A general framework for estimating the relative pathogenicity of human genetic variants

Nature Genetics - Tập 46 Số 3 - Trang 310-315 - 2014
Martin Kircher1, Daniela Witten2, Preti Jain3, Brian J. O’Roak1, Gregory M. Cooper3, Jay Shendure1
1Department of Genome Sciences, University of Washington, Seattle, Washington, USA
2Department of Biostatistics, University of Washington, Seattle, Washington, USA.
3HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, USA

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