JP6105485B2 - 胎児の性染色体遺伝子型の非侵襲的出生前同定 - Google Patents

胎児の性染色体遺伝子型の非侵襲的出生前同定 Download PDF

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JP6105485B2
JP6105485B2 JP2013547929A JP2013547929A JP6105485B2 JP 6105485 B2 JP6105485 B2 JP 6105485B2 JP 2013547929 A JP2013547929 A JP 2013547929A JP 2013547929 A JP2013547929 A JP 2013547929A JP 6105485 B2 JP6105485 B2 JP 6105485B2
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ミン デニス ロ ユク
ミン デニス ロ ユク
クン ロッサ チウ ワイ
クン ロッサ チウ ワイ
クワン チー チャン
クワン チー チャン
ボ イン ツィ
ボ イン ツィ
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Chinese University of Hong Kong
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    • 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
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    • 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
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    • 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
    • G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G16B20/50—Mutagenesis
    • 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
    • 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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    • 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
    • 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
    • C12Q2600/158—Expression markers

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  • Life Sciences & Earth Sciences (AREA)
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  • Engineering & Computer Science (AREA)
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  • Chemical & Material Sciences (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
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  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
JP2013547929A 2011-01-05 2012-01-05 胎児の性染色体遺伝子型の非侵襲的出生前同定 Active JP6105485B2 (ja)

Applications Claiming Priority (5)

Application Number Priority Date Filing Date Title
US201161430032P 2011-01-05 2011-01-05
US61/430,032 2011-01-05
US201161475632P 2011-04-14 2011-04-14
US61/475,632 2011-04-14
PCT/IB2012/000015 WO2012093331A1 (en) 2011-01-05 2012-01-05 Noninvasive prenatal genotyping of fetal sex chromosomes

Publications (3)

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JP2014507134A JP2014507134A (ja) 2014-03-27
JP2014507134A5 JP2014507134A5 (enExample) 2014-09-04
JP6105485B2 true JP6105485B2 (ja) 2017-04-05

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JP2013547929A Active JP6105485B2 (ja) 2011-01-05 2012-01-05 胎児の性染色体遺伝子型の非侵襲的出生前同定

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US (3) US10152568B2 (enExample)
EP (3) EP3901955B1 (enExample)
JP (1) JP6105485B2 (enExample)
CN (1) CN103459614B (enExample)
AU (1) AU2012204748C1 (enExample)
CA (1) CA2823618C (enExample)
WO (1) WO2012093331A1 (enExample)

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US10424394B2 (en) 2011-10-06 2019-09-24 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
ES2670544T3 (es) * 2013-02-28 2018-05-30 The Chinese University Of Hong Kong Análisis de transcriptoma de plasma materno por secuenciación masiva en paralelo de ARN
DK3011051T3 (en) 2013-06-21 2019-04-23 Sequenom Inc Method for non-invasive evaluation of genetic variations
US10612080B2 (en) * 2014-09-22 2020-04-07 Roche Molecular Systems, Inc. Digital PCR for non-invasive prenatal testing
US10208339B2 (en) * 2015-02-19 2019-02-19 Takara Bio Usa, Inc. Systems and methods for whole genome amplification
WO2017012544A1 (en) * 2015-07-20 2017-01-26 The Chinese University Of Hong Kong Methylation pattern analysis of haplotypes in tissues in dna mixture
CA3037366A1 (en) 2016-09-29 2018-04-05 Myriad Women's Health, Inc. Noninvasive prenatal screening using dynamic iterative depth optimization
MY208464A (en) * 2016-11-18 2025-05-11 Univ Hong Kong Chinese Universal haplotype-based noninvasive prenatal testing for single gene diseases
EP3998350B1 (en) 2017-03-17 2025-05-07 Sequenom, Inc. Methods and processes for assessment of genetic mosaicism
AU2018355575A1 (en) 2017-10-27 2020-05-21 Juno Diagnostics, Inc. Devices, systems and methods for ultra-low volume liquid biopsy
CA3095030A1 (en) 2018-03-30 2019-10-03 Juno Diagnostics, Inc. Deep learning-based methods, devices, and systems for prenatal testing
WO2020002621A2 (en) 2018-06-29 2020-01-02 F. Hoffmann-La Roche Ag Detection of microsatellite instability
WO2020090947A1 (ja) * 2018-10-31 2020-05-07 合同会社みらか中央研究所 プログラム、学習モデル、情報処理装置、情報処理方法、情報表示方法および学習モデルの製造方法
KR102261474B1 (ko) * 2019-07-12 2021-06-07 주식회사 젠큐릭스 자동 경계화를 이용한 데이터 처리 방법 및 시스템
CN110993024B (zh) * 2019-12-20 2023-08-22 北京科迅生物技术有限公司 建立胎儿浓度校正模型的方法及装置与胎儿浓度定量的方法及装置
CN117711488B (zh) * 2023-11-29 2024-07-02 东莞博奥木华基因科技有限公司 一种基于长读长测序的基因单倍型检测方法及其应用
WO2025234041A1 (ja) * 2024-05-09 2025-11-13 株式会社日立ハイテク 対象核酸を検出する方法、および対象核酸検出システム

