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