Variant discovery in targeted resequencing using whole genome amplified DNA.

ABSTRACT:

Background

Next generation sequencing and advances in genomic enrichment technologies have enabled the discovery of the full spectrum of variants from common to rare alleles in the human population. The application of such technologies can be limited by the amount of DNA available. Whole genome amplification (WGA) can overcome such limitations. Here we investigate applicability of using WGA by comparing SNP and INDEL variant calls from a single genomic/WGA sample pair from two capture separate experiments: a 50 Mbp whole exome capture and a custom capture array of 4 Mbp region on chr12.

Results

Our results comparing variant calls derived from genomic and WGA DNA show that the majority of variant SNP and INDEL calls are common to both callsets, both at the site and genotype l

SUBMITTER: Indap AR 

PROVIDER: S-EPMC3716764 | biostudies-literature | 2013 Jul

REPOSITORIES: biostudies-literature