The need for genetic variant naming standards in published abstracts of human genetic association studies

We analyzed the use of RefSNP (rs) numbers to identify genetic variants in abstracts of human genetic association studies published from 2001 through 2007. The proportion of abstracts reporting rs numbers increased rapidly but was still only 15% in 2007. We developed a web-based tool called Variant...

Descripción completa

Detalles Bibliográficos
Autores principales: Yu, Wei, Ned, Renée, Wulf, Anja, Liu, Tiebin, Khoury, Muin J, Gwinn, Marta
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2009
Materias:
Correspondence
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2672936/
https://www.ncbi.nlm.nih.gov/pubmed/19366450
http://dx.doi.org/10.1186/1756-0500-2-56
_version_ 1782166558276059136
author Yu, Wei
Ned, Renée
Wulf, Anja
Liu, Tiebin
Khoury, Muin J
Gwinn, Marta
author_facet Yu, Wei
Ned, Renée
Wulf, Anja
Liu, Tiebin
Khoury, Muin J
Gwinn, Marta
author_sort Yu, Wei
collection PubMed
description We analyzed the use of RefSNP (rs) numbers to identify genetic variants in abstracts of human genetic association studies published from 2001 through 2007. The proportion of abstracts reporting rs numbers increased rapidly but was still only 15% in 2007. We developed a web-based tool called Variant Name Mapper to assist in mapping historical genetic variant names to rs numbers. The consistent use of rs numbers in abstracts that report genetic associations would enhance knowledge synthesis and translation in this field.
format Text
id pubmed-2672936
institution National Center for Biotechnology Information
language English
publishDate 2009
publisher BioMed Central
record_format MEDLINE/PubMed
spelling pubmed-26729362009-04-24 The need for genetic variant naming standards in published abstracts of human genetic association studies Yu, Wei Ned, Renée Wulf, Anja Liu, Tiebin Khoury, Muin J Gwinn, Marta BMC Res Notes Correspondence We analyzed the use of RefSNP (rs) numbers to identify genetic variants in abstracts of human genetic association studies published from 2001 through 2007. The proportion of abstracts reporting rs numbers increased rapidly but was still only 15% in 2007. We developed a web-based tool called Variant Name Mapper to assist in mapping historical genetic variant names to rs numbers. The consistent use of rs numbers in abstracts that report genetic associations would enhance knowledge synthesis and translation in this field. BioMed Central 2009-04-14 /pmc/articles/PMC2672936/ /pubmed/19366450 http://dx.doi.org/10.1186/1756-0500-2-56 Text en Copyright © 2009 Yu 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 Correspondence
Yu, Wei
Ned, Renée
Wulf, Anja
Liu, Tiebin
Khoury, Muin J
Gwinn, Marta
The need for genetic variant naming standards in published abstracts of human genetic association studies
title The need for genetic variant naming standards in published abstracts of human genetic association studies
title_full The need for genetic variant naming standards in published abstracts of human genetic association studies
title_fullStr The need for genetic variant naming standards in published abstracts of human genetic association studies
title_full_unstemmed The need for genetic variant naming standards in published abstracts of human genetic association studies
title_short The need for genetic variant naming standards in published abstracts of human genetic association studies
title_sort need for genetic variant naming standards in published abstracts of human genetic association studies
topic Correspondence
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2672936/
https://www.ncbi.nlm.nih.gov/pubmed/19366450
http://dx.doi.org/10.1186/1756-0500-2-56
work_keys_str_mv AT yuwei theneedforgeneticvariantnamingstandardsinpublishedabstractsofhumangeneticassociationstudies
AT nedrenee theneedforgeneticvariantnamingstandardsinpublishedabstractsofhumangeneticassociationstudies
AT wulfanja theneedforgeneticvariantnamingstandardsinpublishedabstractsofhumangeneticassociationstudies
AT liutiebin theneedforgeneticvariantnamingstandardsinpublishedabstractsofhumangeneticassociationstudies
AT khourymuinj theneedforgeneticvariantnamingstandardsinpublishedabstractsofhumangeneticassociationstudies
AT gwinnmarta theneedforgeneticvariantnamingstandardsinpublishedabstractsofhumangeneticassociationstudies
AT yuwei needforgeneticvariantnamingstandardsinpublishedabstractsofhumangeneticassociationstudies
AT nedrenee needforgeneticvariantnamingstandardsinpublishedabstractsofhumangeneticassociationstudies
AT wulfanja needforgeneticvariantnamingstandardsinpublishedabstractsofhumangeneticassociationstudies
AT liutiebin needforgeneticvariantnamingstandardsinpublishedabstractsofhumangeneticassociationstudies
AT khourymuinj needforgeneticvariantnamingstandardsinpublishedabstractsofhumangeneticassociationstudies
AT gwinnmarta needforgeneticvariantnamingstandardsinpublishedabstractsofhumangeneticassociationstudies

Ejemplares similares