The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands.


Hearing impairment (HI) is genetically heterogeneous which hampers genetic counseling and molecular diagnosis. Testing of several single HI-related genes is laborious and expensive. In this study, we evaluate the diagnostic utility of whole-exome sequencing (WES) targeting a panel of HI-related genes. Two hundred index patients, mostly of Dutch origin, with… (More)
DOI: 10.1038/ejhg.2016.182


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