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Resolution: standard / high Figure 2.
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 |