Copy Number Variation detection from 1000 Genomes Project exon capture sequencing data.

ABSTRACT:

Background

DNA capture technologies combined with high-throughput sequencing now enable cost-effective, deep-coverage, targeted sequencing of complete exomes. This is well suited for SNP discovery and genotyping. However there has been little attention devoted to Copy Number Variation (CNV) detection from exome capture datasets despite the potentially high impact of CNVs in exonic regions on protein function.

Results

As members of the 1000 Genomes Project analysis effort, we investigated 697 samples in which 931 genes were targeted and sampled with 454 or Illumina paired-end sequencing. We developed a rigorous Bayesian method to detect CNVs in the genes, based on read depth within target regions. Despite substantial variability in read coverage across samples and targeted ex

SUBMITTER: Wu J 

PROVIDER: S-EPMC3563612 | biostudies-literature | 2012 Nov

REPOSITORIES: biostudies-literature