Views 524
Citations 0
January 2016

Exome Variant Mining in Familial Parkinson DiseaseWill Replication Find the Gold?

Author Affiliations
  • 1Department of Neurology, Oslo University Hospital, Oslo, Norway
  • 2Department of Neuroscience, Mayo Clinic, Jacksonville, Florida

Copyright 2016 American Medical Association. All Rights Reserved. Applicable FARS/DFARS Restrictions Apply to Government Use.

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.

First Page Preview View Large
First page PDF preview
First page PDF preview