Vive la différence: naming structural variants in the human reference genome

Hum Genomics. 2013 May 1;7(1):12. doi: 10.1186/1479-7364-7-12.


The HUGO Gene Nomenclature Committee has approved gene symbols for the majority of protein-coding genes on the human reference genome. To adequately represent regions of complex structural variation, the Genome Reference Consortium now includes alternative representations of some of these regions as part of the reference genome. Here, we describe examples of how we name novel genes in these regions and how this nomenclature is displayed on our website,

Publication types

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

MeSH terms

  • Genome, Human / genetics*
  • Haplotypes
  • Humans
  • Mutation / genetics*
  • Reference Standards
  • Terminology as Topic*