Article
Common sequence variants affect molecular function more than rare variants?
Scientific reports - 9 May 2017
Mahlich Yannick, Reeb Jonas, Hecht Maximilian, Schelling Maria, De Beer Tjaart Andries Petrus, Bromberg Yana, Rost Burkhard
Abstract excerpt
Any two unrelated individuals differ by about 10,000 single amino acid variants (SAVs). Do these impact molecular function? Experimental answers cannot answer comprehensively, while state-of-the-art prediction methods can. We predicted the functional impacts of SAVs within human and for variants between human and other species. Several surprising results stood out. Firstly, four methods (CADD, PolyPhen-2, SIFT,...
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