Screening the human exome: a comparison of whole genome and whole transcriptome sequencing.

ABSTRACT:

Background

There is considerable interest in the development of methods to efficiently identify all coding variants present in large sample sets of humans. There are three approaches possible: whole-genome sequencing, whole-exome sequencing using exon capture methods, and RNA-Seq. While whole-genome sequencing is the most complete, it remains sufficiently expensive that cost effective alternatives are important.

Results

Here we provide a systematic exploration of how well RNA-Seq can identify human coding variants by comparing variants identified through high coverage whole-genome sequencing to those identified by high coverage RNA-Seq in the same individual. This comparison allowed us to directly evaluate the sensitivity and specificity of RNA-Seq in identifying coding vari

SUBMITTER: Cirulli ET 

PROVIDER: S-EPMC2898068 | biostudies-literature | 2010

REPOSITORIES: biostudies-literature