Phenotype Inference with Semi-Supervised Mixed Membership Models

Abstract: Disease phenotyping algorithms process observational clinical data to identify patients with specific diseases. Supervised phenotyping methods require significant quantities of expert-labeled data, while unsupervised methods may learn non-disease phenotypes. To address these limitations, we propose the Semi-Supervised Mixed Membership Model (SS3M) -- a probabilistic graphical model for learning disease phenotypes from clinical data with relatively few labels. We show SS3M can learn interpretable, disease-specific phenotypes which capture the clinical characteristics of the diseases specified by the labels provided.