Genomic Landscape and Mutational Signatures of Deafness-Associated Genes.

ABSTRACT: The classification of genetic variants represents a major challenge in the post-genome era by virtue of their extraordinary number and the complexities associated with ascribing a clinical impact, especially for disorders exhibiting exceptional phenotypic, genetic, and allelic heterogeneity. To address this challenge for hearing loss, we have developed the Deafness Variation Database (DVD), a comprehensive, open-access resource that integrates all available genetic, genomic, and clinical data together with expert curation to generate a single classification for each variant in 152 genes implicated in syndromic and non-syndromic deafness. We evaluate 876,139 variants and classify them as pathogenic or likely pathogenic (more than 8,100 variants), benign or likely benign (more than 172,000 v

SUBMITTER: Azaiez H 

PROVIDER: S-EPMC6174355 | biostudies-literature | 2018 Oct

REPOSITORIES: biostudies-literature