysis of circulating microparticles
US11525159B2 (en) 2018-07-03 2022-12-13 Natera, Inc. Methods for detection of donor-derived cell-free DNA
ES2738176B2 (es) * 2018-07-20 2021-01-11 Bioarray S L Metodo para el estudio de mutaciones en embriones en procesos de reproduccion in vitro
CN109378037B (zh) * 2018-10-31 2023-04-14 中国石油大学(华东) 基于遗传学规律的等位基因准确推断方法
US20200381079A1 (en) * 2019-06-03 2020-12-03 Illumina, Inc. Methods for determining sub-genic copy numbers of a target gene with close homologs using beadarray
GB201909325D0 (en) 2019-06-28 2019-08-14 Cs Genetics Ltd Reagents and methods for analysis for microparticles
CN110438220A (zh) * 2019-08-16 2019-11-12 深圳市人民医院 纤毛不动综合症基因面板试剂盒及其应用
US11946104B2 (en) 2020-07-07 2024-04-02 Billiontoone, Inc. Non-invasive prenatal testing at early stage of pregnancy
CN113345515A (zh) * 2021-06-17 2021-09-03 苏州贝康医疗器械有限公司 新发平衡易位家系中胚胎遗传性检测方法及装置
CN113667734B (zh) * 2021-07-16 2022-05-24 四川大学华西医院 Shank3片段序列甲基化检测试剂在制备精神分裂症诊断试剂盒中的用途
WO2023014597A1 (en) 2021-08-02 2023-02-09 Natera, Inc. Methods for detecting neoplasm in pregnant women
AU2023220947A1 (en) 2022-02-16 2024-01-18 Illumina, Inc. Minimizing fetal fraction bias in maternal polygenic risk score estimation

Family Cites Families (88)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US6270961B1 (en) 1987-04-01 2001-08-07 Hyseq, Inc. Methods and apparatus for DNA sequencing and DNA identification
US5965362A (en) 1992-03-04 1999-10-12 The Regents Of The University Of California Comparative genomic hybridization (CGH)
WO1994003638A1 (en) 1992-07-30 1994-02-17 Applied Biosystems, Inc. Method of detecting aneuploidy by amplified short tandem repeats
US5776737A (en) 1994-12-22 1998-07-07 Visible Genetics Inc. Method and composition for internal identification of samples
US6057103A (en) 1995-07-18 2000-05-02 Diversa Corporation Screening for novel bioactivities
WO1998014275A1 (en) 1996-10-04 1998-04-09 Intronn Llc Sample collection devices and methods using markers and the use of such markers as controls in sample validation, laboratory evaluation and/or accreditation
GB9704444D0 (en) 1997-03-04 1997-04-23 Isis Innovation Non-invasive prenatal diagnosis
EP1591541B1 (en) 1997-04-01 2012-02-15 Illumina Cambridge Limited Method of nucleic acid sequencing
AR021833A1 (es) 1998-09-30 2002-08-07 Applied Research Systems Metodos de amplificacion y secuenciacion de acido nucleico
US6440706B1 (en) 1999-08-02 2002-08-27 Johns Hopkins University Digital amplification
US20020142324A1 (en) 2000-09-22 2002-10-03 Xun Wang Fungal target genes and methods to identify those genes
US6691042B2 (en) 2001-07-02 2004-02-10 Rosetta Inpharmatics Llc Methods for generating differential profiles by combining data obtained in separate measurements
US7226732B2 (en) 2001-07-16 2007-06-05 Cepheid Methods, apparatus, and computer programs for verifying the integrity of a probe
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
US7893248B2 (en) 2002-02-20 2011-02-22 Sirna Therapeutics, Inc. RNA interference mediated inhibition of Myc and/or Myb gene expression using short interfering nucleic acid (siNA)
US6977162B2 (en) * 2002-03-01 2005-12-20 Ravgen, Inc. Rapid analysis of variations in a genome
NZ535045A (en) * 2002-03-01 2008-04-30 Ravgen Inc Rapid analysis of variations in a genome
US20030194704A1 (en) 2002-04-03 2003-10-16 Penn Sharron Gaynor Human genome-derived single exon nucleic acid probes useful for gene expression analysis two
US7727720B2 (en) * 2002-05-08 2010-06-01 Ravgen, Inc. Methods for detection of genetic disorders
EP2359689B1 (en) 2002-09-27 2015-08-26 The General Hospital Corporation Microfluidic device for cell separation and use thereof
