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

Ray Jubela | January 4, 2024

Analysis of over 29,000 neurodevelopmental disorder parent-offspring trios for de novo protein-truncating variants in the nonsense mediated decay escape regions (PTVesc), resulting in identification of 22 candidate Mendelian genes and 22 known Mendelian genes that were not previously known to have PTVesc-associated disease.

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Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populations →