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WO2004015609A3 - Method and system for finding mutations in dna sequences and interpreting their consequences - Google Patents

Method and system for finding mutations in dna sequences and interpreting their 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
Other languages
French (fr)
Other versions
WO2004015609A2 (en
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/en
Anticipated expiration legal-status Critical
Publication of WO2004015609A3 publication Critical patent/WO2004015609A3/en
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

A method and a system for finding mutations in DNA sequences. The invention uses either raw data files from commercial sequencers or pre-processed files of sequencers run through a base calling software to search for mutations using rules and looking-up the mutations in a database which is part of the method. A system capable of performing the method is provided as well.
PCT/IB2003/003195 2002-08-02 2003-07-09 Method and system for finding mutations in dna sequences and interpreting their consequences Ceased WO2004015609A2 (en)

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 (en) 2004-02-19
WO2004015609A3 true WO2004015609A3 (en) 2005-05-19

Family

ID=31715698

Family Applications (1)

Application Number Title Priority Date Filing Date
PCT/IB2003/003195 Ceased WO2004015609A2 (en) 2002-08-02 2003-07-09 Method and system for finding mutations in dna sequences and interpreting their consequences

Country Status (2)

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

Families Citing this family (10)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
EP1910556A4 (en) * 2004-07-20 2010-01-20 Conexio 4 Pty Ltd Method and apparatus for analysing nucleic acid sequence
EP2368509B1 (en) * 2006-02-24 2015-07-01 Terumo Kabushiki Kaisha PFO closing device
EP2768983A4 (en) 2011-10-17 2015-06-03 Good Start Genetics Inc Analysis methods
US10851414B2 (en) 2013-10-18 2020-12-01 Good Start Genetics, Inc. Methods for determining carrier status
WO2016025818A1 (en) * 2014-08-15 2016-02-18 Good Start Genetics, Inc. Systems and methods for genetic analysis
JP2017536087A (en) 2014-09-24 2017-12-07 グッド スタート ジェネティクス， インコーポレイテッド Process control to increase the robustness of genetic assays
CN113380325A (en) * 2021-05-26 2021-09-10 杭州电子科技大学 Method for detecting amino acid mutation based on codon mutation site
CN115458052B (en) * 2022-08-16 2023-06-30 珠海横琴铂华医学检验有限公司 Gene mutation analysis method, device and storage medium based on first generation sequencing
CN116935959A (en) * 2023-04-25 2023-10-24 山东省农业科学院畜牧兽医研究所 Methods, systems and media for rapid interpretation of Sanger gene sequencing results
CN117116342B (en) * 2023-09-01 2025-11-21 北京优迅医疗器械有限公司 Method for correcting base variation detection result and application thereof

Citations (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2001077381A2 (en) * 2000-04-11 2001-10-18 Isis Innovation Limited Dna analysis for determination of ancestry

Patent Citations (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2001077381A2 (en) * 2000-04-11 2001-10-18 Isis Innovation Limited Dna analysis for determination of ancestry

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 (en) 2004-02-19
AU2003282562A1 (en) 2004-02-25

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