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...

Descripció completa

Guardat en:
Dades bibliogràfiques
Autors principals: 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
Idioma:Inglês
Publicat: Elsevier 2014
Matèries:
Report
Accés en línia: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
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars