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Springer Verlag, Lecture Notes in Computer Science, p. 739-751

DOI: 10.1007/978-3-319-31744-1_64

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Gene-disease Prioritization through Cost-Sensitive Graph-based Methodologies

Journal article published in 2016 by Marco Frasca, Simone Bassis
This paper is available in a repository.
This paper is available in a repository.

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Abstract

Finding genes associated with human genetic disorders is one of the most challenging problems in bio-medicine. In this context, to guide researchers in detecting the most reliable candidate causative-genes for the disease of interest, gene prioritization methods represent a necessary support to automatically rank genes according to their involvement in the disease under study. This problem is characterized by highly unbalanced classes (few causative and much more non-causative genes) and requires the adoption of cost-sensitive techniques to achieve reliable solutions. In this work we propose a network-based methodology for disease-gene prioritization designed to expressly cope with the data imbalance. Its validation over a benchmark composed of 708 selected medical subject headings (MeSH) diseases, shows that our approach is competitive with state-of-art methodologies, and its reduced time complexity makes its application feasible on large-size datasets.