Article
Evaluation of polygenic scoring methods in five biobanks shows larger variation between biobanks than methods and finds benefits of ensemble learning.
American journal of human genetics - 11 Jul 2024
Monti Remo, Eick Lisa, Hudjashov Georgi, Läll Kristi, Kanoni Stavroula, Wolford Brooke N, Wingfield Benjamin, Pain Oliver, Wharrie Sophie, Jermy Bradley, McMahon Aoife, Hartonen Tuomo, Heyne Henrike, Mars Nina, Lambert Samuel, Hveem Kristian, Inouye Michael, van Heel David A, Mägi Reedik, Marttinen Pekka, Ripatti Samuli, Ganna Andrea, Lippert Christoph
Abstract excerpt
Methods of estimating polygenic scores (PGSs) from genome-wide association studies are increasingly utilized. However, independent method evaluation is lacking, and method comparisons are often limited. Here, we evaluate polygenic scores derived via seven methods in five biobank studies (totaling about 1.2 million participants) across 16 diseases and quantitative traits, building on a reference-standardized...
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