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Genome-Wide Analysis Reveals a Role of Non-coding 3'untranslated Region Variants Affecting Cleavage and Polyadenylation in Undiagnosed Rare Disorders

2025-02-21 genetic and genomic medicine Title + abstract only
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Cleavage and polyadenylation of pre-mRNAs are essential for transcription termination and the normal expression of eukaryotic genes. However, the extent to which mutations in cleavage and polyadenylation signals act as causal variants in rare Mendelian disorders remains unknown. Using deep learning models, we identified enrichment of alleles predicted to disrupt polyadenylation in a large cohort of undiagnosed probands with rare disease disorders from the Genomics England 100kGP dataset. These a...

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