Identification and validation of copy number variants using SNP genotyping arrays from a large clinical cohort.

ABSTRACT:

Background

Genotypes obtained with commercial SNP arrays have been extensively used in many large case-control or population-based cohorts for SNP-based genome-wide association studies for a multitude of traits. Yet, these genotypes capture only a small fraction of the variance of the studied traits. Genomic structural variants (GSV) such as Copy Number Variation (CNV) may account for part of the missing heritability, but their comprehensive detection requires either next-generation arrays or sequencing. Sophisticated algorithms that infer CNVs by combining the intensities from SNP-probes for the two alleles can already be used to extract a partial view of such GSV from existing data sets.

Results

Here we present several advances to facilitate the latter approach. First, we

SUBMITTER: Valsesia A 

PROVIDER: S-EPMC3464625 | biostudies-literature | 2012 Jun

REPOSITORIES: biostudies-literature