Ontology highlight
ABSTRACT:
SUBMITTER: Sloan-Heggen CM
PROVIDER: S-EPMC4796320 | biostudies-other | 2016 Apr
REPOSITORIES: biostudies-other
Sloan-Heggen Christina M CM Bierer Amanda O AO Shearer A Eliot AE Kolbe Diana L DL Nishimura Carla J CJ Frees Kathy L KL Ephraim Sean S SS Shibata Seiji B SB Booth Kevin T KT Campbell Colleen A CA Ranum Paul T PT Weaver Amy E AE Black-Ziegelbein E Ann EA Wang Donghong D Azaiez Hela H Smith Richard J H RJH
Human genetics 20160311 4
Hearing loss is the most common sensory deficit in humans, affecting 1 in 500 newborns. Due to its genetic heterogeneity, comprehensive diagnostic testing has not previously been completed in a large multiethnic cohort. To determine the aggregate contribution inheritance makes to non-syndromic hearing loss, we performed comprehensive clinical genetic testing with targeted genomic enrichment and massively parallel sequencing on 1119 sequentially accrued patients. No patient was excluded based on ...[more]