Understanding the underlying factors that cause inherited diseases to develop is an important step in improving the health status of individuals, and identifying effective prevention and control measures. This project aims to apply fundamental know of genetics, genome sequence analysis, modeling and simulations, and bio-informatics to uncover the relationship between these factors and assess the risk of such diseases. This understanding will help design health policy and pharmacological measures that reduce the risk of inherited diseases, and could potentially interrupt the ongoing cycle of such diseases. The project will be undertaken within an academic-industry partnership environment, and therefore provides significant benefits for interns to benefit from interdisciplinary collaborations with applications to individual and populations health. Furthermore, this project will result in development of advanced genome annotation software required for the analysis of Geneyouin’s clients’ genomes – it is critical to have such tools to scale up genome analysis. The HQP recruited and trained during this project will have intimate knowledge and understanding of Geneyouin’s genome analysis approach, IT systems and corporate culture thus will be considered as top candidates for future full time employment at Geneyouin.