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WO2004015609A3 - Methode et systeme de recherche de mutations dans des sequences d'adn et d'interpretation de leurs consequences - Google Patents

Methode et systeme de recherche de mutations dans des sequences d'adn et d'interpretation de leurs consequences Download PDF

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Publication number
WO2004015609A3
WO2004015609A3 PCT/IB2003/003195 IB0303195W WO2004015609A3 WO 2004015609 A3 WO2004015609 A3 WO 2004015609A3 IB 0303195 W IB0303195 W IB 0303195W WO 2004015609 A3 WO2004015609 A3 WO 2004015609A3
Authority
WO
WIPO (PCT)
Prior art keywords
mutations
dna sequences
interpreting
consequences
finding
Prior art date
Legal status (The legal status 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 status listed.)
Ceased
Application number
PCT/IB2003/003195
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English (en)
Other versions
WO2004015609A2 (fr
Inventor
David Atlan
Pascale Benlian
Current Assignee (The listed assignees may be inaccurate. Google has not performed a legal analysis and makes no representation or warranty as to the accuracy of the list.)
Individual
Original Assignee
Individual
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 Individual filed Critical Individual
Priority to AU2003282562A priority Critical patent/AU2003282562A1/en
Publication of WO2004015609A2 publication Critical patent/WO2004015609A2/fr
Anticipated expiration legal-status Critical
Publication of WO2004015609A3 publication Critical patent/WO2004015609A3/fr
Ceased legal-status Critical Current

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Classifications

    • 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)
  • Chemical & Material Sciences (AREA)
  • Analytical Chemistry (AREA)
  • Biophysics (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Health & Medical Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Biotechnology (AREA)
  • Evolutionary Biology (AREA)
  • General Health & Medical Sciences (AREA)
  • Medical Informatics (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Theoretical Computer Science (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Information Retrieval, Db Structures And Fs Structures Therefor (AREA)

Abstract

L'invention concerne une méthode et un système de recherche de mutations dans des séquences d'ADN. La méthode de cette invention permet d'utiliser des fichiers de données brutes à partir de séquenceurs commerciaux ou des fichiers pré-traités de séquenceurs fonctionnant avec un logiciel d'appel de base de manière à rechercher des mutations au moyen de règles et à consulter les mutations dans une base de données qui fait partie de la méthode. Ladite invention a également trait à un système capable de réaliser ladite méthode.
PCT/IB2003/003195 2002-08-02 2003-07-09 Methode et systeme de recherche de mutations dans des sequences d'adn et d'interpretation de leurs consequences Ceased WO2004015609A2 (fr)

Priority Applications (1)

Application Number Priority Date Filing Date Title
AU2003282562A AU2003282562A1 (en) 2002-08-02 2003-07-09 Method and system for finding mutations in dna sequences and interpreting their consequences

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
US40074902P 2002-08-02 2002-08-02
US60/400,749 2002-08-02

Publications (2)

Publication Number Publication Date
WO2004015609A2 WO2004015609A2 (fr) 2004-02-19
WO2004015609A3 true WO2004015609A3 (fr) 2005-05-19

Family

ID=31715698

Family Applications (1)

Application Number Title Priority Date Filing Date
PCT/IB2003/003195 Ceased WO2004015609A2 (fr) 2002-08-02 2003-07-09 Methode et systeme de recherche de mutations dans des sequences d'adn et d'interpretation de leurs consequences

Country Status (2)

Country Link
AU (1) AU2003282562A1 (fr)
WO (1) WO2004015609A2 (fr)

Families Citing this family (10)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
EP1910556A4 (fr) * 2004-07-20 2010-01-20 Conexio 4 Pty Ltd Procédé et appareil d'analyse de séquence d'acide nucléique
ATE551010T1 (de) * 2006-02-24 2012-04-15 Terumo Corp Pfo-schliessvorrichtung
WO2013058907A1 (fr) 2011-10-17 2013-04-25 Good Start Genetics, Inc. Méthodes d'identification de mutations associées à des maladies
US10851414B2 (en) 2013-10-18 2020-12-01 Good Start Genetics, Inc. Methods for determining carrier status
WO2016025818A1 (fr) 2014-08-15 2016-02-18 Good Start Genetics, Inc. Systèmes et procédés pour une analyse génétique
US10429399B2 (en) 2014-09-24 2019-10-01 Good Start Genetics, Inc. Process control for increased robustness of genetic assays
CN113380325A (zh) * 2021-05-26 2021-09-10 杭州电子科技大学 一种基于密码子突变位点检测氨基酸突变的方法
CN115458052B (zh) * 2022-08-16 2023-06-30 珠海横琴铂华医学检验有限公司 基于一代测序的基因突变分析方法、设备和存储介质
CN116935959A (zh) * 2023-04-25 2023-10-24 山东省农业科学院畜牧兽医研究所 Sanger基因测序结果快速判读方法、系统及介质
CN117116342B (zh) * 2023-09-01 2025-11-21 北京优迅医疗器械有限公司 一种校正碱基变异检测结果的方法及其应用

Citations (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2001077381A2 (fr) * 2000-04-11 2001-10-18 Isis Innovation Limited Analyse d'adn

Patent Citations (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2001077381A2 (fr) * 2000-04-11 2001-10-18 Isis Innovation Limited Analyse d'adn

Non-Patent Citations (5)

* Cited by examiner, † Cited by third party
Title
BONFIELD JAMES K ET AL: "Automated detection of point mutations using fluorescent sequence trace subtraction", NUCLEIC ACIDS RESEARCH, vol. 26, no. 14, 15 July 1998 (1998-07-15), pages 3404 - 3409, XP002319446, ISSN: 0305-1048 *
GENE CODES CORPORATION: "SequencherTM version 4.1 for Macintosh Release notes", 2000, pages 1 - 15, XP002319444, Retrieved from the Internet <URL:http://bcr.musc.edu/manuals/Sequencher4.12_Rel_Notes.pdf> [retrieved on 20050214] *
KOSMAN C. ET AL.: "Design and performance overview of SeqScapeTM software for comparative sequencing analysis and mutation detection", May 2001 (2001-05-01), XP002319445, Retrieved from the Internet <URL:http://docs.appliedbiosystems.com/pebiodocs/00103186.pdf> [retrieved on 20050214] *
MOTT RICHARD: "Trace alignment and some of its applications", BIOINFORMATICS (OXFORD), vol. 14, no. 1, 1998, pages 92 - 97, XP002319447, ISSN: 1367-4803 *
NICKERSON DEBORAH A ET AL: "PolyPhred: Automating the detection and genotyping of single nucleotide substitutions using fluorescence-based resequencing", NUCLEIC ACIDS RESEARCH, OXFORD UNIVERSITY PRESS, SURREY, GB, vol. 25, no. 14, 1997, pages 2745 - 2751, XP002152564, ISSN: 0305-1048 *

Also Published As

Publication number Publication date
WO2004015609A2 (fr) 2004-02-19
AU2003282562A1 (en) 2004-02-25

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