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A novel functional genomics atlas coupled with convolutional neural networks facilitates clinical interpretation of disease relevant variants in non-coding regulatory elements

Ruizhi Deng,Elena Perenthaler,Anita Nikoncuk,Soheil Yousefi,Kristina Lanko,Rachel Schot, Michela Maresca,Michael J. Parker,Wilfred F.J. van Ijcken,Joohyun Park,Marc Sturm,Tobias B. Haack,Genomics England Research Consortium,Gennady V Roshchupkin,Eskeatnaf Mulugeta,Tahsin Stefan Barakat

medrxiv（2024）

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