Analysis of Gene Variants for Functional Annotations

The study and analysis of functional annotations of human genes and gene variants are important for understanding functional genomics and gene-disease associations. This paper investigates the process of functional annotation of gene variants using the gene ontology. The paper also presents a method for annotating gene variants with biological process terms from the gene ontology. The presented method relies on identifying the enriched biological processes of the genes associated with the given genetic variants. With significant level of , the results found to be biologically significant. Furthermore, we found that certain ontology annotations e.g. {GO:0031325; positive regulation of cellular metabolic process} are more connected with mutations via certain genes compared with normal biological process terms in the gene ontology.