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Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing

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,...

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Main Authors: Shearer, A. Eliot, DeLuca, Adam P., Hildebrand, Michael S., Taylor, Kyle R., Gurrola, José, Scherer, Steve, Scheetz, Todd E., Smith, Richard J. H.
格式: Artigo
語言:Inglês
出版: National Academy of Sciences 2010
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC3000272/
https://ncbi.nlm.nih.gov/pubmed/21078986
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1012989107
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