Group-based variant calling leveraging next-generation supercomputing for large-scale whole-genome sequencing studies.

ABSTRACT:

Motivation

Next-generation sequencing (NGS) technologies have become much more efficient, allowing whole human genomes to be sequenced faster and cheaper than ever before. However, processing the raw sequence reads associated with NGS technologies requires care and sophistication in order to draw compelling inferences about phenotypic consequences of variation in human genomes. It has been shown that different approaches to variant calling from NGS data can lead to different conclusions. Ensuring appropriate accuracy and quality in variant calling can come at a computational cost.

Results

We describe our experience implementing and evaluating a group-based approach to calling variants on large numbers of whole human genomes. We explore the influence of many factors that may

SUBMITTER: Standish KA 

PROVIDER: S-EPMC4580299 | biostudies-literature | 2015 Sep

REPOSITORIES: biostudies-literature