Randomized trial benchmarks RNA modification detection using basecalling models, suggesting limitations due to false-positive predictions.
Nanopore direct RNA sequencing holds promise for advancing our understanding of the epitranscriptome. Recently, Oxford Nanopore Technologies released basecalling models capable of detecting N6-methyladenosine (m6A), inosine (I), pseudouridine (Ψ), and 5-methylcytosine (m5C). However, their performance and cross-reactivity with other modifications remain largely unexplored. Here, we systematically benchmark four available modification-aware basecalling models by evaluating their per-read and per-site predictions across synthetic molecules and biological samples from diverse species. Models performed well on highly modified, balanced synthetic constructs (AUC = 0.93-0.97, PR-AUC = 0.84-0.91), but their performance dropped sharply on unbalanced datasets that reflect modification abundances in biological samples (PR-AUC: 0.04-0.09). Analysis of in vivo rRNA samples confirmed this limitation, with false-discovery rate ranging from 50% to 100%, even after filtering with modification-free controls. We identify two major sources of false positives: cross-reactivities with other modifications and current alterations at sites neighbouring a modified residue. Finally, we demonstrate that basecalling error- and current-based methods can accurately detect modifications, offering effective alternatives for modifications lacking dedicated models. Our results highlight the utility and limitations of modification-aware basecalling models for RNA modification detection, and underscore the importance of including control samples to mitigate false-positive predictions.
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Diensthuber et al. (2026) studied this question.
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