Ontology highlight
ABSTRACT:
SUBMITTER: Shearer AE
PROVIDER: S-EPMC3000272 | biostudies-literature | 2010 Dec
REPOSITORIES: biostudies-literature
Shearer A Eliot AE DeLuca Adam P AP Hildebrand Michael S MS Taylor Kyle R KR Gurrola José J Scherer Steve S Scheetz Todd E TE Smith Richard J H RJ
Proceedings of the National Academy of Sciences of the United States of America 20101115 49
The extreme genetic heterogeneity of nonsyndromic hearing loss (NSHL) makes genetic diagnosis expensive and time consuming using available methods. To assess the feasibility of target-enrichment and massively parallel sequencing technologies to interrogate all exons of all genes implicated in NSHL, we tested nine patients diagnosed with hearing loss. Solid-phase (NimbleGen) or solution-based (SureSelect) sequence capture, followed by 454 or Illumina sequencing, respectively, were compared. Seque ...[more]