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QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data

Abstract:

Array-based technologies have been used to detect chromosomal copy number changes (aneuploidies) in the human genome. Recent studies identified numerous copy number variants (CNV) and some are common polymorphisms that may contribute to disease susceptibility. We developed, and experimentally validated, a novel computational framework (QuantiSNP) for detecting regions of copy number variation from BeadArray™ SNP genotyping data using an Objective Bayes Hidden-Markov Model (OB-HMM). Objective ...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1093/nar/gkm076

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Institution:
University of Oxford
Division:
MSD
Department:
NDM
Sub department:
Human Genetics Wt Centre
Research group:
Genomics Laboratory
Role:
Author
More by this author
Institution:
University of Oxford
Division:
MPLS
Department:
Statistics
Research group:
Henry Wellcome Centre for Gene Function
Role:
Author
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
NDM
Sub department:
Human Genetics Wt Centre
Research group:
Bioinformatics
Role:
Author
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
NDM
Sub department:
Human Genetics Wt Centre
Research group:
Genomics Laboratory
Role:
Author
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
NDM
Sub department:
Human Genetics Wt Centre
Research group:
Genomics Laboratory
Role:
Author
Expand authors...
Publisher:
Oxford University Press Publisher's website
Journal:
Nucleic Acids Research Journal website
Volume:
35
Issue:
6
Pages:
2013-2025
Publication date:
2007-03-01
DOI:
EISSN:
1362-4962
ISSN:
0305-1048
Language:
English
Keywords:
Subjects:
UUID:
uuid:617962f2-1779-4382-882e-f91a873fbd20
Local pid:
ora:3014
Deposit date:
2009-11-05

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