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Open Access Letter to the Editor

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

Ruth L Seal*, Mathew W Wright, Kristian A Gray and Elspeth A Bruford

Author Affiliations

HUGO Gene Nomenclature Committee (HGNC), European Bioinformatics Institute (EMBL-EBI), Wellcome Trust Genome Campus, Hinxton, Cambridgeshire CB10 1SD, UK

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Human Genomics 2013, 7:12  doi:10.1186/1479-7364-7-12

Published: 1 May 2013

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 webcite.

Keywords:
Gene nomenclature; Reference genome; Structural variants; Human