We are entering an exciting time, with the concept of precision or individualized medicine directing clinical diagnostics, selection criteria for targeted clinical trials, and patient-tailored therapeutic intervention strategies. Indeed, technological advances have elevated genetic studies and opened an opportunity to gain insight into the genome that could not have been envisioned a decade ago. As we await the arrival of the affordable whole-genome sequence, current costs can run just over the goal of $1000 per genome, investigators have used the capture-sequence approach of exome sequencing in the mission of identifying actionable coding variants and thus the genes involved in disease pathogenesis.
Toft M, Ross OA. Exome Variant Mining in Familial Parkinson DiseaseWill Replication Find the Gold?. JAMA Neurol. 2016;73(1):21-22. doi:10.1001/jamaneurol.2015.3536