Article
Germline sequence variation within the ribosomal DNA is associated with human complex traits.
Cell genomics - 10 Jun 2026
Rodriguez-Algarra Francisco, Whittaker Elliott, Cooper Maia, Koren Sergey, Conte Maria R, Phillippy Adam M, Mardakheh Faraz K, Evans David M, Rakyan Vardhman K
Abstract excerpt
Ribosomal RNAs (rRNAs), essential components of the ribosome, are coded by the multi-copy ribosomal DNA (rDNA). Interestingly, rDNA displays substantial variation in all species, both as inter-individual differences in copy number (CN) and inter- and intragenomic sequence variation across copies (single-nucleotide variants [SNVs] and insertions/deletions [indels]). Whether germline rDNA sequence variation...
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