Article
Determinants of functional burden pleiotropy and gene dosage responses across human traits.
Nature communications - 14 Aug 2026
Kazem Sayeh, Kumar Kuldeep, Yang Jane, Benitiere Florian, Huguet Guillaume, Mollon Josephine, Renne Thomas, Schultz Laura M, Knowles Emma E M, Engchuan Worrawat, Shanta Omar, Thiruvahindrapuram Bhooma, MacDonald Jeffrey R, Greenwood Celia M T, Scherer Stephen W, Almasy Laura, Sebat Jonathan, Glahn David C, Dumas Guillaume, Jacquemont Sébastien
Abstract excerpt
Pleiotropic and monotonic effects of gene dosage are central to understanding comorbidities in developmental pediatric and psychiatric disorders, yet the underlying biological processes are not well characterized. Here we develop a functional burden analysis to investigate the association of all protein-coding copy-number variants, genome-wide, with 43 complex traits in approximately 500,000 UK Biobank...
Read the complete abstract on PubMedTopics
- Humans
- Gene Dosage
- Genetic Pleiotropy
- Polymorphism, Single Nucleotide