CA2866324C - Methods for analyzing massively parallel sequencing data for noninvasive prenatal diagnosis - Google Patents

Methods for analyzing massively parallel sequencing data for noninvasive prenatal diagnosis Download PDF

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Publication number
CA2866324C
CA2866324C CA2866324A CA2866324A CA2866324C CA 2866324 C CA2866324 C CA 2866324C CA 2866324 A CA2866324 A CA 2866324A CA 2866324 A CA2866324 A CA 2866324A CA 2866324 C CA2866324 C CA 2866324C
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chromosome
trisomy
amount
content
correction
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CA2866324A1 (en
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Zhang CHEN
Yuk Ming Dennis Lo
Kwan Chee Chan
Wenli Zheng
Hao Sun
Wai Kwun Rossa Chiu
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Chinese University of Hong Kong CUHK
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    • 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
    • G16B15/00—ICT specially adapted for analysing two-dimensional [2D] or three-dimensional [3D] molecular structures, e.g. structural or functional relations or structure alignment
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G16B20/10—Ploidy or copy number detection
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G16B20/20—Allele or variant detection, e.g. single nucleotide polymorphism [SNP] detection
    • 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
    • G16B30/20—Sequence assembly
    • 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

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  • Physics & Mathematics (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Engineering & Computer Science (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Chemical & Material Sciences (AREA)
  • Biophysics (AREA)
  • Theoretical Computer Science (AREA)
  • General Health & Medical Sciences (AREA)
  • Medical Informatics (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Biotechnology (AREA)
  • Evolutionary Biology (AREA)
  • Analytical Chemistry (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Molecular Biology (AREA)
  • Genetics & Genomics (AREA)
  • Crystallography & Structural Chemistry (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Apparatus Associated With Microorganisms And Enzymes (AREA)
CA2866324A 2012-03-13 2013-03-13 Methods for analyzing massively parallel sequencing data for noninvasive prenatal diagnosis Active CA2866324C (en)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US201261610422P 2012-03-13 2012-03-13
US61/610,422 2012-03-13
PCT/US2013/031082 WO2013138527A1 (en) 2012-03-13 2013-03-13 Methods for analyzing massively parallel sequencing data for noninvasive prenatal diagnosis

Publications (2)

Publication Number Publication Date
CA2866324A1 CA2866324A1 (en) 2013-09-19
CA2866324C true CA2866324C (en) 2019-01-15

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CA2866324A Active CA2866324C (en) 2012-03-13 2013-03-13 Methods for analyzing massively parallel sequencing data for noninvasive prenatal diagnosis

Country Status (6)

Country Link
US (1) US9218449B2 (https=)
EP (2) EP3573066B1 (https=)
JP (1) JP6411995B2 (https=)
AU (1) AU2013232123B2 (https=)
CA (1) CA2866324C (https=)
WO (1) WO2013138527A1 (https=)

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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
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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
US10497461B2 (en) 2012-06-22 2019-12-03 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US10482994B2 (en) 2012-10-04 2019-11-19 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US20130309666A1 (en) 2013-01-25 2013-11-21 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US10930368B2 (en) 2013-04-03 2021-02-23 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
KR102665592B1 (ko) 2013-05-24 2024-05-21 시쿼넘, 인코포레이티드 유전적 변이의 비침습 평가를 위한 방법 및 프로세스
ES3037160T3 (en) 2013-06-21 2025-09-29 Sequenom Inc Methods and processes for non-invasive assessment of genetic variations
KR102384620B1 (ko) 2013-10-04 2022-04-11 시쿼넘, 인코포레이티드 유전적 변이의 비침습 평가를 위한 방법 및 프로세스
CN105874082B (zh) 2013-10-07 2020-06-02 塞昆纳姆股份有限公司 用于非侵入性评估染色体改变的方法和过程
CN105830077B (zh) * 2013-10-21 2019-07-09 维里纳塔健康公司 用于在确定拷贝数变异中改善检测的灵敏度的方法
AU2014346562B2 (en) 2013-11-07 2018-11-29 The Board Of Trustees Of The Leland Stanford Junior University Cell-free nucleic acids for the analysis of the human microbiome and components thereof
EP3690061B1 (en) 2014-05-30 2025-01-01 Verinata Health, Inc. Detecting, optionally fetal, sub-chromosomal aneuploidies and copy number variations
EP4358097A1 (en) 2014-07-25 2024-04-24 University of Washington Methods of determining tissues and/or cell types giving rise to cell-free dna, and methods of identifying a disease or disorder using same
US11783911B2 (en) 2014-07-30 2023-10-10 Sequenom, Inc Methods and processes for non-invasive assessment of genetic variations
EP3502273B1 (en) 2014-12-12 2020-07-08 Verinata Health, Inc. Cell-free dna fragment
JP6873921B2 (ja) 2015-05-18 2021-05-19 カリウス・インコーポレイテッド 核酸の集団を濃縮するための組成物および方法
KR101678962B1 (ko) * 2015-08-21 2016-12-06 이승재 대규모 병렬형 게놈서열분석 방법을 이용한 비침습적 산전검사 장치 및 방법
US10095831B2 (en) 2016-02-03 2018-10-09 Verinata Health, Inc. Using cell-free DNA fragment size to determine copy number variations
EP3978627A1 (en) 2016-03-25 2022-04-06 Karius, Inc. Methods using synthetic nucleic acid spike-ins
WO2018009723A1 (en) * 2016-07-06 2018-01-11 Guardant Health, Inc. Methods for fragmentome profiling of cell-free nucleic acids
CA3030890A1 (en) 2016-07-27 2018-02-01 Sequenom, Inc. Genetic copy number alteration classifications
CA3207879A1 (en) 2017-01-24 2018-08-02 Sequenom, Inc. Methods and processes for assessment of genetic variations
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
WO2018191563A1 (en) 2017-04-12 2018-10-18 Karius, Inc. Sample preparation methods, systems and compositions
CN111526793A (zh) 2017-10-27 2020-08-11 朱诺诊断学公司 用于超低体积液体活检的设备、系统和方法
CN108733979A (zh) * 2017-10-30 2018-11-02 成都凡迪医疗器械有限公司 Nipt的gc含量校准方法、装置及计算机可读存储介质
US12590326B2 (en) 2018-01-10 2026-03-31 Guardant Health, Inc. Methods for fragmentome profiling of cell-free nucleic acids
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AT412476B (de) * 2002-09-24 2005-03-25 Forsch Krebskranke Kinder Verfahren zur herstellung eines virtuellen chromosoms
US7371525B2 (en) 2003-07-29 2008-05-13 The Chinese University Of Hong Kong Compositions and methods for diagnosing and treating severe acute respiratory syndrome (SARS)
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US7901884B2 (en) 2006-05-03 2011-03-08 The Chinese University Of Hong Kong Markers for prenatal diagnosis and monitoring
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Also Published As

Publication number Publication date
EP3573066A1 (en) 2019-11-27
JP6411995B2 (ja) 2018-10-24
CA2866324A1 (en) 2013-09-19
US9218449B2 (en) 2015-12-22
AU2013232123B2 (en) 2014-10-30
HK1204377A1 (en) 2015-11-13
WO2013138527A1 (en) 2013-09-19
EP2825991A4 (en) 2015-09-02
AU2013232123A1 (en) 2013-11-07
EP3573066B1 (en) 2023-09-27
EP2825991B1 (en) 2019-05-15
EP2825991A1 (en) 2015-01-21
JP2015515266A (ja) 2015-05-28
US20130245961A1 (en) 2013-09-19

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