US10229244B2 (en) 2002-11-11 2019-03-12 Affymetrix, Inc. Methods for identifying DNA copy number changes using hidden markov model based estimations
US20040224331A1 (en) 2003-01-17 2004-11-11 The Trustees Of Boston University Haplotype analysis
US8394582B2 (en) 2003-03-05 2013-03-12 Genetic Technologies, Inc Identification of fetal DNA and fetal cell markers in maternal plasma or serum
WO2004081183A2 (en) 2003-03-07 2004-09-23 Rubicon Genomics, Inc. In vitro dna immortalization and whole genome amplification using libraries generated from randomly fragmented dna
EP2354253A3 (en) 2003-09-05 2011-11-16 Trustees of Boston University Method for non-invasive prenatal diagnosis
WO2005039389A2 (en) 2003-10-22 2005-05-06 454 Corporation Sequence-based karyotyping
US20050114205A1 (en) * 2003-11-21 2005-05-26 Kenneth Nelson Multi-media digital cartridge storage and playback units
US7252946B2 (en) 2004-01-27 2007-08-07 Zoragen, Inc. Nucleic acid detection
US20100216151A1 (en) 2004-02-27 2010-08-26 Helicos Biosciences Corporation Methods for detecting fetal nucleic acids and diagnosing fetal abnormalities
US20100216153A1 (en) * 2004-02-27 2010-08-26 Helicos Biosciences Corporation Methods for detecting fetal nucleic acids and diagnosing fetal abnormalities
US20060046258A1 (en) 2004-02-27 2006-03-02 Lapidus Stanley N Applications of single molecule sequencing
US20090117542A1 (en) 2004-05-17 2009-05-07 The Ohio State University Research Foundation Unique short tandem repeats and methods of their use
DE102004036285A1 (de) 2004-07-27 2006-02-16 Advalytix Ag Verfahren zum Bestimmen der Häufigkeit von Sequenzen einer Probe
TW200624106A (en) 2004-09-07 2006-07-16 Uni Charm Corp Warming article
JP2007327743A (ja) 2004-09-07 2007-12-20 Univ Of Tokyo 遺伝子コピーの解析方法及び装置
US20060286566A1 (en) * 2005-02-03 2006-12-21 Helicos Biosciences Corporation Detecting apparent mutations in nucleic acid sequences
US20060178835A1 (en) 2005-02-10 2006-08-10 Applera Corporation Normalization methods for genotyping analysis
US7645576B2 (en) 2005-03-18 2010-01-12 The Chinese University Of Hong Kong Method for the detection of chromosomal aneuploidies
CA2611409A1 (en) 2005-06-08 2006-12-14 Compugen Ltd. Novel nucleotide and amino acid sequences, and assays and methods of use thereof for diagnosis
US20060286558A1 (en) 2005-06-15 2006-12-21 Natalia Novoradovskaya Normalization of samples for amplification reactions
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
DE102005057988A1 (de) 2005-08-04 2007-02-08 Bosch Rexroth Ag Axialkolbenmaschine
PL1981995T5 (pl) 2006-02-02 2019-10-31 Univ Leland Stanford Junior Nieinwazyjne genetyczne badania przesiewowe płodu metodą analizy cyfrowej
US20100184043A1 (en) * 2006-02-28 2010-07-22 University Of Louisville Research Foundation Detecting Genetic Abnormalities
DK1996728T3 (da) 2006-02-28 2011-08-15 Univ Louisville Res Found Detektering af føtale chromosomale abnormiteter under anvendelse af tandem-enkeltnukleotid-polymorfismer
WO2007146105A2 (en) 2006-06-05 2007-12-21 Cryo-Cell International, Inc. Procurement, isolation and cryopreservation of fetal placental cells
EP2589668A1 (en) 2006-06-14 2013-05-08 Verinata Health, Inc Rare cell analysis using sample splitting and DNA tags
EP3424598B1 (en) 2006-06-14 2022-06-08 Verinata Health, Inc. Rare cell analysis using sample splitting and dna tags
US8137912B2 (en) 2006-06-14 2012-03-20 The General Hospital Corporation Methods for the diagnosis of fetal abnormalities
EP2029779A4 (en) 2006-06-14 2010-01-20 Living Microsystems Inc HIGHLY PARALLEL SNP GENOTYPING UTILIZATION FOR FETAL DIAGNOSIS
