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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 B...

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Publication status:
Published

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Publisher copy:
10.1093/nar/gkm076

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Institution:
University of Oxford
Department:
Oxford, MSD, Clinical Medicine, WTC Human Genetics
Role:
Author
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Journal:
Nucleic acids research
Volume:
35
Issue:
6
Pages:
2013-2025
Publication date:
2007-01-01
DOI:
EISSN:
1362-4962
ISSN:
0305-1048
URN:
uuid:a3b30fd7-f6d1-4d7b-8de4-55a10d3e8817
Source identifiers:
71824
Local pid:
pubs:71824

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