Article
Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants.
American journal of human genetics - 2 Oct 2014
Shearer A Eliot, Eppsteiner Robert W, Booth Kevin T, Ephraim Sean S, Gurrola José, Simpson Allen, Black-Ziegelbein E Ann, Joshi Swati, Ravi Harini, Giuffre Angelica C, Happe Scott, Hildebrand Michael S, Azaiez Hela, Bayazit Yildirim A, Erdal Mehmet Emin, Lopez-Escamez Jose A, Gazquez Irene, Tamayo Marta L, Gelvez Nancy Y, Leal Greizy Lopez, Jalas Chaim, Ekstein Josef, Yang Tao, Usami Shin-ichi, Kahrizi Kimia, Bazazzadegan Niloofar, Najmabadi Hossein, Scheetz Todd E, Braun Terry A, Casavant Thomas L, LeProust Emily M, Smith Richard J H
Abstract excerpt
Ethnic-specific differences in minor allele frequency impact variant categorization for genetic screening of nonsyndromic hearing loss (NSHL) and other genetic disorders. We sought to evaluate all previously reported pathogenic NSHL variants in the context of a large number of controls from ethnically distinct populations sequenced with orthogonal massively parallel sequencing methods. We used HGMD, ClinVar, and...
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