Journal article

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

A Eliot Shearer, Robert W Eppsteiner, Kevin T Booth, Sean S Ephraim, Jose Gurrola, Allen Simpson, E Ann Black-Ziegelbein, Swati Joshi, Harini Ravi, Angelica C Giuffre, Scott Happe, Michael S Hildebrand, Hela Azaiez, Yildirim A Bayazit, Mehmet Emin Erdal, Jose A Lopez-Escamez, Irene Gazquez, Marta L Tamayo, Nancy Y Gelvez, Greizy Lopez Leal Show all

The American Journal of Human Genetics | CELL PRESS | Published : 2014

University of Melbourne Researchers

Grants

Awarded by NIDCD


Awarded by Pontificia Universidad Javeriana (Bogota, Colombia)


Awarded by NATIONAL INSTITUTE OF GENERAL MEDICAL SCIENCES


Awarded by NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERS


Funding Acknowledgements

This work was supported by NIDCD 1F30DC011674 to A.E.S. and NIDCD RO1s DC003544, DC002842, and DC012049 to R.J.H.S. Colombian individuals and samples were obtained as part of the project "Frecuencias de variantes codificantes especificas de genes entre diferentes poblaciones," supported by Pontificia Universidad Javeriana, Grant ID4775 (Bogota, Colombia).