Ribotin: automated assembly and phasing of rDNA morphs.
basic_science · Level V
Where this comes from
- Record sourced from PubMed, PMID 38441320.
- Also identified by DOI 10.1093/bioinformatics/btae124 and PMC identifier 10948282.
- Licence recorded as CC BY.
- The licence permits redistribution, so the abstract is shown in full and the full text is available from the publisher.
Abstract
The ribosomal DNA (rDNA) arrays are highly repetitive and homogenous regions which exist in all life. Due to their repetitiveness, current assembly methods do not fully assemble the rDNA arrays in humans and many other eukaryotes, and so variation within the rDNA arrays cannot be effectively studied. Here, we present the tool ribotin to assemble full length rDNA copies, or morphs. Ribotin uses a combination of highly accurate long reads and extremely long nanopore reads to resolve the variation between rDNA morphs. We show that ribotin successfully recovers the most abundant morphs in human and nonhuman genomes. We also find that genome wide consensus sequences of the rDNA arrays frequently produce a mosaic sequence that does not exist in the genome. Ribotin is available on https://github.com/maickrau/ribotin and as a package on bioconda.
Medical subject headings
- Genome
- Software