Whole-exome sequencing for finding de novo mutations in sporadic mental retardation

Genome Biol. 2010;11(12):144. doi: 10.1186/gb-2010-11-12-144. Epub 2010 Dec 21.


Recent work has used a family-based approach and whole-exome sequencing to identify de novo mutations in sporadic cases of mental retardation.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • DNA Mutational Analysis / methods*
  • Databases, Genetic
  • Exons
  • Genetic Diseases, Inborn / diagnosis
  • Humans
  • Intellectual Disability / genetics*
  • Mutation*