A web-based tool for prediction of disease associated SNPs. The method is based on support vector machine (SVM) analyses of proteins.
Molecular genetics, Genetic variation, DNA polymorphism
Capriotti E, Calabrese R, Fariselli P, Martelli PL, Altman RB, Casadio R "WS-SNPs&GO: a web server for predicting the deleterious effect of human protein variants using functional annotation." BMC Genomics 2013 https://doi.org/10.1186/1471-2164-14-S3-S6
Calabrese R, Capriotti E, Fariselli P, Martelli PL, Casadio R. "Functional annotations improve the predictive score of human disease-related mutations in proteins." Hum Mutat. 2009 Aug;30(8):1237-44. doi: 10.1002/humu.21047. https://doi.org/10.1002/humu.21047
Capriotti E, Altman RB "Improving the prediction of disease-related variants using protein three-dimensional structure." BMC Bioinformatics 2011 https://doi.org/10.1186/1471-2105-12-S4-S3
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