Approved research

Pathway and network analysis of the genotype to phenotype relationship

Lay summary

Population-wide collection of human genome data promises to help identify mutations that cause genetic diseases and other traits. However, a major challenge is to identify which mutations are responsible and predict their effect on an individual. Knowledge about how cells and our bodies work can be used to increase our ability to identify disease causing mutations. In particular, mutations that cause a disease are likely to affect biological systems in our bodies that are related to that disease. For example, a mutation in a system active in the heart is more likely to cause a heart disease compared to mutations in systems not involved in the heart. Knowing which systems to examine increases our chances of finding important mutations compared to traditional methods that don't use this information. We are developing new analysis methods to use this systems biology principle to mine through large amounts of genetic information to identify mutations involved in disease and other phenotypes. This will help us better understand the mechanisms underlying disease, which may lead to improved diagnosis and treatments in the future.