Article
A framework for variation discovery and genotyping using next-generation DNA sequencing data.
Nature genetics - 1 May 2011
DePristo Mark A, Banks Eric, Poplin Ryan, Garimella Kiran V, Maguire Jared R, Hartl Christopher, Philippakis Anthony A, del Angel Guillermo, Rivas Manuel A, Hanna Matt, McKenna Aaron, Fennell Tim J, Kernytsky Andrew M, Sivachenko Andrey Y, Cibulskis Kristian, Gabriel Stacey B, Altshuler David, Daly Mark J
Abstract excerpt
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...
Topics
Join the communities discussing this publication.