Phenotype Inference with Semi-Supervised Mixed Membership Models

Disease phenotyping algorithms are designed to sift through clinical data stores to identify patients with specific diseases. Supervised phenotyping methods require significant quantities of expert-labeled data, while unsupervised methods may learn spurious or 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 partially labeled clinical data. We show SS3M can generate interpretable, disease-specific phenotypes which capture the clinical features of the disease concepts specified by the labels provided to the model. Furthermore, SS3M phenotypes demonstrate competitive predictive performance relative to commonly used baselines.