Publications

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

Standish KA, Carland TM, Lockwood GK, Pfeiffer W, Tatineni M, Huang CC, Lamberth S, Cherkas Y, Brodmerkel C, Jaeger E, Smith L, Rajagopal G, Curran ME, Schork NJ

PMID: 26395405

Abstract

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.