Please join us Friday, June 22, from 1:00-2:30pm for the Special Lecture in the 3rd “Big Data Training for Translational Omics Research” Boot Camp.

Location: RAWL 1057

Title: Squeezing More Information from the Medical Phenome: New Methods for Discovery

Speaker: Nancy Cox, Mary Phillips Edmonds Gray Professor of Genetics, Director of the Vanderbilt Genetics Institute, Director of the Division of Genetic Medicine

Abstract: One of the most challenging problems in modern human genetics is going from the discovery of SNP associations to the identification of the gene (or other functional unit) at the root of the SNP association, and then to understanding how and why altering the function of this gene (or other functional unit) gives rise to the phenotype with which the SNP was associated. We have recently shown that phenome risk scores can be used to distinguish people with Mendelian disease from those without (Bastarache et al, 2018). We are now extending this concept to allow us to search for the medical phenome associated with the genetically determined expression of genes whose function is already well characterized. We then use the associated phenome to construct phenome risk scores to identify additional genes that may be acting within this same functional pathway. We see this as an alternative path to understanding how genetic variation functions to affect the medical phenome.