US20080050739A1 (en) 2006-06-14 2008-02-28 Roland Stoughton Diagnosis of fetal abnormalities using polymorphisms including short tandem repeats
EP2049682A2 (en) 2006-07-31 2009-04-22 Illumina Cambridge Limited Method of library preparation avoiding the formation of adaptor dimers
US8262900B2 (en) 2006-12-14 2012-09-11 Life Technologies Corporation Methods and apparatus for measuring analytes using large scale FET arrays
WO2008098142A2 (en) 2007-02-08 2008-08-14 Sequenom, Inc. Nucleic acid-based tests for rhd typing, gender determination and nucleic acid quantification
HUE030510T2 (hu) 2007-07-23 2017-05-29 Univ Hong Kong Chinese Magzati kromoszómális aneuploidia diagnosztizálása genomszekvenálás alkalmazásával
US20100112590A1 (en) 2007-07-23 2010-05-06 The Chinese University Of Hong Kong Diagnosing Fetal Chromosomal Aneuploidy Using Genomic Sequencing With Enrichment
CA2701726A1 (en) 2007-10-04 2009-04-09 Halcyon Molecular Sequencing nucleic acid polymers with electron microscopy
US8709726B2 (en) * 2008-03-11 2014-04-29 Sequenom, Inc. Nucleic acid-based tests for prenatal gender determination
US20090299645A1 (en) 2008-03-19 2009-12-03 Brandon Colby Genetic analysis
EP2276858A4 (en) 2008-03-26 2011-10-05 Sequenom Inc RESTRICTED ENDONUCLEASE AMPLIFIED POLYMORPHIC SEQUENCE DETECTION
US20090270601A1 (en) 2008-04-21 2009-10-29 Steven Albert Benner Differential detection of single nucleotide polymorphisms
ES2532153T3 (es) 2008-07-18 2015-03-24 Trovagene, Inc. Métodos para la detección de secuencias de ácidos nucleicos "ultracortos" basados en PCR
US20100112575A1 (en) 2008-09-20 2010-05-06 The Board Of Trustees Of The Leland Stanford Junior University Noninvasive Diagnosis of Fetal Aneuploidy by Sequencing
WO2010115044A2 (en) 2009-04-02 2010-10-07 Fluidigm Corporation Selective tagging of short nucleic acid fragments and selective protection of target sequences from degradation
CA2778926C (en) 2009-10-26 2018-03-27 Lifecodexx Ag Means and methods for non-invasive diagnosis of chromosomal aneuploidy
CA2779695C (en) * 2009-11-05 2016-05-24 The Chinese University Of Hong Kong Fetal genomic analysis from a maternal biological sample
US9361426B2 (en) 2009-11-12 2016-06-07 Esoterix Genetic Laboratories, Llc Copy number analysis of genetic locus
WO2011090556A1 (en) 2010-01-19 2011-07-28 Verinata Health, Inc. Methods for determining fraction of fetal nucleic acid in maternal samples
US9260745B2 (en) 2010-01-19 2016-02-16 Verinata Health, Inc. Detecting and classifying copy number variation
AU2011207561B2 (en) 2010-01-19 2014-02-20 Verinata Health, Inc. Partition defined detection methods
EP2513341B1 (en) 2010-01-19 2017-04-12 Verinata Health, Inc Identification of polymorphic sequences in mixtures of genomic dna by whole genome sequencing
EP3382037B1 (en) 2010-01-19 2021-02-17 Verinata Health, Inc. Methods for determining fraction of fetal nucleic acids in maternal samples
US9323888B2 (en) 2010-01-19 2016-04-26 Verinata Health, Inc. Detecting and classifying copy number variation
US20120237928A1 (en) 2010-10-26 2012-09-20 Verinata Health, Inc. Method for determining copy number variations
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
US20110312503A1 (en) 2010-01-23 2011-12-22 Artemis Health, Inc. Methods of fetal abnormality detection
WO2012012037A1 (en) 2010-07-19 2012-01-26 New England Biolabs, Inc. Oligonucleotide adaptors: compositions and methods of use
US20120034603A1 (en) 2010-08-06 2012-02-09 Tandem Diagnostics, Inc. Ligation-based detection of genetic variants
CN108899091B (zh) 2010-11-30 2022-04-15 香港中文大学 与癌症相关的遗传或分子畸变的检测
WO2012078792A2 (en) 2010-12-07 2012-06-14 Stanford University Non-invasive determination of fetal inheritance of parental haplotypes at the genome-wide scale
