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Open AccessCorrespondence

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

Wei Yu email, Renée Ned email, Anja Wulf email, Tiebin Liu email, Muin J Khoury email and Marta Gwinn email

Office of Public Health Genomics, Centers for Disease Control and Prevention, Atlanta, Georgia 30341, USA

author email corresponding author email

BMC Research Notes 2009, 2:56doi:10.1186/1756-0500-2-56

Published: 14 April 2009

Abstract

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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