Comprehensive genetic testing with ethnic-specific filtering by allele frequency in a Japanese hearing-loss population

Recent advances in targeted genomic enrichment with massively parallel sequencing (TGE+MPS) have made comprehensive genetic testing for non-syndromic hearing loss (NSHL) possible. After excluding NSHL subjects with causative mutations in GJB2 and the MT-RNR1 (1555A>G) variant by Sanger sequencing...

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Detalhes bibliográficos
Publicado no:Clin Genet
Main Authors: Moteki, Hideaki, Azaiez, Hela, Booth, Kevin T, Shearer, A Eliot, Sloan, Christina M, Kolbe, Diana L, Nishio, Shin-ya, Hattori, Mitsuru, Usami, Shin-ichi, Smith, Richard J H
Formato: Artigo
Idioma:Inglês
Publicado em: 2015
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4783301/
https://ncbi.nlm.nih.gov/pubmed/26346818
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/cge.12677
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