Ontology highlight
ABSTRACT:
SUBMITTER: Park G
PROVIDER: S-EPMC3608096 | biostudies-literature | 2013
REPOSITORIES: biostudies-literature
Park Gibeom G Gim Jungsoo J Kim Ah Reum AR Han Kyu-Hee KH Kim Hyo-Sang HS Oh Seung-Ha SH Park Taesung T Park Woong-Yang WY Choi Byung Yoon BY
BMC genomics 20130318
<h4>Background</h4>The genetic heterogeneity of sensorineural hearing loss is a major hurdle to the efficient discovery of disease-causing genes. We designed a multiphasic analysis of copy number variation (CNV), linkage, and single nucleotide variation (SNV) of whole exome sequencing (WES) data for the efficient discovery of mutations causing nonsyndromic hearing loss (NSHL).<h4>Results</h4>From WES data, we identified five distinct CNV loci from a NSHL family, but they were not co-segregated a ...[more]