Medical implications of technical accuracy in genome sequencing.

ABSTRACT:

Background

As whole exome sequencing (WES) and whole genome sequencing (WGS) transition from research tools to clinical diagnostic tests, it is increasingly critical for sequencing methods and analysis pipelines to be technically accurate. The Genome in a Bottle Consortium has recently published a set of benchmark SNV, indel, and homozygous reference genotypes for the pilot whole genome NIST Reference Material based on the NA12878 genome.

Methods

We examine the relationship between human genome complexity and genes/variants reported to be associated with human disease. Specifically, we map regions of medical relevance to benchmark regions of high or low confidence. We use benchmark data to assess the sensitivity and positive predictive value of two representative sequencing

SUBMITTER: Goldfeder RL 

PROVIDER: S-EPMC4774017 | biostudies-literature | 2016 Mar

REPOSITORIES: biostudies-literature