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Variant effect prediction

Current approaches to genomic deep learning struggle to fully capture human genetic variation

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Deep learning shows promise for predicting gene expression levels from DNA sequences. However, recent studies show that current state-of-the-art models struggle to accurately characterize expression variation from personal genomes, limiting their usefulness in personalized medicine.

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Fig. 1: Evaluation of Enformer in predicting individual-specific gene expression.

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Correspondence to Peter K. Koo.

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Tang, Z., Toneyan, S. & Koo, P.K. Current approaches to genomic deep learning struggle to fully capture human genetic variation. Nat Genet 55, 2021–2022 (2023). https://doi.org/10.1038/s41588-023-01517-5

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  • DOI: https://doi.org/10.1038/s41588-023-01517-5

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