Achieving high-sensitivity for clinical applications using augmented exome sequencing.

ABSTRACT:

Background

Whole exome sequencing is increasingly used for the clinical evaluation of genetic disease, yet the variation of coverage and sensitivity over medically relevant parts of the genome remains poorly understood. Several sequencing-based assays continue to provide coverage that is inadequate for clinical assessment.

Methods

Using sequence data obtained from the NA12878 reference sample and pre-defined lists of medically-relevant protein-coding and noncoding sequences, we compared the breadth and depth of coverage obtained among four commercial exome capture platforms and whole genome sequencing. In addition, we evaluated the performance of an augmented exome strategy, ACE, that extends coverage in medically relevant regions and enhances coverage in areas that are chal

SUBMITTER: Patwardhan A 

PROVIDER: S-EPMC4534066 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature