Sammanfattning
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.
| Originalspråk | engelska |
|---|---|
| Artikelnummer | btae124 |
| Tidskrift | Bioinformatics |
| Volym | 40 |
| Nummer | 3 |
| Antal sidor | 8 |
| ISSN | 1367-4803 |
| DOI | |
| Status | Publicerad - 1 mars 2024 |
| MoE-publikationstyp | A1 Tidskriftsartikel-refererad |
Bibliografisk information
Publisher Copyright:© 2024 The Author(s). Published by Oxford University Press.
Vetenskapsgrenar
- 318 Medicinsk bioteknologi
- 11832 Mikrobiologi och virologi