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2019 | OriginalPaper | Buchkapitel

Disease–Genes Must Guide Data Source Integration in the Gene Prioritization Process

verfasst von : Marco Frasca, Jean Fred Fontaine, Giorgio Valentini, Marco Mesiti, Marco Notaro, Dario Malchiodi, Miguel A. Andrade-Navarro

Erschienen in: Computational Intelligence Methods for Bioinformatics and Biostatistics

Verlag: Springer International Publishing

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Abstract

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.

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Vorheriges Kapitel Adenine: A HPC-Oriented Tool for Biological Data Exploration

Nächstes Kapitel Ensembling Descendant Term Classifiers to Improve Gene - Abnormal Phenotype Predictions

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Titel: Disease–Genes Must Guide Data Source Integration in the Gene Prioritization Process
verfasst von: Marco Frasca
Jean Fred Fontaine
Giorgio Valentini
Marco Mesiti
Marco Notaro
Dario Malchiodi
Miguel A. Andrade-Navarro
Verlag: Springer International Publishing
Buch: Computational Intelligence Methods for Bioinformatics and Biostatistics
Print ISBN: 978-3-030-14159-2

Electronic ISBN: 978-3-030-14160-8

Copyright-Jahr: 2019
DOI: https://doi.org/10.1007/978-3-030-14160-8_7

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