DEAFNESS VARIATION DATABASE

Citation

When including DVD data in publication, please use the following citation:

Deafness Variation Database (http://deafnessvariationdatabase.org/) (Accessed: {Month} {Day}, {Year}).
Please add the reference: Hela Azaiez, Kevin T Booth, Sean S Ephraim, Bradley Crone, Elizabeth A Black-Ziegelbein, Robert J Marini, A Eliot Shearer, Christina M Sloan-Heggen, Diana Kolbe, Thomas Casavant, Michael J Schnieders, Carla Nishimura, Terry Braun, Richard JH Smith "Genomic Landscape and Mutational Signatures of Deafness-Associated Genes" American Journal of Human Genetics. September 20, 2018, DOI:https://doi.org/10.1016/j.ajhg.2018.08.006

References

Population analysis

We collated all previously reported deafness-causing variants as described in the following publication:

Shearer AE, et al. Utilizing ethnic-specific differences in minor allele frequency
  to re-categorize reported pathogenic deafness variants. Am J Hum Genet
  2014.

Software

The DVD was built using the freely available Cordova variation database management software which is described in the following publication:

Ephraim SS, et al. Cordova: Web-based management of genetic variation data.
  Bioinformatics 2014.

Data sources

Please take a look at the data sources we use for DVD annotation.

Other

Jesaitis, A. Variant Notation: In simplicity we find complexity. Our 2 SNPs... ®
  (2014).