Exome sequencing and genome-wide copy number variant mapping reveal novel associations with sensorineural hereditary hearing loss

BACKGROUND: The genetic diversity of loci and mutations underlying hereditary hearing loss is an active area of investigation. To identify loci associated with predominantly non-syndromic sensorineural hearing loss, we performed exome sequencing of families and of single probands, as well as copy nu...

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Bibliografiska uppgifter
I publikationen:BMC Genomics
Huvudupphovsmän: Haraksingh, Rajini R, Jahanbani, Fereshteh, Rodriguez-Paris, Juan, Gelernter, Joel, Nadeau, Kari C, Oghalai, John S, Schrijver, Iris, Snyder, Michael P
Materialtyp: Artigo
Språk:Inglês
Publicerad: BioMed Central 2014
Ämnen:
Research Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC4367882/
https://ncbi.nlm.nih.gov/pubmed/25528277
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2164-15-1155
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