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

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...

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Bibliographic Details
Published inHuman genomics Vol. 7; no. 1; p. 12
Main Authors Seal, Ruth L, Wright, Mathew W, Gray, Kristian A, Bruford, Elspeth A
Format Journal Article
LanguageEnglish
Published England BioMed Central 01.05.2013
Subjects
Annotations
Blood groups
Chromosomes
Consortia
Genes
Genome, Human - genetics
Genomes
Haplotypes
Humans
Letter to the Editor
Mutation - genetics
Names
Reference Standards
Terminology as Topic
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Summary: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.
Bibliography:SourceType-Other Sources-1
ObjectType-Article-1
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ObjectType-Correspondence-2
ISSN:1479-7364
1473-9542
1479-7364
DOI:10.1186/1479-7364-7-12