HK1196401A1 - 確定胎兒基因組中預定區域鹼基信息的方法、系統和計算機可讀介質 - Google Patents

確定胎兒基因組中預定區域鹼基信息的方法、系統和計算機可讀介質

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Publication number
HK1196401A1
HK1196401A1 HK14109781.8A HK14109781A HK1196401A1 HK 1196401 A1 HK1196401 A1 HK 1196401A1 HK 14109781 A HK14109781 A HK 14109781A HK 1196401 A1 HK1196401 A1 HK 1196401A1
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Hong Kong
Prior art keywords
computer readable
readable medium
predetermined area
base information
determining base
Prior art date
Application number
HK14109781.8A
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English (en)
Inventor
陳盛培
葛會娟
李旭超
易賞
汪建
王俊
楊煥明
張秀清
Original Assignee
深圳華大基因股份有限公司 號 層-
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Publication of HK1196401A1 publication Critical patent/HK1196401A1/zh

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    • 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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    • C12Q1/6869—Methods for sequencing
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    • G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
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    • 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
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    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
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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
    • G16B30/00—ICT specially adapted for sequence analysis involving nucleotides or amino acids
    • G16B30/20—Sequence assembly
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    • G16H—HEALTHCARE INFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR THE HANDLING OR PROCESSING OF MEDICAL OR HEALTHCARE DATA
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    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/118—Prognosis of disease development
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    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/156—Polymorphic or mutational markers

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  • Life Sciences & Earth Sciences (AREA)
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  • Engineering & Computer Science (AREA)
  • Chemical & Material Sciences (AREA)
  • Physics & Mathematics (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • General Health & Medical Sciences (AREA)
  • Medical Informatics (AREA)
  • Analytical Chemistry (AREA)
  • Biophysics (AREA)
  • Biotechnology (AREA)
  • Organic Chemistry (AREA)
  • Bioinformatics & Computational Biology (AREA)
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  • Spectroscopy & Molecular Physics (AREA)
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  • Wood Science & Technology (AREA)
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  • General Engineering & Computer Science (AREA)
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  • Microbiology (AREA)
  • Biochemistry (AREA)
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  • Epidemiology (AREA)
  • Databases & Information Systems (AREA)
  • Data Mining & Analysis (AREA)
  • Primary Health Care (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Artificial Intelligence (AREA)
  • Bioethics (AREA)
  • Computer Vision & Pattern Recognition (AREA)
  • Evolutionary Computation (AREA)
  • Software Systems (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Apparatus Associated With Microorganisms And Enzymes (AREA)
HK14109781.8A 2012-05-14 2014-09-29 確定胎兒基因組中預定區域鹼基信息的方法、系統和計算機可讀介質 HK1196401A1 (zh)

Applications Claiming Priority (1)

Application Number Priority Date Filing Date Title
PCT/CN2012/075478 WO2013170429A1 (zh) 2012-05-14 2012-05-14 确定胎儿基因组中预定区域碱基信息的方法、系统和计算机可读介质

Publications (1)

Publication Number Publication Date
HK1196401A1 true HK1196401A1 (zh) 2014-12-12

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HK14109781.8A HK1196401A1 (zh) 2012-05-14 2014-09-29 確定胎兒基因組中預定區域鹼基信息的方法、系統和計算機可讀介質

Country Status (12)

Country Link
US (2) US20150094210A1 (zh)
EP (1) EP2851431B1 (zh)
JP (1) JP6045686B2 (zh)
KR (1) KR101770460B1 (zh)
CN (1) CN104053789B (zh)
AU (1) AU2012380221B2 (zh)
ES (1) ES2656023T3 (zh)
HK (1) HK1196401A1 (zh)
PL (1) PL2851431T3 (zh)
RU (1) RU2597981C2 (zh)
SG (1) SG11201407515RA (zh)
WO (1) WO2013170429A1 (zh)

