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Article

Inferring combined CNV/SNP haplotypes from genotype data.

Bioinformatics (Oxford, England) - 1 Jun 2010

Su Shu-Yi, Asher Julian E, Jarvelin Marjo-Riita, Froguel Phillipe, Blakemore Alexandra I F, Balding David J, Coin Lachlan J M

Abstract excerpt

MOTIVATION: Copy number variations (CNVs) are increasingly recognized as an substantial source of individual genetic variation, and hence there is a growing interest in investigating the evolutionary history of CNVs as well as their impact on complex disease susceptibility. CNV/SNP haplotypes are critical for this research, but although many methods have been proposed for inferring integer copy number, few have...

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PMID: 20406911
DOI: 10.1093/bioinformatics/btq157
PMCID: PMC2913665

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