Exome sequencing makes medical genomics a reality

Nat Genet. 2010 Jan;42(1):13-4. doi: 10.1038/ng0110-13.


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.

Publication types

  • Comment
  • News

MeSH terms

  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / pathology
  • Exons / genetics*
  • Genetic Predisposition to Disease
  • Genetics, Medical / methods*
  • Genomics / methods*
  • Humans
  • Mandibulofacial Dysostosis / pathology
  • Mutation
  • Open Reading Frames / genetics
  • Oxidoreductases Acting on CH-CH Group Donors / genetics
  • Sequence Analysis, DNA / methods*
  • Syndrome


  • Oxidoreductases Acting on CH-CH Group Donors
  • dihydroorotate dehydrogenase