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Whiffin N, Roberts AM, Minikel E, Zappala Z, Walsh R, O’Donnell-Luria AH, Karczewski KJ, Harrison SM, Thomson KL, Sage H, Ing AY, Barton PJR, Funke B, Cook SA, MacArthur DG, Ware JS. Using High-Resolution Variant Frequencies Empowers Clinical Genome Interpretation and Enables Investigation of Genetic Architecture. The American Journal of Human Genetics. 2019 Jan;104(1):187–90. doi: 10.1016/j.ajhg.2018.11.012. |