Key result
Using the SNP_TATA_Comparator Web service, 17 novel candidate SNP markers were identified for diseases including rheumatoid arthritis, stroke, cardiovascular events, and cancer.
The SNP_TATA_Comparator bioinformatics tool successfully identified 17 novel candidate SNP markers for various diseases, demonstrating its utility in analyzing unannotated SNPs from the 1000 Genomes project.
Should not yet inform clinical decisions; leaves open SNP_TATA_Comparator utility for prioritizing cardiovascular variants pending validation.
The use of biomedical SNP markers of diseases can improve effectiveness of treatment. Genotyping of patients with subsequent searching for SNPs more frequent than in norm is the only commonly accepted method for identification of SNP markers within the framework of translational research. The bioinformatics applications aimed at millions of unannotated SNPs of the "1000 Genomes" can make this search for SNP markers more focused and less expensive. We used our Web service involving Fisher's Z-score for candidate SNP markers to find a significant change in a gene's expression. Here we analyzed the change caused by SNPs in the gene's promoter via a change in affinity of the TATA-binding protein for this promoter. We provide examples and discuss how to use this bioinformatics application in the course of practical analysis of unannotated SNPs from the "1000 Genomes" project. Using known biomedical SNP markers, we identified 17 novel candidate SNP markers nearby: rs549858786 (rheumatoid arthritis); rs72661131 (cardiovascular events in rheumatoid arthritis); rs562962093 (stroke); rs563558831 (cyclophosphamide bioactivation); rs55878706 (malaria resistance, leukopenia), rs572527200 (asthma, systemic sclerosis, and psoriasis), rs371045754 (hemophilia B), rs587745372 (cardiovascular events); rs372329931, rs200209906, rs367732974, and rs549591993 (all four: cancer); rs17231520 and rs569033466 (both: atherosclerosis); rs63750953, rs281864525, and rs34166473 (all three: malaria resistance, thalassemia).
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Пономаренко et al. (2015) studied Various diseases (e.g., rheumatoid arthritis, stroke, cardiovascular events). SNP_TATA_Comparator Web service was evaluated on Identification of candidate SNP markers. Using the SNP_TATA_Comparator Web service, 17 novel candidate SNP markers were identified for diseases including rheumatoid arthritis, stroke, cardiovascular events, and cancer.
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