Prioritization of variants to identify causative hearing loss mutations. A series of computational steps (blue background) are required to tackle the many variants that come out of the high-throughput sequencing. High-confidence candidates will be further tested (orange background) in the proband's family and ethnic group using Sanger sequencing or restriction enzyme assays. Confirmed pathogenic mutations will be tested for biological function (gray background). Websites of the tools shown are at: 1000 Genomes Project ; dbSNP ; EVS ; PhyloP ; PolyPhen2 ; SIFT ; ConSurf .
Brownstein et al. Genome Biology 2012 13:245 doi:10.1186/gb-2012-13-5-245