• Evaluation of polygenic scoring methods in five biobanks shows larger variation between biobanks than methods and finds benefits of ensemble learning 

      Monti, Remo; Eick, Lisa; Hudjashov, Georgi; Läll, Kristi; Kanoni, Stavroula; Wolford, Brooke Nichole; 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 (Peer reviewed; Journal article, 2024)
      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 ...
    • Genome-wide risk prediction of common diseases across ancestries in one million people 

      Mars, Nina; Kerminen, Sini; Feng, Yen-Chen A.; Kanai, Masahiro; Läll, Kristi; Thomas, Laurent Francois; Skogholt, Anne Heidi; della Briotta Parolo, Pietro; Neale, Benjamin M.; Smoller, Jordan W.; Gabrielsen, Maiken Elvestad; Hveem, Kristian; Mägi, Reedik; Matsuda, Koichi; Okada, Yukinori; Pirinen, Matti; Palotie, Aarno; Ganna, Andrea; Martin, Alicia R.; Ripatti, Samuli (Peer reviewed; Journal article, 2022)
      Polygenic risk scores (PRS) measure genetic disease susceptibility by combining risk effects across the genome. For coronary artery disease (CAD), type 2 diabetes (T2D), and breast and prostate cancer, we performed ...