Ontology highlight
ABSTRACT:
SUBMITTER: DePristo MA
PROVIDER: S-EPMC3083463 | biostudies-literature | 2011 May
REPOSITORIES: biostudies-literature
DePristo Mark A MA Banks Eric E Poplin Ryan R Garimella Kiran V KV Maguire Jared R JR Hartl Christopher C Philippakis Anthony A AA del Angel Guillermo G Rivas Manuel A MA Hanna Matt M McKenna Aaron A Fennell Tim J TJ Kernytsky Andrew M AM Sivachenko Andrey Y AY Cibulskis Kristian K Gabriel Stacey B SB Altshuler David D Daly Mark J MJ
Nature genetics 20110410 5
Recent advances in sequencing technology make it possible to comprehensively catalog genetic variation in population samples, creating a foundation for understanding human disease, ancestry and evolution. The amounts of raw data produced are prodigious, and many computational steps are required to translate this output into high-quality variant calls. We present a unified analytic framework to discover and genotype variation among multiple samples simultaneously that achieves sensitive and speci ...[more]