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rDNAcaller: a fast and robust pipeline to call ribosomal DNA variants

2025-05-13

Abstract excerpt

Ribosomal DNA (rDNA) genes are essential components of the ribosome, organized as tandem repeats on the mammalian genomes. Extensive genetic and copy number variation in rDNA has been reported both within and between individuals, contributing to phenotypic diversity. However, previous rDNA variant calling strategies have relied on methods designed for diploid regions and have not been systematically benchmarked. W...

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Identifiers and source

Literature Corpus work
10857a09-8698-5265-85b4-2bc45c528f75
DOI
10.1101/2025.05.13.653643
Open publication

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rDNAcaller: a fast and robust pipeline to call ribosomal DNA variantsDOI 10.1101/2025.05.13.653643
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