The SNPcurator: Literature mining of enriched SNP-disease associations

Abstract

The uniqueness of each human genetic structure motivated the shift from the current practice of medicine to a more tailored one. This personalized medicine revolution would not be possible today without the genetics data collected from genome-wide association studies (GWASs) that investigate the relation between different phenotypic traits and single-nucleotide polymorphisms (SNPs). The huge increase in the literature publication space imposes a challenge on the conventional manual curation process which is becoming more and more expensive. This research aims at automatically extracting SNP associations of any given disease and its reported statistical significance (P-value) and odd ratio as well as cohort information such as size and ethnicity. Our evaluation illustrates that SNPcurator was able to replicate a large number of SNP-disease associations that were also reported in the NHGRI-EBI Catalog of published GWASs. SNPcurator was also tested by eight external genetics experts, who queried the system to examine diseases of their choice, and was found to be efficient and satisfactory. We conclude that the text-mining-based system has a great potential for helping researchers and scientists, especially in their preliminary genetics research. SNPcurator is publicly available at http://snpcurator.science.uu.nl/.