HK1201300A1 - 利用大規模平行測序靶向技術通過等位基因比率分析對胎兒染色體基因的非侵入性產前診斷 - Google Patents

利用大規模平行測序靶向技術通過等位基因比率分析對胎兒染色體基因的非侵入性產前診斷

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Publication number
HK1201300A1
HK1201300A1 HK15101702.0A HK15101702A HK1201300A1 HK 1201300 A1 HK1201300 A1 HK 1201300A1 HK 15101702 A HK15101702 A HK 15101702A HK 1201300 A1 HK1201300 A1 HK 1201300A1
Authority
HK
Hong Kong
Prior art keywords
massively parallel
parallel sequencing
prenatal diagnosis
ratio analysis
noninvasive prenatal
Prior art date
Application number
HK15101702.0A
Other languages
English (en)
Inventor
Wai Kwun Rossa Chiu
Jiawei Liao
Kwan Chee Chan
Yuk Ming Dennis Lo
Original Assignee
Univ Hong Kong Chinese
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
Application filed by Univ Hong Kong Chinese filed Critical Univ Hong Kong Chinese
Publication of HK1201300A1 publication Critical patent/HK1201300A1/zh

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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
    • 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
    • C12Q1/6869—Methods for sequencing
    • 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
    • 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
    • G16B20/40—Population genetics; Linkage disequilibrium
    • 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
    • G16B25/00—ICT specially adapted for hybridisation; ICT specially adapted for gene or protein expression
    • 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
    • G16B30/00—ICT specially adapted for sequence analysis involving nucleotides or amino acids
    • G16B30/10—Sequence alignment; Homology search
    • 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
    • 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)
  • Chemical & Material Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Physics & Mathematics (AREA)
  • Engineering & Computer Science (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Organic Chemistry (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Biophysics (AREA)
  • Biotechnology (AREA)
  • General Health & Medical Sciences (AREA)
  • Analytical Chemistry (AREA)
  • Genetics & Genomics (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • Molecular Biology (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Theoretical Computer Science (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Medical Informatics (AREA)
  • Evolutionary Biology (AREA)
  • Microbiology (AREA)
  • Immunology (AREA)
  • General Engineering & Computer Science (AREA)
  • Biochemistry (AREA)
  • Pathology (AREA)
  • Physiology (AREA)
  • Ecology (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Investigating Or Analysing Biological Materials (AREA)
HK15101702.0A 2012-04-06 2015-02-16 利用大規模平行測序靶向技術通過等位基因比率分析對胎兒染色體基因的非侵入性產前診斷 HK1201300A1 (zh)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
US201261621454P 2012-04-06 2012-04-06
PCT/IB2013/052804 WO2013150503A1 (en) 2012-04-06 2013-04-08 Noninvasive prenatal diagnosis of fetal trisomy by allelic ratio analysis using targeted massively parallel sequencing

Publications (1)

Publication Number Publication Date
HK1201300A1 true HK1201300A1 (zh) 2015-08-28

Family

ID=49292781

Family Applications (3)

Application Number Title Priority Date Filing Date
HK15101702.0A HK1201300A1 (zh) 2012-04-06 2015-02-16 利用大規模平行測序靶向技術通過等位基因比率分析對胎兒染色體基因的非侵入性產前診斷
HK15105203.5A HK1204658A1 (zh) 2012-04-06 2015-06-01 通過使用靶向大規模並行測序的等位基因比率分析進行的胎兒三體性的非侵入性產前診斷
HK18105280.8A HK1245851A1 (zh) 2012-04-06 2018-04-23 通過使用靶向大規模並行測序的等位基因比率分析進行的胎兒三體性的非侵入性產前診斷

Family Applications After (2)

Application Number Title Priority Date Filing Date
HK15105203.5A HK1204658A1 (zh) 2012-04-06 2015-06-01 通過使用靶向大規模並行測序的等位基因比率分析進行的胎兒三體性的非侵入性產前診斷
HK18105280.8A HK1245851A1 (zh) 2012-04-06 2018-04-23 通過使用靶向大規模並行測序的等位基因比率分析進行的胎兒三體性的非侵入性產前診斷

Country Status (10)

Country Link
US (3) US20130267425A1 (zh)
EP (2) EP3178945B1 (zh)
JP (1) JP6073461B2 (zh)
CN (2) CN104640997B (zh)
AU (2) AU2013245272B2 (zh)
CA (1) CA2869371C (zh)
ES (1) ES2623089T3 (zh)
HK (3) HK1201300A1 (zh)
TR (1) TR201815541T4 (zh)
WO (1) WO2013150503A1 (zh)

