Mapping the regulatory effects of common and rare non-coding variants across cellular and developmental contexts in the brain and heart
Andrew R. Marderstein, Soumya Kundu, Evin M. Padhi, Salil Deshpande, Austin Wang, Esther Robb, Ying Sun, Chang M. Yun, Diego A. Pomales-Matos, Yilin Xie, Daniel C. Nachun, Selin Jessa, Anshul Bharat Kundaje, Stephen B. Montgomery
The paper predicts the regulatory effects of non-coding variants across brain and heart cellular contexts using deep learning, identifying rare variants with significant developmental impacts.
bioRxiv · Feb 18, 2025 · PreprintGenomics