Kafeen and the DVD Are Configurable, Customizable, and Open-Access Resources
The DVD is freely available. It is widely used by the scientific and clinical communities worldwide with ∼3,000 users and 13,000 sessions over the past 12 months (Figure S6). The Kafeen bioinformatic pipeline, upon which the DVD was built, is configurable, adaptable, and extensible, allowing incorporation of additional variant and annotation sources as well as deleteriousness prediction tools. It also allows for customizable thresholds of MAF to classify variants. Consequently, its use is not limited to deafness and could be implemented for a variety of other genetic disorders.