Genetic & Genomic MedicineFrontiers in Molecular BiosciencesPeer-reviewed
A curated census of pathogenic and likely pathogenic UTR variants and evaluation of deep learning models for variant effect prediction
Emma Bohn, Tammy T. Y. Lau, Omar Wagih…·Daniele Merico
The paper curates a high-confidence set of pathogenic and likely pathogenic UTR variants and evaluates deep learning models for predicting their functional impact.
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