ANNOUNCEMENT: DVD v3 is now available!
The Molecular Otolaryngology & Renal Research Lab (MORL) Deafness Variation Database (DVD) provides a comprehensive guide to genetic variation in genes known to be associated with deafness. It includes all known genetic variants present in any gene that is included on OtoSCOPE®, the MORL’s comprehensive genetic deafness screening platform. This facilitates variant analysis.
The data in the MORL DVD are based on publicly available data and data from OtoSCOPE®. It also incorporates phenotypic information from the AudioGene machine-learning based audiometric profiling tool.
The goal of the DVD is to collate and annotate every variant in every deafness gene. The sources of all DVD v3 variants can be found here.
DVD categorization is based on the following criteria:
- Previously reported pathogenic variants with MAF < 0.005
- Predicted pathogenic
- All variants with a MAF < 0.005 and with high pathogenicity score
- All variants with a MAF assigned that is > 0.005
- Variant of unknown significance (VUS)
- All variants with no MAF assigned regardless of pathogenicity score
This categorization is specific for non-syndromic hearing loss only and may not be applicable to other diseases or conditions. All categorizations noted with an asterisk (*) reflect changes made by the curators of DVD based on MAF as described in the following publication:
Shearer AE, Eppsteiner RW, Booth KT, Ephraim SS, et al. Utilizing ethnic-specific differences in minor allele frequency to re-categorize reported pathogenic deafness variants. Am J Hum Genet 2014.
The DVD was built using the freely available Cordova variation database management software which is described in the following publication:
Ephraim SS, Anand N, et al. Cordova: Web-based management of genetic variation data. Bioinformatics 2014.
These data are freely available. When including information from the DVD in publication, please cite this URL and the date accessed. All content is copyrighted by the MORL at The University of Iowa.
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