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dc.contributor.authorRapakoulia, Trisevgeni
dc.contributor.authorTheofilatos, Konstantinos A.
dc.contributor.authorKleftogiannis, Dimitrios A.
dc.contributor.authorLikothanasis, Spiridon D.
dc.contributor.authorTsakalidis, Athanasios K.
dc.contributor.authorMavroudi, Seferina P.
dc.date.accessioned2015-08-03T11:53:19Z
dc.date.available2015-08-03T11:53:19Z
dc.date.issued2014-04-26
dc.identifier.issn13674803
dc.identifier.pmid24771561
dc.identifier.doi10.1093/bioinformatics/btu297
dc.identifier.urihttp://hdl.handle.net/10754/563511
dc.description.abstractMotivation: Single nucleotide polymorphisms (SNPs) are considered the most frequently occurring DNA sequence variations. Several computational methods have been proposed for the classification of missense SNPs to neutral and disease associated. However, existing computational approaches fail to select relevant features by choosing them arbitrarily without sufficient documentation. Moreover, they are limited to the problem ofmissing values, imbalance between the learning datasets and most of them do not support their predictions with confidence scores. Results: To overcome these limitations, a novel ensemble computational methodology is proposed. EnsembleGASVR facilitates a twostep algorithm, which in its first step applies a novel evolutionary embedded algorithm to locate close to optimal Support Vector Regression models. In its second step, these models are combined to extract a universal predictor, which is less prone to overfitting issues, systematizes the rebalancing of the learning sets and uses an internal approach for solving the missing values problem without loss of information. Confidence scores support all the predictions and the model becomes tunable by modifying the classification thresholds. An extensive study was performed for collecting the most relevant features for the problem of classifying SNPs, and a superset of 88 features was constructed. Experimental results show that the proposed framework outperforms well-known algorithms in terms of classification performance in the examined datasets. Finally, the proposed algorithmic framework was able to uncover the significant role of certain features such as the solvent accessibility feature, and the top-scored predictions were further validated by linking them with disease phenotypes. © The Author 2014.
dc.description.sponsorshipFunding: Trisevgeni Rapakoulia and Dimitrios Kleftogiannis were supported by the King Abdullah University of Science and Technology (KAUST).
dc.publisherOxford University Press (OUP)
dc.titleEnsembleGASVR: A novel ensemble method for classifying missense single nucleotide polymorphisms
dc.typeArticle
dc.contributor.departmentComputer, Electrical and Mathematical Sciences and Engineering (CEMSE) Division
dc.contributor.departmentComputer Science Program
dc.identifier.journalBioinformatics
dc.contributor.institutionComputer Engineering and Informatics Department, University of Patras, Building B, Patras, 26504, Greece
dc.contributor.institutionDepartment of Social Work, School of Health Sciences, Technological Institute of Western Greece, Patras, Greece
kaust.personKleftogiannis, Dimitrios A.
kaust.personRapakoulia, Trisevgeni
dc.date.published-online2014-04-26
dc.date.published-print2014-08-15


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