title: 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.
authors: Ruth L
authors: RL
authors: Seal
authors: Mathew W
authors: MW
authors: Wright
authors: Kristian A
authors: KA
authors: Gray
authors: Elspeth A
authors: EA
authors: Bruford
mesh_terms: D015894:Genome, Human / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D009154:Mutation / Q000235:genetics*; D012015:Reference Standards; D009626:Terminology as Topic
references: PLoS Genet. 2007 Apr 20;3(4):e63
references: 17447845
references: PLoS Biol. 2011 Jul;9(7):e1001091
references: 21750661
references: Nucleic Acids Res. 2013 Jan;41(Database issue):D545-52
references: 23161694
references: Immunogenetics. 2008 Jan;60(1):1-18
references: 18193213
references: Tissue Antigens. 2003 Jul;62(1):79-86
references: 12859599
references: Hum Immunol. 2005 Nov;66(11):1183-6
references: 16571419