PL2697392T3 - Rozdzielanie frakcji genomowych z wykorzystaniem liczby polimorfizmów - Google Patents

Rozdzielanie frakcji genomowych z wykorzystaniem liczby polimorfizmów

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Publication number
PL2697392T3
PL2697392T3 PL12716939T PL12716939T PL2697392T3 PL 2697392 T3 PL2697392 T3 PL 2697392T3 PL 12716939 T PL12716939 T PL 12716939T PL 12716939 T PL12716939 T PL 12716939T PL 2697392 T3 PL2697392 T3 PL 2697392T3
Authority
PL
Poland
Prior art keywords
polymorphism
counts
resolving
genome fractions
fractions
Prior art date
Application number
PL12716939T
Other languages
English (en)
Inventor
Richard P Rava
Brian K Rhees
John P 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=PL2697392(T3) "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 PL2697392T3 publication Critical patent/PL2697392T3/pl

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Classifications

    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • 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
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6809—Methods for determination or identification of nucleic acids involving differential detection
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6813—Hybridisation assays
    • C12Q1/6827—Hybridisation assays for detection of mutation or polymorphism
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6883—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G16B20/10—Ploidy or copy number detection
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • 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
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B45/00—ICT specially adapted for bioinformatics-related data visualisation, e.g. displaying of maps or networks
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/156—Polymorphic or mutational markers
PL12716939T 2011-04-12 2012-04-12 Rozdzielanie frakcji genomowych z wykorzystaniem liczby polimorfizmów PL2697392T3 (pl)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US201161474362P 2011-04-12 2011-04-12
EP12716939.9A EP2697392B1 (en) 2011-04-12 2012-04-12 Resolving genome fractions using polymorphism counts
PCT/US2012/033391 WO2012142334A2 (en) 2011-04-12 2012-04-12 Resolving genome fractions using polymorphism counts

Publications (1)

Publication Number Publication Date
PL2697392T3 true PL2697392T3 (pl) 2016-08-31

Family

ID=46001809

Family Applications (4)

Application Number Title Priority Date Filing Date
PL16158103T PL3078752T3 (pl) 2011-04-12 2012-04-12 Rozdzielanie frakcji genomowych z wykorzystaniem liczby polimorfizmów
PL12716939T PL2697392T3 (pl) 2011-04-12 2012-04-12 Rozdzielanie frakcji genomowych z wykorzystaniem liczby polimorfizmów
PL19178858T PL3567124T3 (pl) 2011-04-12 2012-04-12 Rozdzielanie frakcji genomu z wykorzystaniem liczby polimorfizmu
PL18186518T PL3456844T3 (pl) 2011-04-12 2012-04-12 Rozdzielanie frakcji genomowych z wykorzystaniem zliczeń polimorfizmów

Family Applications Before (1)

Application Number Title Priority Date Filing Date
PL16158103T PL3078752T3 (pl) 2011-04-12 2012-04-12 Rozdzielanie frakcji genomowych z wykorzystaniem liczby polimorfizmów

Family Applications After (2)

Application Number Title Priority Date Filing Date
PL19178858T PL3567124T3 (pl) 2011-04-12 2012-04-12 Rozdzielanie frakcji genomu z wykorzystaniem liczby polimorfizmu
PL18186518T PL3456844T3 (pl) 2011-04-12 2012-04-12 Rozdzielanie frakcji genomowych z wykorzystaniem zliczeń polimorfizmów

Country Status (20)

Country Link
US (3) US9447453B2 (pl)
EP (5) EP2697392B1 (pl)
JP (3) JP5863946B2 (pl)
CN (2) CN103797129B (pl)
AU (1) AU2012242698C1 (pl)
CA (1) CA2832468C (pl)
CY (3) CY1117574T1 (pl)
DK (4) DK3567124T3 (pl)
ES (4) ES2806728T3 (pl)
HK (1) HK1195103A1 (pl)
HR (3) HRP20220296T1 (pl)
HU (3) HUE050032T2 (pl)
IL (1) IL228843A (pl)
LT (3) LT3567124T (pl)
PL (4) PL3078752T3 (pl)
PT (3) PT3078752T (pl)
RS (3) RS57837B1 (pl)
SI (3) SI3456844T1 (pl)
TR (1) TR201816062T4 (pl)
WO (1) WO2012142334A2 (pl)

