The landscape of tolerated genetic variation in humans and primates
Hong Chao Gao, Tobias Hamp, Jeffrey M. Ede, Joshua G. Schraiber, Jeremy F. McRae, Moriel Singer‐Berk, Yanshen Yang, Anastasia S. D. Dietrich, Petko P. Fiziev, Lukas F. K. Kuderna, Laksshman Sundaram, Yibing Wu, Aashish N. Adhikari, Yair Field, Chen Chen, , Kyle Kai‐How Farh
The paper uses primate genetic data to predict human variant pathogenicity with a deep learning classifier trained on 4.3 million common missense variants.
Science · Jun 1, 2023Peer-reviewedGenomics