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.
Highlights
By identifying millions of single nucleotide polymorphisms (SNPs), high-throughput genotyping technology has dramatically boosted the yield of genetic association studies [1]
Translating these data into useful health information depends on systematic review and knowledge synthesis [2]
The efficiency and sensitivity of scientific literature searches, as well as the robustness of computerized processes for data and text mining, depend closely on the way that information is presented in PubMed abstracts
Summary
By identifying millions of single nucleotide polymorphisms (SNPs), high-throughput genotyping technology has dramatically boosted the yield of genetic association studies [1]. The inconsistent description of key data elements – such as gene names, gene variant names, and measures of association – makes retrieval of published information challenging. Names for genes and polymorphisms are problematic because historical or common names have often been used instead of standard nomenclature [3,4], in candidate gene association studies.
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