A computational framework for defining and validating reproducible phenotyping algorithms of 313 diseases in the UK Biobank

A computational framework for defining and validating reproducible phenotyping algorithms of 313 diseases in the UK Biobank

Abstract Accurate and reproducible phenotyping is essential for large-scale biomedical research. However, developing robust phenotype definitions in biobanks is challenging due to diverse data sources and varying medical ontologies. As a result, the current phenotyping landscape is fragmented. We de...

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Main Authors: Ana Torralbo, Jonathan M. Davitte, Damien C. Croteau-Chonka, Cai Ytsma, Chris Tomlinson, Natalie K. Fitzpatrick, Sheng-Chia Chung, Ghazaleh Fatemifar, Adrian S. Cortes, Tom G. Richardson, Matthew Barclay, Julia Carrasco-Zanini, Chris Finan, Harry Hemingway, Aroon D. Hingorani, Valerie Kuan, Claudia Langenberg, Georgios Lyratzopoulos, R. Thomas Lumbers, Maik Pietzner, Anoop D. Shah, Johan H. Thygesen, Natalie Zelenka, John C. Whittaker, Margaret G. Ehm, Spiros Denaxas
Format: Article
Language:English
Published: Nature Portfolio 2025-07-01
Series:Scientific Reports
Online Access:https://doi.org/10.1038/s41598-025-05838-9
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https://doi.org/10.1038/s41598-025-05838-9

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