These data sets contain automatically aligned family history concepts derived from a clinical corpus to map disease category resources, including Clinical Classification System (CCS), Phecode, Comparative Toxicogenomics Database (CTD), Human phenotype ontology, and Human disease ontology (HDO).
The Distinguished Paper Award Paper from American Medical Informatics Association 2022 Annual Symposium: Moon S, Wang L, Chen X, Wang N, Manemann SM, Larson NB, Bielinski SJ, Liu H. Bridging the Granularity Gap in Family History Information Extracted from Clinical Narratives. American Medical Informatics Association 2022 Annual Symposium. Nov 2022.