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Article
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 ...
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Article
Open AccessEvoAug: improving generalization and interpretability of genomic deep neural networks with evolution-inspired data augmentations
Deep neural networks (DNNs) hold promise for functional genomics prediction, but their generalization capability may be limited by the amount of available data. To address this, we propose EvoAug, a suite of e...
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Article
ETV6 dependency in Ewing sarcoma by antagonism of EWS-FLI1-mediated enhancer activation
The EWS-FLI1 fusion oncoprotein deregulates transcription to initiate the paediatric cancer Ewing sarcoma. Here we used a domain-focused CRISPR screen to implicate the transcriptional repressor ETV6 as a uniqu...
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Article
Evaluating deep learning for predicting epigenomic profiles
Deep learning has been successful at predicting epigenomic profiles from DNA sequences. Most approaches frame this task as a binary classification relying on peak callers to define functional activity. Recentl...