Copy number variants are a common cause of non-syndromic hearing loss

BACKGROUND: Copy number variants (CNVs) are a well-recognized cause of genetic disease; however, methods for their identification are often gene-specific, excluded as ‘routine’ in screens of genetically heterogeneous disorders, and not implemented in most next-generation sequencing pipelines. For th...

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Detalles Bibliográficos
Autores principales: Shearer, A Eliot, Kolbe, Diana L, Azaiez, Hela, Sloan, Christina M, Frees, Kathy L, Weaver, Amy E, Clark, Erika T, Nishimura, Carla J, Black-Ziegelbein, E Ann, Smith, Richard J H
Formato: Artigo
Lenguaje:Inglês
Publicado: BioMed Central 2014
Materias:
Research
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4067994/
https://ncbi.nlm.nih.gov/pubmed/24963352
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/gm554
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