Modeling and Mining Human Disease Phenotypes using Research and Clinical Data

With completion of human genome sequencing, significant research efforts are underway to find which genetic variants relate to health and disease. Success in these endeavors depend upon having available a model of disease phenotypes. Phenomics—the systematic cataloging and analysis of phenotypes on a genome-wide scale—is now emerging as a scientific field. In this combined talk, we will discuss research in the lab that is addressing this challenge. Amar Das will review how psychiatric genetics researchers have modeled the phenome for various mental health disorders. Lakshika Tennakoon will present her work on how phenotype patterns are defined in the autism genetics literature. David Chen will present his work on using clinical laboratory results as phenotypic expressions of disease severity. David Kao will discuss a phenotype modeling approach using OWL ontologies to classify patients with heart failure based on etiology.