One of the main issues in detecting the genes involved in the etiology of genetic human diseases is the integration of different types of available functional relationships between genes. Numerous approaches exploited the complementary evidence coded in heterogeneous sources of data to prioritize disease-genes, such as functional profiles or expression quantitative trait loci, but none of them to our knowledge posed the scarcity of known disease-genes as a feature of their integration methodology. Nevertheless, in contexts where data are unbalanced, that is, where one class is largely under-represented, imbalance-unaware approaches may suffer a strong decrease in performance. We claim that imbalance-aware integration is a key requirement for boosting performance of gene prioritization (GP) methods. To support our claim, we propose an imbalance-aware integration algorithm for the GP problem, and we compare it on benchmark data with other state-of-the-art integration methodologies.
Disease–Genes Must Guide Data Source Integration in the Gene Prioritization Process / M. Frasca, J.F. Fontaine, G. Valentini, M. Mesiti, M. Notaro, D. Malchiodi, M.A. Andrade-Navarro (LECTURE NOTES IN COMPUTER SCIENCE). - In: Computational Intelligence Methods for Bioinformatics and Biostatistics / [a cura di] M. Bartoletti, A. Barla, A. Bracciali, G. W. Klau, L. Peterson, A. Policriti, R. Tagliaferri. - Prima edizione. - Cham : Springer, 2019. - ISBN 9783030125974. - pp. 60-69 (( Intervento presentato al 14. convegno CIBB tenutosi a Cagliari nel 2017.
Titolo: | Disease–Genes Must Guide Data Source Integration in the Gene Prioritization Process |
Autori: | |
Parole Chiave: | Medical Subject Headings; Gene prioritization; Imbalance-aware integration; Network integration |
Settore Scientifico Disciplinare: | Settore INF/01 - Informatica |
Data di pubblicazione: | 2019 |
Digital Object Identifier (DOI): | http://dx.doi.org/10.1007/978-3-030-14160-8_7 |
Tipologia: | Book Part (author) |
Appare nelle tipologie: | 03 - Contributo in volume |
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LNBI_cibb17_camera_ready.pdf | Pre-print (manoscritto inviato all'editore) | Administrator Richiedi una copia | ||
Frasca2019_Chapter_DiseaseGenesMustGuideDataSourc.pdf | Publisher's version/PDF | Administrator Richiedi una copia |