PBRIT: gene prioritization by correlating functional and phenotypic annotations through integrative data fusion.

ABSTRACT:

Motivation

Computational gene prioritization can aid in disease gene identification. Here, we propose pBRIT (prioritization using Bayesian Ridge regression and Information Theoretic model), a novel adaptive and scalable prioritization tool, integrating Pubmed abstracts, Gene Ontology, Sequence similarities, Mammalian and Human Phenotype Ontology, Pathway, Interactions, Disease Ontology, Gene Association database and Human Genome Epidemiology database, into the prediction model. We explore and address effects of sparsity and inter-feature dependencies within annotation sources, and the impact of bias towards specific annotations.

Results

pBRIT models feature dependencies and sparsity by an Information-Theoretic (data driven) approach and applies intermediate integration based

SUBMITTER: Kumar AA 

PROVIDER: S-EPMC6022555 | biostudies-literature | 2018 Jul

REPOSITORIES: biostudies-literature