Improving disease gene prioritization using the semantic similarity of Gene Ontology terms.

ABSTRACT:

Motivation

Many hereditary human diseases are polygenic, resulting from sequence alterations in multiple genes. Genomic linkage and association studies are commonly performed for identifying disease-related genes. Such studies often yield lists of up to several hundred candidate genes, which have to be prioritized and validated further. Recent studies discovered that genes involved in phenotypically similar diseases are often functionally related on the molecular level.

Results

Here, we introduce MedSim, a novel approach for ranking candidate genes for a particular disease based on functional comparisons involving the Gene Ontology. MedSim uses functional annotations of known disease genes for assessing the similarity of diseases as well as the disease relevance of candidate

SUBMITTER: Schlicker A 

PROVIDER: S-EPMC2935448 | biostudies-literature | 2010 Sep

REPOSITORIES: biostudies-literature