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

PubMed ID: 24487276

Citation: Kircher M, Witten DM, Jain P, O'Roak BJ, Cooper GM, Shendure J. A general framework for estimating the relative pathogenicity of human genetic variants. Nat Genet. 2014;46(3):310-315. doi:10.1038/ng.2892

Funding: Funded by National Institutes of Health (N.I.H.) grants U54HG006493 (to J.S. and G.C), DP5OD009145 (to D.W.) and DP1HG007811 (to J.S.).