Article

Unveiling the Hidden Rules: Enhancing NMD Prediction for Protein-Truncating Variants

2026-07-01

Abstract excerpt

<h4>Summary</h4> Nonsense-mediated decay (NMD) is a conserved RNA quality-control pathway that degrades transcripts containing premature termination codons. Because roughly a third of pathogenic variants in ClinVar can lead to truncated protein synthesis, predicting whether such transcripts undergo NMD is central to interpreting variant effects, yet the canonical 50–55 nucleotide rule explains only about half of...

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Literature Corpus work: cbbc8e4d-d517-5eab-9343-5601e69abb19
DOI: 10.64898/2026.06.26.734884

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