Ribosomal DNA copy number variation shapes human physiology and disease risk
Anil Raj, Jordan Brown, Nathaniel H. Thayer, Manuel Hotz, Irene Lam, Nicole L. Fong, Elena P. Sorokin, Marjola Thanaj, Daphna Rothschild, Jonathan K. Pritchard, Maria Barna, David G. Hendrickson
The paper analyzes rDNA copy number variation in humans, finding distinct associations with metabolic diseases and growth traits.
medRxiv · Jan 13, 2026 · PreprintGenetic & Genomic Medicine