Article
Nonsense-mediated decay is highly stable across individuals and tissues.
American journal of human genetics - 5 Aug 2021
Teran Nicole A, Nachun Daniel C, Eulalio Tiffany, Ferraro Nicole M, Smail Craig, Rivas Manuel A, Montgomery Stephen B
Abstract excerpt
Precise interpretation of the effects of rare protein-truncating variants (PTVs) is important for accurate determination of variant impact. Current methods for assessing the ability of PTVs to induce nonsense-mediated decay (NMD) focus primarily on the position of the variant in the transcript. We used RNA sequencing of the Genotype Tissue Expression v.8 cohort to compute the efficiency of NMD using allelic...
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