Article
Advancing genetic testing for deafness with genomic technology.
Journal of medical genetics - 1 Sept 2013
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
Abstract excerpt
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 all exons of all genes implicated in NSHL, we tested 100 persons with presumed genetic NSHL and in so doing...
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