Evidence map›Paper›PMID 41424763›Full record

ArticleNAR genomics and bioinformatics2025

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

Abstract read
In one paragraph

Article in NAR genomics and bioinformatics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

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Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors.

Jose Miguel RamirezDepartment of Life Sciences, Barcelona Supercomputing Center (BSC), C/ Jordi Girona 29, Barcelona 08034, Spain.
Winona OliverosDepartment of Life Sciences, Barcelona Supercomputing Center (BSC), C/ Jordi Girona 29, Barcelona 08034, Spain.
Raquel García-PérezDepartment of Life Sciences, Barcelona Supercomputing Center (BSC), C/ Jordi Girona 29, Barcelona 08034, Spain.
Alba Jimenez-LupiañezDepartment of Life Sciences, Barcelona Supercomputing Center (BSC), C/ Jordi Girona 29, Barcelona 08034, Spain.
Aisha ShahDepartment of Life Sciences, Barcelona Supercomputing Center (BSC), C/ Jordi Girona 29, Barcelona 08034, Spain.
Pablo Perez-CanoDepartment of Life Sciences, Barcelona Supercomputing Center (BSC), C/ Jordi Girona 29, Barcelona 08034, Spain.
Fairlie ReeseDepartment of Life Sciences, Barcelona Supercomputing Center (BSC), C/ Jordi Girona 29, Barcelona 08034, Spain.
Miguel VazquezDepartment of Life Sciences, Barcelona Supercomputing Center (BSC), C/ Jordi Girona 29, Barcelona 08034, Spain.
Marta MeléDepartment of Life Sciences, Barcelona Supercomputing Center (BSC), C/ Jordi Girona 29, Barcelona 08034, Spain.ORCID https://orcid.org/0000-0001-8874-6453

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Ribosomal DNA (rDNA) is arranged in tandem repeats in the human genome. Extensive genetic and copy number variation in rDNA has been reported both within and between individuals, contributing to phenotypic diversity. However, traditional variant callers, designed for diploid regions, have not been systematically benchmarked for analyzing rDNA. We developed a customized simulator that replicates real intra- and inter-individual rDNA variation to benchmark the performance of commonly used variant callers, including GATK, Mutect2, and Lofreq*. Additionally, we optimized the preprocessing and mapping steps to significantly improve accuracy. Based on these optimizations, we introduce

Indexed as

DNA Copy Number VariationsDNA, RibosomalGenetic VariationSoftwareGenome, HumanHumansWhole Genome SequencingDNA, Ribosomal

Identifiers

PMID41424763
PMCPMC12714689

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.