rDNAcaller: a fast and robust pipeline to call ribosomal DNA variants
Jose Miguel Ramirez, Winona Oliveros, Raquel García-Pérez, Alba Jimenez-Lupiañez, Aisha Shah, Pablo Perez-Cano, Fairlie Reese, Miguel Vazquez, Marta Melé
The paper introduces rDNAcaller, a pipeline for accurate rDNA variant detection using short-read whole-genome sequencing, achieving 94% precision and identifying 5,607 novel variant positions across human populations.
NAR Genomics and Bioinformatics · Oct 7, 2025Peer-reviewedBioinformatics