A genomic data fusion framework to exploit rare and common variants for association discovery

Simone Marini, Ivan Limongelli, Ettore Rizzo, Tan Da, Riccardo Bellazzi

Research output: Chapter in Book/Report/Conference proceedingConference contribution

Abstract

Collapsing methods are used in association studies to exploit the effect of genetic rare variants in diseases. In this work we model an enriched collapsing approach by including genes, protein domains, pathways and protein-protein interactions data. We applied the collapsing technique to a data set of epileptic (85 cases) and healthy (61 controls) subjects. The method retrieved 4 genes, 5 domains, 33 gene interactions and 14 pathways showing a significant association with the disease. Collapsed data have been also used as features for prediction models. We found that the use of protein-protein interactions as model features increases the area under ROC curve (+1. 5%) if compared to the solely gene-based approach.

Original languageEnglish
Title of host publicationLecture Notes in Computer Science (including subseries Lecture Notes in Artificial Intelligence and Lecture Notes in Bioinformatics)
PublisherSpringer Verlag
Pages101-105
Number of pages5
Volume9105
ISBN (Print)9783319195506
DOIs
Publication statusPublished - 2015
Event15th Conference on Artificial Intelligence in Medicine, AIME 2015 - Pavia, Italy
Duration: Jun 17 2015Jun 20 2015

Publication series

NameLecture Notes in Computer Science (including subseries Lecture Notes in Artificial Intelligence and Lecture Notes in Bioinformatics)
Volume9105
ISSN (Print)03029743
ISSN (Electronic)16113349

Other

Other15th Conference on Artificial Intelligence in Medicine, AIME 2015
CountryItaly
CityPavia
Period6/17/156/20/15

Keywords

  • Associations study
  • Collapsing method
  • Epilepsy
  • Genetic pathway
  • Machine learning
  • Protein domain
  • Protein-protein interaction
  • Rare genetic variants

ASJC Scopus subject areas

  • Computer Science(all)
  • Theoretical Computer Science

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  • Cite this

    Marini, S., Limongelli, I., Rizzo, E., Da, T., & Bellazzi, R. (2015). A genomic data fusion framework to exploit rare and common variants for association discovery. In Lecture Notes in Computer Science (including subseries Lecture Notes in Artificial Intelligence and Lecture Notes in Bioinformatics) (Vol. 9105, pp. 101-105). (Lecture Notes in Computer Science (including subseries Lecture Notes in Artificial Intelligence and Lecture Notes in Bioinformatics); Vol. 9105). Springer Verlag. https://doi.org/10.1007/978-3-319-19551-3_12