WO2012088348A2 (en) 2010-12-23 2012-06-28 Sequenom, Inc. Fetal genetic variation detection
US20120190021A1 (en) 2011-01-25 2012-07-26 Aria Diagnostics, Inc. Detection of genetic abnormalities
AU2011358564B9 (en) * 2011-02-09 2017-07-13 Natera, Inc Methods for non-invasive prenatal ploidy calling
DK3567124T3 (da) 2011-04-12 2022-03-07 Verinata Health Inc Opløsning af genomfraktioner ved anvendelse af polymorfisme-optællinger
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
EP2563937A1 (en) 2011-07-26 2013-03-06 Verinata Health, Inc Method for determining the presence or absence of different aneuploidies in a sample

Also Published As

Publication number Publication date
JP2014512817A (ja) 2014-05-29
PL3456844T3 (pl) 2020-11-16
EP3078752B1 (en) 2018-08-01
LT3456844T (lt) 2020-08-25
RS60710B1 (sr) 2020-09-30
JP5863946B2 (ja) 2016-02-17
HUE050032T2 (hu) 2020-11-30
RS63008B1 (sr) 2022-03-31
LT3078752T (lt) 2018-11-26
HRP20201249T1 (hr) 2020-11-13
US9447453B2 (en) 2016-09-20
US20200251180A1 (en) 2020-08-06
CY1123287T1 (el) 2021-12-31
HUE057424T2 (hu) 2022-05-28
SI3567124T1 (sl) 2022-05-31
LT3567124T (lt) 2022-04-11
PT3078752T (pt) 2018-11-22
EP3567124B1 (en) 2021-12-15
US20170039318A1 (en) 2017-02-09
AU2012242698C1 (en) 2015-06-04
PT3567124T (pt) 2022-02-01
EP3456844A1 (en) 2019-03-20
DK3567124T3 (da) 2022-03-07
CY1120851T1 (el) 2019-12-11
RS57837B1 (sr) 2018-12-31
HRP20220296T1 (hr) 2022-05-13
JP6268153B2 (ja) 2018-01-24
CA2832468A1 (en) 2012-10-18
JP2016101168A (ja) 2016-06-02
IL228843A0 (en) 2013-12-31
US20120264121A1 (en) 2012-10-18
DK3456844T3 (da) 2020-06-29
EP4039820A1 (en) 2022-08-10
AU2012242698B2 (en) 2014-09-04
ES2806728T3 (es) 2021-02-18
PL2697392T3 (pl) 2016-08-31
PL3078752T3 (pl) 2019-02-28
SI3456844T1 (sl) 2020-10-30
EP3078752A1 (en) 2016-10-12
WO2012142334A2 (en) 2012-10-18
EP2697392A2 (en) 2014-02-19
CA2832468C (en) 2023-10-31
HRP20181770T1 (hr) 2018-12-28
DK2697392T3 (en) 2016-03-29
ES2572912T3 (es) 2016-06-03
AU2012242698A1 (en) 2013-05-09
SI3078752T1 (sl) 2018-12-31
WO2012142334A3 (en) 2013-04-25
ES2907069T3 (es) 2022-04-21
HK1195103A1 (zh) 2014-10-31
IL228843A (en) 2016-07-31
CN103797129B (zh) 2016-08-17
EP2697392B1 (en) 2016-03-02
JP2018061514A (ja) 2018-04-19
TR201816062T4 (tr) 2018-11-21
EP3456844B1 (en) 2020-06-10
CN106319047B (zh) 2020-02-18
DK3078752T3 (en) 2018-11-12
CN103797129A (zh) 2014-05-14
CY1117574T1 (el) 2017-04-26
PT3456844T (pt) 2020-08-25
PL3567124T3 (pl) 2022-04-19
US10658070B2 (en) 2020-05-19
EP3567124A1 (en) 2019-11-13
ES2692333T3 (es) 2018-12-03
CN106319047A (zh) 2017-01-11
JP6760917B2 (ja) 2020-09-23

Similar Documents

Publication Publication Date Title
HRP20181770T1 (hr) Rješavanje genomskih frakcija upotrebom broja kopija polimorfizama
IL231983A0 (en) Dna containing tricyclo-phosphorothioate
LT2742151T (lt) Polimerazės kompozicija
EP2726548A4 (en) HARDENING COMPOSITIONS
EP2682432A4 (en) HARDENING COMPOSITION
EP2735590A4 (en) HARDENING COMPOSITION
GB201118636D0 (en) Nucleotide sequence
EP2662410A4 (en) CURABLE COMPOSITION
EP2784124A4 (en) HARDENING COMPOSITION
EP2784128A4 (en) HARDENING COMPOSITION
EP2784123A4 (en) CURABLE COMPOSITION
EP2784127A4 (en) HARDENING COMPOSITION
EP2722366A4 (en) HARDENING COMPOSITION
EP2662413A4 (en) CURABLE COMPOSITION
EP2784125A4 (en) CURABLE COMPOSITION
EP2662411A4 (en) CURABLE COMPOSITION
EP2726547A4 (en) HARDENING COMPOSITIONS
EP2662412A4 (en) HARDENING COMPOSITION
EP2784126A4 (en) CURABLE COMPOSITION
TWI561573B (en) Curable compositions
EP2663657A4 (en) GENOMIC ASSEMBLY
EP2706095A4 (en) HARDENING COMPOSITION
GB201204205D0 (en) Alcohol-containing compositions
GB201112355D0 (en) DNA screening
GB201216870D0 (en) dna screening