Article

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

Genome Medicine (Impact Factor: 4.94). 01/2014; 6(5):37. DOI: 10.1186/gm554
Source: PubMed

ABSTRACT 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 this reason, the contribution of CNVs to non-syndromic hearing loss (NSHL) is most likely under-recognized. We aimed to incorporate a method for CNV identification as part of our standard analysis pipeline and to determine the contribution of CNVs to genetic hearing loss.

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