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...

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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
Descripción
Sumario: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.

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