Inferring combined CNV/SNP haplotypes from genotype data.

doi:10.1093/bioinformatics/btq157

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...

Topics

Alleles
Chromosomes, Human, Pair 2
DNA Copy Number Variations
Genome, Human
Genotype
Haplotypes
Humans
Male
Polymorphism, Single Nucleotide

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