Germline sequence variation within the ribosomal DNA is associated with human complex traits
Francisco Rodríguez-Algarra, Elliott Whittaker, Maia Cooper, Sergey Koren, Maria R. Conte, Adam M. Phillippy, Faraz K. Mardakheh, David M. Evans, Vardhman K. Rakyan
The paper identifies rDNA sequence variants associated with human traits using UK Biobank data, finding enrichment in body size traits within the 28S rRNA Expansion Segment 15L region.
Cell Genomics · Apr 10, 2026Peer-reviewedGenetics