Families Citing this family (100)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US11111543B2 (en) 2005-07-29 2021-09-07 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
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
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
CA2731991C (en) 2008-08-04 2021-06-08 Gene Security Network, Inc. Methods for allele calling and ploidy calling
EP2473638B1 (en) 2009-09-30 2017-08-09 Natera, Inc. Methods for non-invasive prenatal ploidy calling
US8700341B2 (en) 2010-01-19 2014-04-15 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
US9260745B2 (en) 2010-01-19 2016-02-16 Verinata Health, Inc. Detecting and classifying copy number variation
EP2366031B1 (en) 2010-01-19 2015-01-21 Verinata Health, Inc Sequencing methods in prenatal diagnoses
US20120100548A1 (en) 2010-10-26 2012-04-26 Verinata Health, Inc. Method for determining copy number variations
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
US11326208B2 (en) 2010-05-18 2022-05-10 Natera, Inc. Methods for nested PCR amplification of cell-free DNA
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
US11332793B2 (en) 2010-05-18 2022-05-17 Natera, Inc. Methods for simultaneous amplification of target loci
US10316362B2 (en) 2010-05-18 2019-06-11 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
US9677118B2 (en) 2014-04-21 2017-06-13 Natera, Inc. Methods for simultaneous amplification of target loci
US11408031B2 (en) 2010-05-18 2022-08-09 Natera, Inc. Methods for non-invasive prenatal paternity testing
WO2011146632A1 (en) 2010-05-18 2011-11-24 Gene Security Network Inc. Methods for non-invasive prenatal ploidy calling
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
US10167508B2 (en) 2010-08-06 2019-01-01 Ariosa Diagnostics, Inc. Detection of genetic abnormalities
US10533223B2 (en) 2010-08-06 2020-01-14 Ariosa Diagnostics, Inc. Detection of target nucleic acids using hybridization
US20130040375A1 (en) 2011-08-08 2013-02-14 Tandem Diagnotics, Inc. Assay systems for genetic analysis
US20140342940A1 (en) 2011-01-25 2014-11-20 Ariosa Diagnostics, Inc. Detection of Target Nucleic Acids using Hybridization
US8700338B2 (en) 2011-01-25 2014-04-15 Ariosa Diagnosis, Inc. Risk calculation for evaluation of fetal aneuploidy
US11031095B2 (en) 2010-08-06 2021-06-08 Ariosa Diagnostics, Inc. Assay systems for determination of fetal copy number variation
US11203786B2 (en) 2010-08-06 2021-12-21 Ariosa Diagnostics, Inc. Detection of target nucleic acids using hybridization
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
US9994897B2 (en) 2013-03-08 2018-06-12 Ariosa Diagnostics, Inc. Non-invasive fetal sex determination
AU2011358564B9 (en) 2011-02-09 2017-07-13 Natera, Inc Methods for non-invasive prenatal ploidy calling
CN103492589B (zh) * 2011-02-24 2016-06-15 香港中文大学 多胎妊娠的分子测试
HUE050032T2 (hu) 2011-04-12 2020-11-30 Verinata Health Inc Genomfrakciók feloldása polimorfizmus-szám alkalmazásával
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
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
AU2013204615A1 (en) 2012-07-20 2014-02-06 Verinata Health, Inc. Detecting and classifying copy number variation in a fetal genome
GB201304810D0 (en) * 2013-03-15 2013-05-01 Isis Innovation Assay
ES2946689T3 (es) 2013-03-15 2023-07-24 Univ Leland Stanford Junior Identificación y uso de marcadores tumorales de ácido nucleico circulante
WO2014190286A2 (en) 2013-05-24 2014-11-27 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
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
WO2015048535A1 (en) 2013-09-27 2015-04-02 Natera, Inc. Prenatal diagnostic resting standards
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
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
US10741291B2 (en) * 2014-03-27 2020-08-11 The Scripps Research Institute Systems and methods for genomic annotation and distributed variant interpretation
CN113774132A (zh) 2014-04-21 2021-12-10 纳特拉公司 检测染色体片段中的突变和倍性
US11783911B2 (en) 2014-07-30 2023-10-10 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
US9859394B2 (en) 2014-12-18 2018-01-02 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
EP3235010A4 (en) 2014-12-18 2018-08-29 Agilome, Inc. Chemically-sensitive field effect transistor
US9857328B2 (en) 2014-12-18 2018-01-02 Agilome, Inc. Chemically-sensitive field effect transistors, systems and methods for manufacturing and using the same
