Clinical significance of mRNA nonstop decay in rare disease diagnosis and recommendations for its application in variant classification

Abstract excerpt

<title>Abstract</title> <p> <bold>Background</bold> : Nonsense-mediated decay (NMD) is routinely considered during clinical interpretation of predicted loss-of-function (LoF) variants, whereas mRNA nonstop decay (NSD)—a translation-coupled surveillance pathway that degrades transcripts lacking an in-frame termination codon—is rarely considered. Variants that abolish the canonical stop codon or remove the final...

Topics

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• Alternative Splicing
• Codon, Nonsense
• Computational Biology
• Gene Expression Regulation
• Mutation
• RNA, Messenger
• RNA Splicing
• RNA, Untranslated

Identifiers and source

Literature Corpus work

a793f6b5-d3bb-5fbd-99d7-2d2d18e2f395

DOI

10.21203/rs.3.rs-9126009/v1