title: Exome sequencing makes medical genomics a reality.
abstract: Massively parallel sequencing of the exomes of four individuals with Miller syndrome, combined with filtering to exclude benign and unrelated variants, has identified causative mutations in DHODH. This approach will accelerate discovery of the genetic bases of hundreds of other rare mendelian disorders.
authors.forename: Leslie G
authors.initials: LG
authors.lastname: Biesecker
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology; D000090722:Dihydroorotate Dehydrogenase; D005091:Exons / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D005826:Genetics, Medical / Q000379:methods*; D023281:Genomics / Q000379:methods*; D006801:Humans; D008342:Mandibulofacial Dysostosis / Q000473:pathology; D009154:Mutation; D016366:Open Reading Frames / Q000235:genetics; D044925:Oxidoreductases Acting on CH-CH Group Donors / Q000235:genetics; D017422:Sequence Analysis, DNA / Q000379:methods*; D013577:Syndrome
chemical_list: D000090722:Dihydroorotate Dehydrogenase; D044925:Oxidoreductases Acting on CH-CH Group Donors