A framework for variation discovery and genotyping using next-generation DNA sequencing data. DePristo, MA , Banks E. , Poplin R. , Garimella KV , Maguire JR , Hartl C. , Philippakis AA , del Angel G. , Rivas MA , Hanna M. , McKenna A. , Fennell TJ , Kernytsky AM , Sivachenko AY , Cibulskis K. , Gabriel SB , Altshuler D. , and Daly M. J. Nature genetics, 2011/05/01, Volume 43, Issue 5, p.491-8, (2011)
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Abstract