Honerlaw, Jacqueline; Ho, Yuk-Lam; Murray, Michael; Fontin, Francesca; Zielinski, Edward; Galloway, Ashley; Curcin, Vasa; Chapman, Martin; Wei, Wei-Qi; Shoaibi, Azza; Rao, Gowtham; Cho, Kelly. (2026).听.听JAMIA Open, 9(3), ooag120.听
Sharing and reusing聽phenotype definitions鈥攁lgorithms that identify patients with specific diseases or health conditions from electronic health records鈥攃an help accelerate health research. However, many phenotype libraries use different metadata standards (the information that describes how each definition was created and should be used), making it difficult to share and compare definitions across platforms. To address this challenge, the authors mapped phenotype definitions from three major repositories鈥攖he聽Observational Health Data Sciences and Informatics (OHDSI)聽library, the聽Phenotype Knowledgebase (PheKB), and聽Health Data Research UK (HDR UK)鈥攖o the聽Centralized Interactive Phenomics Resource (CIPHER)聽metadata standard. In total, 77 phenotype definitions were successfully harmonized and integrated into the CIPHER library, where they are now publicly available. These results demonstrate that phenotype metadata can be successfully standardized across multiple repositories and suggest that the CIPHER framework could serve as a foundation for a shared global metadata standard. Harmonizing phenotype libraries in this way may make it easier for researchers to find, reuse, and compare phenotype definitions, ultimately supporting more efficient and collaborative health research.
Figure 1. Phenotype library metadata integration process.CIPHER: Centralized Interactive Phenomics Resource; HDR UK: Health Data Research UK; OHDSI: Observational Health Data Sciences and Informatics; PheKB: Phenotype Knowledgebase. We identified pilot phenotypes from 3 source libraries and mapped their metadata to the CIPHER standard. Then, the standardized metadata was integrated to the site via API and manually validated before being published to the CIPHER website.Screenshots of phenotype libraries accessed at聽;听;听;听