Family Cites Families (12)

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Publication number Priority date Publication date Assignee Title
GB9704444D0 (en) 1997-03-04 1997-04-23 Isis Innovation Non-invasive prenatal diagnosis
US6440706B1 (en) 1999-08-02 2002-08-27 Johns Hopkins University Digital amplification
JP2001269196A (ja) * 2000-03-24 2001-10-02 Hamamatsu Photonics Kk 被検体核酸の定量方法、および被検体核酸の分子数の計数方法
US20030180765A1 (en) 2002-02-01 2003-09-25 The Johns Hopkins University Digital amplification for detection of mismatch repair deficient tumor cells
US6977162B2 (en) 2002-03-01 2005-12-20 Ravgen, Inc. Rapid analysis of variations in a genome
US7727720B2 (en) 2002-05-08 2010-06-01 Ravgen, Inc. Methods for detection of genetic disorders
AU2004270220B2 (en) 2003-09-05 2009-03-05 The Chinese University Of Hong Kong Method for non-invasive prenatal diagnosis
US20050282213A1 (en) * 2003-09-22 2005-12-22 Trisogen Biotechnology Limited Partnership Methods and kits useful for detecting an alteration in a locus copy number
WO2007092473A2 (en) 2006-02-02 2007-08-16 The Board Of Trustees Of The Leland Stanford Junior University Non-invasive fetal genetic screening by digital analysis
US12054776B2 (en) 2007-07-23 2024-08-06 The Chinese University Of Hong Kong Diagnosing fetal chromosomal aneuploidy using massively parallel genomic sequencing
WO2010018465A2 (en) 2008-08-12 2010-02-18 Stokes Bio Limited Methods and devices for digital pcr
EP2854058A3 (en) * 2010-05-18 2015-10-28 Natera, Inc. Methods for non-invasive pre-natal ploidy calling

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Publication number Publication date
US10152568B2 (en) 2018-12-11
US20190042693A1 (en) 2019-02-07
CA2823618A1 (en) 2012-07-12
EP2661507B1 (en) 2020-04-08
AU2012204748C1 (en) 2021-12-23
EP2661507A1 (en) 2013-11-13
EP2661507A4 (en) 2015-12-23
US20140019064A1 (en) 2014-01-16
EP3680909A1 (en) 2020-07-15
CA2823618C (en) 2022-05-24
US20240420798A1 (en) 2024-12-19
AU2012204748B2 (en) 2015-09-24
EP3901955B1 (en) 2024-10-09
WO2012093331A1 (en) 2012-07-12
CN103459614A (zh) 2013-12-18
JP2014507134A (ja) 2014-03-27
CN103459614B (zh) 2015-12-02
AU2012204748A1 (en) 2013-05-02
EP3901955A1 (en) 2021-10-27
EP3680909B1 (en) 2021-06-30

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