Feature extraction for phenotyping from semantic and knowledge resources

Phenotyping algorithms can efficiently and accurately identify patients with a specific disease phenotype and construct electronic health records (EHR)-based cohorts for subsequent clinical or genomic studies. Previous studies have introduced unsupervised EHR-based feature selection methods that yielded algorithms with high accuracy. However, those selection methods still require expert intervention to tweak the parameter settings according to the EHR data distribution for each phenotype. To further accelerate the development of phenotyping algorithms, we propose a fully automated and robust unsupervised feature selection method that leverages only publicly available medical knowledge sources, instead of EHR data.

SEmantics-Driven Feature Extraction (SEDFE) collects medical concepts from online knowledge sources as candidate features and gives them vector-form distributional semantic representations derived with neural word embedding and the Unified Medical Language System Metathesaurus. A number of features that are semantically closest and that sufficiently characterize the target phenotype are determined by a linear decomposition criterion and are selected for the final classification algorithm.

SEDFE was compared with the EHR-based SAFE algorithm and domain experts on feature selection for the classification of five phenotypes including coronary artery disease, rheumatoid arthritis, Crohn's disease, ulcerative colitis, and pediatric pulmonary arterial hypertension using both supervised and unsupervised approaches. Algorithms yielded by SEDFE achieved comparable accuracy to those yielded by SAFE and expert-curated features. SEDFE is also robust to the input semantic vectors.

SEDFE attains satisfying performance in unsupervised feature selection for EHR phenotyping. Both fully automated and EHR-independent, this method promises efficiency and accuracy in developing algorithms for high-throughput phenotyping.