Detection of Large-Scale Variation in the Human Genome

Nat Genet. 2004 Sep;36(9):949-51. doi: 10.1038/ng1416. Epub 2004 Aug 1.

Abstract

We identified 255 loci across the human genome that contain genomic imbalances among unrelated individuals. Twenty-four variants are present in > 10% of the individuals that we examined. Half of these regions overlap with genes, and many coincide with segmental duplications or gaps in the human genome assembly. This previously unappreciated heterogeneity may underlie certain human phenotypic variation and susceptibility to disease and argues for a more dynamic human genome structure.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Gene Dosage
  • Genes, Duplicate
  • Genetic Variation*
  • Genome, Human*
  • Humans
  • Phenotype