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January 2016

Exome Variant Mining in Familial Parkinson Disease: Will Replication Find the Gold?

Author Affiliations
  • 1Department of Neurology, Oslo University Hospital, Oslo, Norway
  • 2Department of Neuroscience, Mayo Clinic, Jacksonville, Florida
JAMA Neurol. 2016;73(1):21-22. doi:10.1001/jamaneurol.2015.3536

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.

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