Determinants of functional burden pleiotropy and gene dosage responses across human traits
Sayeh Kazem, Kuldeep Kumar, Jane Yang, Florian Bénitière, Guillaume Huguet, Josephine Mollon, Thomas Renne, Laura M. Schultz, Emma E. M. Knowles, Worrawat Engchuan, Omar Shanta, Bhooma Thiruvahindrapuram, Jeffrey R. MacDonald, Celia M.T. Greenwood, Stephen W. Scherer, , Sébastien Jacquemont
The paper develops FunBurd to analyze gene dosage effects on 43 traits in UK-Biobank, finding pleiotropy and non-monotonic responses linked to genetic constraint and brain-specific mechanisms.
Nature Communications · Aug 14, 2026Peer-reviewedGenetic & Genomic Medicine