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Variant effect prediction

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

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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