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US9418203B2 (en) * 2013-03-15 2016-08-16 Cypher Genomics, Inc. Systems and methods for genomic variant annotation
GB2520765A (en) * 2013-12-02 2015-06-03 Vanadis Diagnostics Ab Multiplex detection of nucleic acids
GB2524948A (en) * 2014-03-07 2015-10-14 Oxford Gene Technology Operations Ltd Detecting Increase or Decrease in the Amount of a Nucleic Acid having a Sequence of Interest
EP3656875B1 (en) 2014-07-18 2021-09-22 Illumina, Inc. Non-invasive prenatal diagnosis
US10319463B2 (en) 2015-01-23 2019-06-11 The Chinese University Of Hong Kong Combined size- and count-based analysis of maternal plasma for detection of fetal subchromosomal aberrations
US10395759B2 (en) 2015-05-18 2019-08-27 Regeneron Pharmaceuticals, Inc. Methods and systems for copy number variant detection
JP7170711B2 (ja) * 2017-04-18 2022-11-14 アジレント・テクノロジーズ・ベルジャム・ナムローゼ・フェンノートシャップ Ｄｎａ分析のためのオフターゲット配列の使用
EP3662480A4 (en) * 2017-08-04 2021-05-19 BillionToOne, Inc. TARGET-ASSOCIATED MOLECULES FOR CHARACTERIZATION IN CONNECTION WITH BIOLOGICAL TARGETS
AU2018312117B2 (en) * 2017-08-04 2022-05-12 Billiontoone, Inc. Sequencing output determination and analysis with target-associated molecules in quantification associated with biological targets
CA3143728A1 (en) * 2019-06-21 2020-12-24 Coopersurgical, Inc. System and method for determining genetic relationships between a sperm provider, oocyte provider, and the respective conceptus
JP7467504B2 (ja) * 2019-12-31 2024-04-15 ビージーアイ、クリニカル、ラボラトリーズ、（シェンチェン）、カンパニー、リミテッド 染色体異数性を判定するためおよび分類モデルを構築するための方法およびデバイス
CN114645080A (zh) * 2020-12-21 2022-06-21 高嵩 一种利用多态性位点和靶位点测序检测胎儿遗传变异的方法

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US5641628A (en) * 1989-11-13 1997-06-24 Children's Medical Center Corporation Non-invasive method for isolation and detection of fetal DNA
US6440706B1 (en) 1999-08-02 2002-08-27 Johns Hopkins University Digital amplification
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
CN1930303B (zh) * 2003-10-08 2013-11-20 波士顿大学信托人 染色体异常的产前诊断试剂盒
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
PT2385143T (pt) 2006-02-02 2016-10-18 Univ Leland Stanford Junior Rastreio genético fetal não-invasivo por análise digital
CA2694007C (en) * 2007-07-23 2019-02-26 The Chinese University Of Hong Kong Determining a nucleic acid sequence imbalance
US8825412B2 (en) * 2010-05-18 2014-09-02 Natera, Inc. Methods for non-invasive prenatal ploidy calling
CN102985561B (zh) * 2011-04-14 2015-04-01 维里纳塔健康公司 用于确定并且验证常见的和罕见的染色体非整倍性的归一化染色体

Also Published As

Publication number Publication date
AU2018204344B2 (en) 2018-09-27
JP2015521028A (ja) 2015-07-27
EP3178945B1 (en) 2018-10-17
AU2013245272B2 (en) 2018-04-05
CN104640997A (zh) 2015-05-20
US20200063207A1 (en) 2020-02-27
ES2623089T3 (es) 2017-07-10
HK1204658A1 (zh) 2015-11-27
CN104640997B (zh) 2017-12-19
EP3178945A1 (en) 2017-06-14
CN107841543A (zh) 2018-03-27
EP2834376B1 (en) 2017-03-15
JP6073461B2 (ja) 2017-02-01
US10501797B2 (en) 2019-12-10
CA2869371A1 (en) 2013-10-10
CA2869371C (en) 2021-01-12
AU2013245272A1 (en) 2014-10-23
EP2834376A1 (en) 2015-02-11
US20160201134A1 (en) 2016-07-14
HK1245851A1 (zh) 2018-08-31
WO2013150503A1 (en) 2013-10-10
US20130267425A1 (en) 2013-10-10
AU2018204344A1 (en) 2018-07-05
CN107841543B (zh) 2021-12-31
TR201815541T4 (tr) 2018-11-21
EP2834376A4 (en) 2015-11-18

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