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- Title
Advancing genetic testing for deafness with genomic technology.
- Authors
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
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 established sequencing requirements for maximum sensitivity and defined MPS quality score metrics that obviate Sanger validation of variants.
- Publication
Journal of medical genetics, 2013, Vol 50, Issue 9, p627
- ISSN
1468-6244
- Publication type
Journal Article
- DOI
10.1136/jmedgenet-2013-101749