US10020300B2 (en) 2014-12-18 2018-07-10 Agilome, Inc. Graphene FET devices, systems, and methods of using the same for sequencing nucleic acids
US10006910B2 (en) 2014-12-18 2018-06-26 Agilome, Inc. Chemically-sensitive field effect transistors, systems, and methods for manufacturing and using the same
US11479812B2 (en) 2015-05-11 2022-10-25 Natera, Inc. Methods and compositions for determining ploidy
CN107960107A (zh) * 2015-06-15 2018-04-24 默多克儿童研究所 测量嵌合状态的方法
BE1023274A9 (nl) * 2015-07-17 2017-03-17 Multiplicom Nv Schattingswerkwijze en -systeem voor het schatten van een foetale fractie
WO2017050244A1 (en) * 2015-09-22 2017-03-30 The Chinese University Of Hong Kong Accurate quantification of fetal dna fraction by shallow-depth 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
JP6913089B2 (ja) 2015-11-11 2021-08-04 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 Ｄｎａライブラリーの高効率構築
EP4071250A1 (en) 2016-03-22 2022-10-12 Myriad Women's Health, Inc. Combinatorial dna screening
WO2017201081A1 (en) 2016-05-16 2017-11-23 Agilome, Inc. Graphene fet devices, systems, and methods of using the same for sequencing nucleic acids
RU2019108294A (ru) 2016-08-25 2020-09-25 Резолюшн Байосайенс, Инк. Способы обнаружения изменений количества геномных копий в образцах днк
US11854666B2 (en) 2016-09-29 2023-12-26 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
WO2018090991A1 (en) * 2016-11-18 2018-05-24 The Chinese University Of Hong Kong Universal haplotype-based noninvasive prenatal testing for single gene diseases
US10011870B2 (en) 2016-12-07 2018-07-03 Natera, Inc. Compositions and methods for identifying nucleic acid molecules
CA3207879A1 (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
CA3049139A1 (en) 2017-02-21 2018-08-30 Natera, Inc. Compositions, methods, and kits for isolating nucleic acids
CA3056118A1 (en) * 2017-03-17 2018-09-20 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
KR102487135B1 (ko) * 2017-06-20 2023-01-10 일루미나, 인코포레이티드 기지 또는 미지의 유전자형의 다수의 기여자로부터 dna 혼합물을 분해 및 정량하기 위한 방법 및 시스템
KR102543270B1 (ko) * 2017-06-20 2023-06-13 일루미나, 인코포레이티드 미지의 유전자형의 기여자로부터의 dna 혼합물의 정확한 컴퓨팅 분해를 위한 방법
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
AU2022323972A1 (en) 2021-08-02 2024-01-25 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
JP2001510557A (ja) 1996-10-04 2001-07-31 イントロン エルエルシー サンプル収集デバイス及びマーカーを用いたサンプル収集方法、及びサンプル確認、ラボの評価及び／又は認定の際の比較試料としてのマーカーの使用
GB9704444D0 (en) 1997-03-04 1997-04-23 Isis Innovation Non-invasive prenatal diagnosis
ES2563643T3 (es) 1997-04-01 2016-03-15 Illumina Cambridge Limited Método de secuenciación de ácido nucleico
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
CN1650032A (zh) * 2002-03-01 2005-08-03 拉瓦格恩公司 检测遗传疾病的方法
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
ES2375724T3 (es) 2002-09-27 2012-03-05 The General Hospital Corporation Dispositivo microflu�?dico para seperación de células y sus usos.
US10229244B2 (en) 2002-11-11 2019-03-12 Affymetrix, Inc. Methods for identifying DNA copy number changes using hidden markov model based estimations
EP1587946B1 (en) 2003-01-17 2009-07-08 The Trustees Of Boston University Haplotype analysis
WO2004078999A1 (en) * 2003-03-05 2004-09-16 Genetic Technologies Limited Identification of fetal dna and fetal cell markers in maternal plasma or serum
EP1606417A2 (en) 2003-03-07 2005-12-21 Rubicon Genomics Inc. In vitro dna immortalization and whole genome amplification using libraries generated from randomly fragmented dna
EP1664077B1 (en) 2003-09-05 2016-04-13 Trustees of Boston University Method for non-invasive prenatal diagnosis
US20050221341A1 (en) 2003-10-22 2005-10-06 Shimkets Richard A Sequence-based karyotyping
US20050114205A1 (en) * 2003-11-21 2005-05-26 Kenneth Nelson Multi-media digital cartridge storage and playback units
WO2005072133A2 (en) 2004-01-27 2005-08-11 Zoragen, Inc. Nucleic acid detection
US20100216153A1 (en) * 2004-02-27 2010-08-26 Helicos Biosciences Corporation Methods for detecting fetal nucleic acids and diagnosing fetal abnormalities
US20100216151A1 (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
WO2005116257A2 (en) 2004-05-17 2005-12-08 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
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
AU2006256374A1 (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
US7888017B2 (en) 2006-02-02 2011-02-15 The Board Of Trustees Of The Leland Stanford Junior University Non-invasive fetal genetic screening by digital analysis
