Utilizing Ethnic-Specific Differences in Minor Allele Frequency to Recategorize Reported Pathogenic Deafness Variants

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 ethnical...

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Main Authors: 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.
Format: Artigo
Language:Inglês
Published: Elsevier 2014
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4185121/
https://ncbi.nlm.nih.gov/pubmed/25262649
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2014.09.001
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