Advancing Genetic Testing for Deafness with Genomic Technology

BACKGROUND: Non-syndromic hearing loss (NSHL) is the most common sensory impairment in humans. Until recently its extreme genetic heterogeneity precluded comprehensive genetic testing. Using a platform that couples targeted genomic enrichment (TGE) and massively parallel sequencing (MPS) to sequence...

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Autors principals: Shearer, A. Eliot, Black-Ziegelbein, E. Ann, Hildebrand, Michael S., Eppsteiner, Robert W., Ravi, Harini, Joshi, Swati, Guiffre, Angelica C., Sloan, Christina M., Happe, Scott, Howard, Susanna D., Novak, Barbara, DeLuca, Adam P., Taylor, Kyle R., Scheetz, Todd E., Braun, Terry A., Casavant, Thomas L., Kimberling, William J., LeProust, Emily M., Smith, Richard J.H.
Format: Artigo
Idioma:Inglês
Publicat: 2013
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3887546/
https://ncbi.nlm.nih.gov/pubmed/23804846
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2013-101749
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