Date: 04 Nov 2014
Nature Reviews Neurology “News and Views”, published in the December issue (volume 10, issue 12)
Genetics: Clinical exome sequencing in neurology practice
Satoko Miyatake & Naomichi Matsumoto
Published online: 04 November 2014 | doi:10.1038/nrneurol.2014.213
Clinical exome sequencing (CES) is becoming a standard tool for molecular diagnosis of genetic disorders, with a diagnostic yield of approximately 25%. New studies demonstrate the favourable diagnostic yield of CES for both early-onset and adult-onset neurogenetic disorders. These studies demonstrate the strengths, limitations and potential of CES in neurology practice.
Professor, Department of Human Genetics, Graduate School of Medicine,
Yokohama City University