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Ribosomal DNA copy number variation shapes human physiology and disease risk

2026-01-13 genetic and genomic medicine Title + abstract only
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1Variation in ribosomal DNA (rDNA) copy number influences diverse physiological traits in model organisms, yet its consequences for human health remain poorly characterized. Here, we provide the largest analysis of 45S rDNA copy number to date and the first population-scale characterization of 5S using whole-genome sequencing from 490,383 UK Biobank participants. Despite encoding components of the same molecular machine, these arrays vary independently and associate with divergent phenotypes. Hi...

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