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* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US20160026759A1 (en) * 2014-07-22 2016-01-28 Yourgene Bioscience Detecting Chromosomal Aneuploidy
CN107922959A (zh) * 2015-07-02 2018-04-17 阿瑞玛基因组学公司 混合物样品的精确分子去卷积
CN106011244B (zh) * 2016-05-31 2019-07-16 中国人民解放军军事医学科学院放射与辐射医学研究所 检测7q21.13区域SNP试剂的应用
CA3213915A1 (en) * 2016-09-22 2018-03-29 Illumina, Inc. Somatic copy number variation detection
TWI675918B (zh) * 2016-11-18 2019-11-01 香港中文大學 基於單倍型之通用非侵入性單基因疾病產前檢測
CN108048541B (zh) * 2018-01-25 2020-11-20 广州精科医学检验所有限公司 确定胎儿alpha地中海贫血基因单体型的系统
CN110349631B (zh) * 2019-07-30 2021-10-29 苏州亿康医学检验有限公司 确定子代对象的单体型的分析方法和装置
EP4357461A3 (en) * 2019-08-16 2024-07-03 The Chinese University Of Hong Kong Determination of base modifications of nucleic acids
JP7539985B2 (ja) * 2019-11-29 2024-08-26 ジーシー ジェノム コーポレーション 人工知能ベースの染色体異常検出方法
CN113308548B (zh) * 2021-01-26 2023-03-28 天津华大医学检验所有限公司 一种检测胎儿基因单倍体型的方法、装置和存储介质
CN112885408A (zh) * 2021-02-22 2021-06-01 中国农业大学 一种基于低深度测序检测snp标记位点的方法及装置
WO2023225951A1 (zh) * 2022-05-26 2023-11-30 深圳华大生命科学研究院 基于单体型的胎儿基因型检测方法
CN117392673B (zh) * 2023-12-12 2024-02-13 深圳赛陆医疗科技有限公司 碱基识别方法及装置、基因测序仪及介质

Family Cites Families (7)

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Publication number Priority date Publication date Assignee Title
US20130071837A1 (en) * 2004-10-06 2013-03-21 Stephen N. Winters-Hilt Method and System for Characterizing or Identifying Molecules and Molecular Mixtures
ES2739483T3 (es) * 2006-02-02 2020-01-31 Univ Leland Stanford Junior Detección genética fetal no invasiva mediante análisis digital
US8003326B2 (en) * 2008-01-02 2011-08-23 Children's Medical Center Corporation Method for diagnosing autism spectrum disorder
CA2746632C (en) * 2008-12-11 2020-06-30 Pacific Biosciences Of California, Inc. Characterization of modified nucleic acids
CA2779695C (en) * 2009-11-05 2016-05-24 The Chinese University Of Hong Kong Fetal genomic analysis from a maternal biological sample
US8725422B2 (en) * 2010-10-13 2014-05-13 Complete Genomics, Inc. Methods for estimating genome-wide copy number variations
CN102127818A (zh) * 2010-12-15 2011-07-20 张康 利用孕妇外周血建立胎儿dna文库的方法

Also Published As

Publication number Publication date
CN104053789A (zh) 2014-09-17
EP2851431A1 (en) 2015-03-25
ES2656023T3 (es) 2018-02-22
PL2851431T3 (pl) 2018-04-30
JP2015525062A (ja) 2015-09-03
RU2014150655A (ru) 2016-07-10
JP6045686B2 (ja) 2016-12-14
US20180320235A1 (en) 2018-11-08
EP2851431A4 (en) 2016-01-27
KR101770460B1 (ko) 2017-08-22
AU2012380221B2 (en) 2016-09-29
SG11201407515RA (en) 2014-12-30
RU2597981C2 (ru) 2016-09-20
KR20140146193A (ko) 2014-12-24
EP2851431B1 (en) 2017-12-13
US20150094210A1 (en) 2015-04-02
AU2012380221A1 (en) 2014-11-06
CN104053789B (zh) 2016-02-10
WO2013170429A1 (zh) 2013-11-21

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