Martin Chapman, Shahzad Mumtaz, Luke V Rasmussen, Andreas Karwath, Georgios V Gkoutos, Chuang Gao, Dan Thayer, Jennifer A Pacheco, Helen Parkinson, Rachel L Richesson, Emily Jefferson, Spiros Denaxas, Vasa Curcin
BACKGROUND: High-quality phenotype definitions are desirable to enable the extraction of patient cohorts from large electronic health record repositories and are characterized by properties such as portability, reproducibility, and validity. Phenotype libraries, where definitions are stored, have the potential to contribute significantly to the quality of the definitions they host. In this work, we present a set of desiderata for the design of a next-generation phenotype library that is able to ensure the quality of hosted definitions by combining the functionality currently offered by disparate tooling...
September 11, 2021: GigaScience