Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densities.

ABSTRACT:

Background

Enrichment of loci by DNA hybridization-capture, followed by high-throughput sequencing, is an important tool in modern genetics. Currently, the most common targets for enrichment are the protein coding exons represented by the consensus coding DNA sequence (CCDS). The CCDS, however, excludes many actual or computationally predicted coding exons present in other databases, such as RefSeq and Vega, and non-coding functional elements such as untranslated and regulatory regions. The number of variants per base pair (variant density) and our ability to interrogate regions outside of the CCDS regions is consequently less well understood.

Results

We examine capture sequence data from outside of the CCDS regions and find that extremes of GC content that are present in di

SUBMITTER: Bainbridge MN 

PROVIDER: S-EPMC3218830 | biostudies-literature | 2011 Jul

REPOSITORIES: biostudies-literature