ATE508209T1 (de) 2006-02-28 2011-05-15 Univ Louisville Res Found Erkennung von chromosomabnormalitäten im fötus mit hilfe der tandem-einzelnukleotid- polymorphismen
US20100184043A1 (en) * 2006-02-28 2010-07-22 University Of Louisville Research Foundation Detecting Genetic Abnormalities
WO2007146106A2 (en) 2006-06-05 2007-12-21 Cryo- Cell International, Inc. Procurement, isolation and cryopreservation of maternal placental cells
US20080070792A1 (en) 2006-06-14 2008-03-20 Roland Stoughton Use of highly parallel snp genotyping for fetal diagnosis
EP2589668A1 (en) 2006-06-14 2013-05-08 Verinata Health, Inc Rare cell analysis using sample splitting and DNA tags
CA2655272C (en) 2006-06-14 2017-04-18 Living Microsystems, 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
US20080050739A1 (en) 2006-06-14 2008-02-28 Roland Stoughton Diagnosis of fetal abnormalities using polymorphisms including short tandem repeats
WO2008015396A2 (en) 2006-07-31 2008-02-07 Solexa 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
PT2557517T (pt) 2007-07-23 2023-01-04 Univ Hong Kong Chinese Determinação de um desequilíbrio de sequências de ácido nucleico
US20100112590A1 (en) 2007-07-23 2010-05-06 The Chinese University Of Hong Kong Diagnosing Fetal Chromosomal Aneuploidy Using Genomic Sequencing With Enrichment
WO2009046445A1 (en) 2007-10-04 2009-04-09 Halcyon Molecular Sequencing nucleic acid polymers with electron microscopy
EP2271772B1 (en) * 2008-03-11 2014-07-16 Sequenom, Inc. Nucleic acid-based tests for prenatal gender determination
AU2009226083A1 (en) 2008-03-19 2009-09-24 Existence Genetics Llc Genetic analysis
US8206926B2 (en) 2008-03-26 2012-06-26 Sequenom, Inc. Restriction endonuclease enhanced polymorphic sequence detection
US20090270601A1 (en) 2008-04-21 2009-10-29 Steven Albert Benner Differential detection of single nucleotide polymorphisms
EP2853601B1 (en) 2008-07-18 2016-09-21 TrovaGene, Inc. Methods for PCR-based detection of "ultra short" nucleic acid sequences
SI2334812T1 (sl) 2008-09-20 2017-05-31 The Board of Trustees of the Leland Stanford Junior University Office of the General Counsel Building 170 Neinvazivna diagnoza fetalne anevploidije s sekvenciranjem
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
ES2564656T3 (es) 2009-10-26 2016-03-28 Lifecodexx Ag Medios y métodos para el diagnóstico no invasivo de la aneuploidía cromosómica
RS63944B1 (sr) * 2009-11-05 2023-02-28 Univ Hong Kong Chinese Analiza genoma fetusa iz biološkog uzorka majke
CN102597272A (zh) 2009-11-12 2012-07-18 艾索特里克斯遗传实验室有限责任公司 基因座的拷贝数分析
WO2011091046A1 (en) 2010-01-19 2011-07-28 Verinata Health, Inc. Identification of polymorphic sequences in mixtures of genomic dna by whole genome sequencing
US20120100548A1 (en) 2010-10-26 2012-04-26 Verinata Health, Inc. Method for determining copy number variations
US9260745B2 (en) 2010-01-19 2016-02-16 Verinata Health, Inc. Detecting and classifying copy number variation
US10388403B2 (en) 2010-01-19 2019-08-20 Verinata Health, Inc. Analyzing copy number variation in the detection of cancer
WO2011090556A1 (en) 2010-01-19 2011-07-28 Verinata Health, Inc. Methods for determining fraction of fetal nucleic acid in maternal samples
US9323888B2 (en) 2010-01-19 2016-04-26 Verinata Health, Inc. Detecting and classifying copy number variation
EP2366031B1 (en) 2010-01-19 2015-01-21 Verinata Health, Inc Sequencing methods in prenatal diagnoses
US20120237928A1 (en) 2010-10-26 2012-09-20 Verinata Health, Inc. Method for determining copy number variations
US8700341B2 (en) 2010-01-19 2014-04-15 Verinata Health, Inc. Partition defined detection methods
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
KR102040307B1 (ko) 2010-11-30 2019-11-27 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
EP2655666A2 (en) 2010-12-23 2013-10-30 Sequenom, Inc. Fetal genetic variation detection
WO2012103031A2 (en) * 2011-01-25 2012-08-02 Ariosa Diagnostics, Inc. Detection of genetic abnormalities
AU2011358564B9 (en) * 2011-02-09 2017-07-13 Natera, Inc Methods for non-invasive prenatal ploidy calling
HUE050032T2 (hu) 2011-04-12 2020-11-30 Verinata Health Inc Genomfrakciók feloldása polimorfizmus-szám alkalmazásával
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
KR101974492B1 (ko) 2011-07-26 2019-05-02 베리나타 헬스, 인코포레이티드 샘플 중 상이한 이수성의 존재 또는 부재를 결정하는 방법

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