Genomic rearrangements and sporadic disease

Nat Genet. 2007 Jul;39(7 Suppl):S43-7. doi: 10.1038/ng2084.


Many clinical phenotypes occur sporadically despite genetics contributing partly or entirely to their cause. To what extent are de novo mutations the cause of sporadic traits? Locus-specific mutation rates for genomic rearrangements appear to be two to four orders of magnitude greater than nucleotide-specific rates for base substitutions. Widespread implementation of high-resolution genome analyses to detect de novo copy-number variation may identify the cause of traits previously intractable to conventional genetic analyses.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Chromosome Breakage
  • Gene Dosage
  • Gene Rearrangement*
  • Genetic Diseases, Inborn / genetics*
  • Genetic Variation
  • Genomics
  • Humans
  • Mutation
  • Phenotype