WO2008093521A8 - 遺伝子検査結果判定法およびプログラムおよびその装置 - Google Patents

遺伝子検査結果判定法およびプログラムおよびその装置 Download PDF

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Publication number
WO2008093521A8
WO2008093521A8 PCT/JP2008/050166 JP2008050166W WO2008093521A8 WO 2008093521 A8 WO2008093521 A8 WO 2008093521A8 JP 2008050166 W JP2008050166 W JP 2008050166W WO 2008093521 A8 WO2008093521 A8 WO 2008093521A8
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WIPO (PCT)
Prior art keywords
alleles
examination data
same
program therefor
gene examination
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PCT/JP2008/050166
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English (en)
French (fr)
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WO2008093521A1 (ja
Inventor
Kohshi Maeda
Shinichi Fukuzono
Kokichi Sugano
Original Assignee
Hitachi High Tech Corp
Tochigi Prefectural Office
Kohshi Maeda
Shinichi Fukuzono
Kokichi Sugano
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.)
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Publication date
Application filed by Hitachi High Tech Corp, Tochigi Prefectural Office, Kohshi Maeda, Shinichi Fukuzono, Kokichi Sugano filed Critical Hitachi High Tech Corp
Priority to US12/524,681 priority Critical patent/US20100255468A1/en
Publication of WO2008093521A1 publication Critical patent/WO2008093521A1/ja
Publication of WO2008093521A8 publication Critical patent/WO2008093521A8/ja

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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
    • C12Q1/6813—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
    • 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
    • G16B20/10—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
    • G16B20/40—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
    • G16B30/00—ICT specially adapted for sequence analysis involving nucleotides or amino acids

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  • Life Sciences & Earth Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Physics & Mathematics (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • General Health & Medical Sciences (AREA)
  • Analytical Chemistry (AREA)
  • Molecular Biology (AREA)
  • Biophysics (AREA)
  • Organic Chemistry (AREA)
  • Biotechnology (AREA)
  • Genetics & Genomics (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Medical Informatics (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Theoretical Computer Science (AREA)
  • Evolutionary Biology (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • Immunology (AREA)
  • Microbiology (AREA)
  • Biochemistry (AREA)
  • General Engineering & Computer Science (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Apparatus Associated With Microorganisms And Enzymes (AREA)
  • Management, Administration, Business Operations System, And Electronic Commerce (AREA)

Abstract

　本発明は、標準試料と検査試料とで対立遺伝子の量比の変化量を比較して、染色体異常の有無を判定する遺伝子検査（特に検査結果が閾値前後であった場合）において、高い信頼性及び特異性で判定するための手段を提供する。本発明では、連鎖する２以上、好ましくは３以上の多型部位について、対立遺伝子の変化量から、標準試料に比較して遺伝子量が変化した対立遺伝子をそれぞれ決定し、前記対立遺伝子の組合せをハプロタイプと仮定した場合の発生頻度に基づいて染色体異常の有無を判定する。
PCT/JP2008/050166 2007-01-31 2008-01-10 遺伝子検査結果判定法およびプログラムおよびその装置 WO2008093521A1 (ja)

Priority Applications (1)

Application Number Priority Date Filing Date Title
US12/524,681 US20100255468A1 (en) 2007-01-31 2008-01-10 Method of assessing gene examination data, program therefor and apparatus of the same

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
JP2007-021407 2007-01-31
JP2007021407A JP4922778B2 (ja) 2007-01-31 2007-01-31 遺伝子検査結果判定法およびプログラムおよびその装置

Publications (2)

Publication Number Publication Date
WO2008093521A1 WO2008093521A1 (ja) 2008-08-07
WO2008093521A8 true WO2008093521A8 (ja) 2009-07-16

Family

ID=39673835

Family Applications (1)

Application Number Title Priority Date Filing Date
PCT/JP2008/050166 WO2008093521A1 (ja) 2007-01-31 2008-01-10 遺伝子検査結果判定法およびプログラムおよびその装置

Country Status (3)

Country Link
US (1) US20100255468A1 (ja)
JP (1) JP4922778B2 (ja)
WO (1) WO2008093521A1 (ja)

Families Citing this family (3)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US9646134B2 (en) 2010-05-25 2017-05-09 The Regents Of The University Of California Bambam: parallel comparative analysis of high-throughput sequencing data
KR102042253B1 (ko) 2010-05-25 2019-11-07 더 리젠츠 오브 더 유니버시티 오브 캘리포니아 Ｂａｍｂａｍ：고처리율 서열분석 데이터의 병렬 비교 분석
JP6097951B2 (ja) 2013-08-22 2017-03-22 富士フイルム株式会社 幹細胞分化判定装置および方法並びにプログラム

Family Cites Families (8)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US6027913A (en) * 1988-01-28 2000-02-22 Sommer; Steven S. Nucleic acid amplification with direct sequencing
US7393634B1 (en) * 1999-10-12 2008-07-01 United States Of America As Represented By The Secretary Of The Air Force Screening for disease susceptibility by genotyping the CCR5 and CCR2 genes
JP4058508B2 (ja) * 1999-10-15 2008-03-12 国立がんセンター総長 遺伝子検査方法及び遺伝子検査装置
US20030082616A1 (en) * 1999-10-15 2003-05-01 Hitachi, Ltd. Apparatus and method for analyzing nucleic acids and related genetic abnormality
JP2006523082A (ja) * 2002-03-01 2006-10-12 ラブジェン， インコーポレイテッド ゲノム内の変異の迅速分析
US6977162B2 (en) * 2002-03-01 2005-12-20 Ravgen, Inc. Rapid analysis of variations in a genome
US20050042654A1 (en) * 2003-06-27 2005-02-24 Affymetrix, Inc. Genotyping methods
JP4777631B2 (ja) * 2004-09-27 2011-09-21 株式会社日立ハイテクノロジーズ 核酸増幅分析法および装置

Also Published As

Publication number Publication date
WO2008093521A1 (ja) 2008-08-07
JP4922778B2 (ja) 2012-04-25
JP2008182993A (ja) 2008-08-14
US20100255468A1 (en) 2010-10-07

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