Common sequence variants affect molecular function more than rare variants?
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ABSTRACT:
SUBMITTER: Mahlich Y
PROVIDER: S-EPMC5431670 | biostudies-literature | 2017 May
REPOSITORIES: biostudies-literature
Publications
Common sequence variants affect molecular function more than rare variants?
Mahlich Yannick Y Reeb Jonas J Hecht Maximilian M Schelling Maria M De Beer Tjaart Andries Petrus TAP Bromberg Yana Y Rost Burkhard B
Scientific reports 20170509 1
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, and SNAP2) agreed within 10 percentage points on the percentage of rare SAVs predicte ...[more]
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