Ribotin: Automated assembly and phasing of rDNA morphs

Research output: Contribution to journalArticleScientificpeer-review

Abstract

Motivation: 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. Results: 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.

Original languageEnglish
Article numberbtae124
JournalBioinformatics
Volume40
Issue number3
Number of pages8
ISSN1367-4803
DOIs
Publication statusPublished - 1 Mar 2024
MoE publication typeA1 Journal article-refereed

Bibliographical note

Publisher Copyright:
© 2024 The Author(s). Published by Oxford University Press.

Fields of Science

  • 318 Medical biotechnology
  • 11832 Microbiology and virology

Cite this