DIGGIT: a Bioconductor package to infer genetic variants driving cellular phenotypes.
basic_science · Level V
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- Record sourced from PubMed, PMID 26338767.
- Also identified by DOI 10.1093/bioinformatics/btv499 and PMC identifier 4692968.
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Abstract
Identification of driver mutations in human diseases is often limited by cohort size and availability of appropriate statistical models. We propose a method for the systematic discovery of genetic alterations that are causal determinants of disease, by prioritizing genes upstream of functional disease drivers, within regulatory networks inferred de novo from experimental data. Here we present the implementation of Driver-gene Inference by Genetical-Genomic Information Theory as an R-system package. The diggit package is freely available under the GPL-2 license from Bioconductor (http://www.bioconductor.org).
Medical subject headings
- Mutation
- Software