Article
Exonic Variation and Its Clinical Impact in 7221 Old Order Amish.
American journal of medical genetics. Part A - 1 Dec 2025
Mitchell Braxton D, Onyenobi Ebuka, Lewis Joshua P, Gaynor Brady, Perry James A, Maloney Kristin, O'Connell Jeffrey R, Tiner Jessica, Beitelshees Amber L, Van Hout Cristopher V, McArdle Patrick F, Xu Huichun, Puffenberger Erik G, Brigatti Karlla W, Daue Melanie, Whitlatch Hilary B, Alkelai Anna, Schäffer Alejandro A, Overton John, Streeten Elizabeth A, Pollin Toni I, Shuldiner Alan R
Abstract excerpt
The Amish of Lancaster County, PA has been the focus of genetic studies for many years due to its demographic history and unique genetic makeup that includes a historical bottleneck event and subsequent genetic drift, resulting in a marked decrease in genetic diversity and increased frequency of some variants that have substantially shaped the health of the community. To characterize the coding variation in the...
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