Visualization Technique for Mutation Functional Analysis

Abstract

A great body of research have been devoted in the past two decades to understanding gene functions, gene mutations, and mutation-disease relationships. In this paper, we present a method for exploring and understanding mutation functions using visualization and graphics representation. Functional annotation of human gene mutations is an important step in mutation pathogenicity prediction and understanding diseases progress and mechanisms. The presented visualization method is based on identifying the most significant and most specific sets of functions for a given set of mutations under a target disease or medical condition. The presented visualization allows for easy and effective understanding of the details and differences among the various sets of functions of the given mutations under certain disease or medical condition.