JP6411995B2 - 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 - Google Patents

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 Download PDF

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JP6411995B2
JP6411995B2 JP2015500578A JP2015500578A JP6411995B2 JP 6411995 B2 JP6411995 B2 JP 6411995B2 JP 2015500578 A JP2015500578 A JP 2015500578A JP 2015500578 A JP2015500578 A JP 2015500578A JP 6411995 B2 JP6411995 B2 JP 6411995B2
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JP2015515266A (ja
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ジャーン チェン
ジャーン チェン
ユク ミン デニス ロー
ユク ミン デニス ロー
クワン チー チャン
クワン チー チャン
ウェンリ ジュヨン
ウェンリ ジュヨン
ハオ スン
ハオ スン
ワイ クン ロッサ チウ
ワイ クン ロッサ チウ
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Chinese University of Hong Kong
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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)
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JP2015500578A 2012-03-13 2013-03-13 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 Active JP6411995B2 (ja)

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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

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JP2015515266A JP2015515266A (ja) 2015-05-28
JP2015515266A5 JP2015515266A5 (enExample) 2015-12-10
JP6411995B2 true JP6411995B2 (ja) 2018-10-24

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US (1) US9218449B2 (enExample)
EP (2) EP2825991B1 (enExample)
JP (1) JP6411995B2 (enExample)
AU (1) AU2013232123B2 (enExample)
CA (1) CA2866324C (enExample)
WO (1) WO2013138527A1 (enExample)

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US10196681B2 (en) 2011-10-06 2019-02-05 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
ES2929923T3 (es) 2012-01-20 2022-12-02 Sequenom Inc Procesos de diagnóstico que condicionan las condiciones experimentales
US10504613B2 (en) 2012-12-20 2019-12-10 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US9920361B2 (en) 2012-05-21 2018-03-20 Sequenom, Inc. Methods and compositions for analyzing nucleic acid
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
EP4187543A1 (en) 2013-04-03 2023-05-31 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
AU2014268377B2 (en) 2013-05-24 2020-10-08 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
DK3011051T3 (en) 2013-06-21 2019-04-23 Sequenom Inc Method for non-invasive evaluation of genetic variations
US10964409B2 (en) 2013-10-04 2021-03-30 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
JP6680680B2 (ja) 2013-10-07 2020-04-15 セクエノム， インコーポレイテッド 染色体変化の非侵襲性評価のための方法およびプロセス
JP6534191B2 (ja) * 2013-10-21 2019-06-26 ベリナタ ヘルス インコーポレイテッド コピー数変動を決定することにおける検出の感度を向上させるための方法
KR102205950B1 (ko) 2013-11-07 2021-01-22 더 보드 어브 트러스티스 어브 더 리랜드 스탠포드 주니어 유니버시티 인간 마이크로바이옴 및 그의 성분의 분석을 위한 무세포 핵산
WO2015184404A1 (en) 2014-05-30 2015-12-03 Verinata Health, Inc. Detecting fetal sub-chromosomal aneuploidies and copy number variations
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
US11783911B2 (en) 2014-07-30 2023-10-10 Sequenom, Inc Methods and processes for non-invasive assessment of genetic variations
DK3230469T3 (da) 2014-12-12 2019-07-15 Verinata Health Inc Anvendelse af cellefri DNA-fragmentstørrelse til bestemmelse af kopiantalsvariationer
EP3298169B1 (en) 2015-05-18 2024-10-02 Karius, Inc. Compositions and methods for enriching populations of nucleic acids
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
KR102326769B1 (ko) 2016-03-25 2021-11-17 카리우스, 인코포레이티드 합성 핵산 스파이크-인
ES2967443T3 (es) * 2016-07-06 2024-04-30 Guardant Health Inc Procedimientos de perfilado de fragmentoma de ácidos nucleicos sin células
US11200963B2 (en) 2016-07-27 2021-12-14 Sequenom, Inc. Genetic copy number alteration classifications
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US9218449B2 (en) 2015-12-22
EP2825991A1 (en) 2015-01-21
EP3573066A1 (en) 2019-11-27
AU2013232123A1 (en) 2013-11-07
EP2825991A4 (en) 2015-09-02
US20130245961A1 (en) 2013-09-19
JP2015515266A (ja) 2015-05-28
CA2866324A1 (en) 2013-09-19
AU2013232123B2 (en) 2014-10-30
HK1204377A1 (en) 2015-11-13
CA2866324C (en) 2019-01-15
EP3573066B1 (en) 2023-09-27
WO2013138527A1 (en) 2013-09-19
EP2825991B1 (en) 2019-05-15

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