Article
Group-based variant calling leveraging next-generation supercomputing for large-scale whole-genome sequencing studies.
BMC bioinformatics - 22 Sept 2015
Standish Kristopher A, Carland Tristan M, Lockwood Glenn K, Pfeiffer Wayne, Tatineni Mahidhar, Huang C Chris, Lamberth Sarah, Cherkas Yauheniya, Brodmerkel Carrie, Jaeger Ed, Smith Lance, Rajagopal Gunaretnam, Curran Mark E, Schork Nicholas J
Abstract excerpt
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...
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