Article
Diversity of ribosomes at the level of rRNA variation associated with human health and disease.
Cell genomics - 11 Sept 2024
Rothschild Daphna, Susanto Teodorus Theo, Sui Xin, Spence Jeffrey P, Rangan Ramya, Genuth Naomi R, Sinnott-Armstrong Nasa, Wang Xiao, Pritchard Jonathan K, Barna Maria
Abstract excerpt
With hundreds of copies of rDNA, it is unknown whether they possess sequence variations that form different types of ribosomes. Here, we developed an algorithm for long-read variant calling, termed RGA, which revealed that variations in human rDNA loci are predominantly insertion-deletion (indel) variants. We developed full-length rRNA sequencing (RIBO-RT) and in situ sequencing (SWITCH-seq), which showed that...
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