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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Detalles Bibliográficos
Autores principales: Seal, Ruth L, Wright, Mathew W, Gray, Kristian A, Bruford, Elspeth A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Letter to the Editor
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3648363/
https://www.ncbi.nlm.nih.gov/pubmed/23634723
http://dx.doi.org/10.1186/1479-7364-7-12
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author Seal, Ruth L
Wright, Mathew W
Gray, Kristian A
Bruford, Elspeth A
author_facet Seal, Ruth L
Wright, Mathew W
Gray, Kristian A
Bruford, Elspeth A
author_sort Seal, Ruth L
collection PubMed
description 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.
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spelling pubmed-36483632013-05-10 Vive la différence: naming structural variants in the human reference genome Seal, Ruth L Wright, Mathew W Gray, Kristian A Bruford, Elspeth A Hum Genomics Letter to the Editor 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. BioMed Central 2013-05-01 /pmc/articles/PMC3648363/ /pubmed/23634723 http://dx.doi.org/10.1186/1479-7364-7-12 Text en Copyright © 2013 Seal et al.; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Letter to the Editor
Seal, Ruth L
Wright, Mathew W
Gray, Kristian A
Bruford, Elspeth A
Vive la différence: naming structural variants in the human reference genome
title Vive la différence: naming structural variants in the human reference genome
title_full Vive la différence: naming structural variants in the human reference genome
title_fullStr Vive la différence: naming structural variants in the human reference genome
title_full_unstemmed Vive la différence: naming structural variants in the human reference genome
title_short Vive la différence: naming structural variants in the human reference genome
title_sort vive la différence: naming structural variants in the human reference genome
topic Letter to the Editor
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3648363/
https://www.ncbi.nlm.nih.gov/pubmed/23634723
http://dx.doi.org/10.1186/1479-7364-7-12
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