Bioinformatics prediction tools to help validating gene function defects

Abstract

Presentation Description : We would like to present what kind of bioinformatics tools and anlyses that can help to interpret mutations that identified from exome sequencing of eye diseases families in terms of protein function and molecular mechanism. This will help to correlate genotype-phenotype information.

This is an abstract that was submitted for the 2016 ARVO Annual Meeting, held in Seattle, Wash., May 1-5, 2016.