title: Genetics: Clinical exome sequencing in neurology practice.
abstract: 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.
authors.affiliation: Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama 236-0004, Japan.
authors.forename: Satoko
authors.initials: S
authors.lastname: Miyatake
authors.affiliation: Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama 236-0004, Japan.
authors.forename: Naomichi
authors.initials: N
authors.lastname: Matsumoto
mesh_terms: D059472:Exome; D005820:Genetic Testing / Q000191:economics / Q000941:ethics / Q000379:methods*; D006801:Humans; D025202:Molecular Diagnostic Techniques / Q000191:economics / Q000941:ethics / Q000379:methods*; D009422:Nervous System Diseases / Q000175:diagnosis / Q000235:genetics; D009462:Neurology / Q000191:economics / Q000941:ethics / Q000379:methods*; D017421:Sequence Analysis / Q000191:economics / Q000941:ethics / Q000379:methods*