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

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

Abstract

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, http://genenames.org.

PMID:
23634723
PMCID:
PMC3648363
DOI:
10.1186/1479-7364-7-12
[Indexed for MEDLINE]
Free PMC Article

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