Pipeline for identification of pathogenic variants by targeted capture and high-throughput sequencing of deaf individuals. The major steps required to identify mutations responsible for deafness are outlined. The first step begins with institutional review board or Helsinki Committee authorization to perform research on human subjects, followed by extraction of genomic DNA from blood. A series of experimental and computational steps follow, with variations according to the type of sequencing platform used.
Brownstein et al. Genome Biology 2012 13:245 doi:10.1186/gb-2012-13-5-245