Uncovering genetic architecture of the heart via genetic association studies of unsupervised deep learning derived endophenotypes
Lei You, Xingzhong Zhao, Ziqian Xie, Khush A Patel, Cheng Chen, Danai Kitkungvan, Kamil Khan Mohammed, Navneet Narula, Eloisa Arbustini, Craig K. Cassidy, Jagat Narula, Degui Zhi
This study uses deep learning to derive image phenotypes from cardiac MRI and performs GWAS, identifying 323 SNPs and 628 genes associated with cardiac traits and diseases.
bioRxiv · Sep 17, 2025 · PreprintBioinformatics