Systematic analysis of variants escaping nonsense-mediated decay uncovers candidate Mendelian diseases

We examined individuals with neurodevelopmental disorders referred for clinical exome sequencing for gene-level enrichment of de novo PTVesc and phenotypic similarity analysis. This analysis identified PTVesc as a mutation spectrum in established and candidate Mendelian disease-gene associations.

Source: The American Journal of Human Genetics - December 12, 2023 Category: Genetics & Stem Cells Authors: Rebecca I. Torene, Maria J. Guillen Sacoto, Francisca Millan, Zhancheng Zhang, Stephen McGee, Matthew Oetjens, Elizabeth Heise, Karen Chong, Richard Sidlow, Lauren O ’Grady, Inderneel Sahai, Christa L. Martin, David H. Ledbetter, Scott M. Myers, Kevin J Tags: Article Source Type: research