Ontology highlight
ABSTRACT:
SUBMITTER: Booth KT
PROVIDER: S-EPMC6060001 | biostudies-literature | 2018 Aug
REPOSITORIES: biostudies-literature
Journal of medical genetics 20180427 8
<h4>Background</h4>Hearing loss is a genetically and phenotypically heterogeneous disorder.<h4>Objectives</h4>The purpose of this study was to determine the genetic cause underlying the postlingual progressive hearing loss in two Iranian families.<h4>Methods</h4>We used OtoSCOPE, a next-generation sequencing platform targeting >150 genes causally linked to deafness, to screen two deaf probands. Data analysis was completed using a custom bioinformatics pipeline, and variants were functionally ass ...[more]