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CNV discovery using SNP genotyping arrays.

Abstract:

Genome-wide single nucleotide polymorphism (SNP) genotyping platforms have made an important contribution to population genetics and genetic epidemiology. Recently there has been a realisation that these SNP platforms can also be used for typing copy number variants (CNVs). This allows for 'generalised' genotyping of both SNPs and CNVs simultaneously on a common sample set, with advantages in terms of cost and unified analysis. In this article we review various statistical approaches to calli...

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Publication status:
Published

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Publisher copy:
10.1159/000184722

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Institution:
University of Oxford
Department:
Oxford, MSD, Clinical Medicine, WTC Human Genetics
More by this author
Institution:
University of Oxford
Department:
Oxford, MPLS, Statistics, Clinical Medicine
Journal:
Cytogenetic and genome research
Volume:
123
Issue:
1-4
Pages:
307-312
Publication date:
2008
DOI:
EISSN:
1424-859X
ISSN:
1424-8581
URN:
uuid:8947bbf7-a225-466c-a18c-218d02c553de
Source identifiers:
97500
Local pid:
pubs:97500

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