Analytical validation of whole exome and whole genome sequencing for clinical applications.

ABSTRACT:

Background

Whole exome and genome sequencing (WES/WGS) is now routinely offered as a clinical test by a growing number of laboratories. As part of the test design process each laboratory must determine the performance characteristics of the platform, test and informatics pipeline. This report documents one such characterization of WES/WGS.

Methods

Whole exome and whole genome sequencing was performed on multiple technical replicates of five reference samples using the Illumina HiSeq 2000/2500. The sequencing data was processed with a GATK-based genome analysis pipeline to evaluate: intra-run, inter-run, inter-mode, inter-machine and inter-library consistency, concordance with orthogonal technologies (microarray, Sanger) and sensitivity and accuracy relative to known variant

SUBMITTER: Linderman MD 

PROVIDER: S-EPMC4022392 | biostudies-literature | 2014 Apr

REPOSITORIES: biostudies-literature