Lisa Bastarache, MS
Research Assistant Professor, Biomedical Informatics
Vanderbilt University
Polygenic and poly-phenomic approaches to disease prediction
Polygenic risk scores (PRS) combine many common genetic variants together to predict disease risk. Another method called the phenotype risk score (PheRS) applies this basic idea to the human phenotype. PheRS is a method that combine multiple phenotypes that are characteristic of a Mendelian disease, creating a score that measures a patient’s similarity to that disease profile. In this talk, I will discuss PheRS method as well as ways that the phenome can both inform and compliment genetic based predictions.
