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Regional nonsense constraint offers clinical and biological insights into rare genetic disorders

2024-10-13 genetic and genomic medicine Title + abstract only
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Understanding the molecular consequences of variants which introduce premature termination codons (PTCs) is essential to predicting their clinical impact1. Although transcripts with PTCs are generally expected to undergo nonsense-mediated mRNA decay (NMD)2-4, up to 45% of all possible PTCs in the human genome are predicted to escape NMD5. Existing studies of constraint against predicted loss-of-function variants at the transcript level6-10 do not account for regional differences in NMD efficienc...

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