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...

Полное описание

Сохранить в:
Библиографические подробности
Главные авторы: 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.
Формат: Artigo
Язык:Inglês
Опубликовано: Elsevier 2014
Предметы:
Report
Online-ссылка: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
Метки: Добавить метку
Нет меток, Требуется 1-ая метка записи!

Схожие документы