In vivo versus in silico assessment of potentially pathogenic missense variants in human reproductive genes
Xinbao Ding, Priti Singh, Kerry J. Schimenti, Tina N. Tran, Robert Fragoza, Jimmaline J. Hardy, Kyle E. Orwig, Maciej Krzysztof Kurpisz, Alexander N. Yatsenko, Donald F. Conrad, Haiyuan Yu, John C. Schimenti
The paper evaluates the functional impact of missense variants in human reproductive genes using mouse models and finds that many predicted pathogenic variants do not cause detectable phenotypes.
bioRxiv · Oct 12, 2021 · PreprintGenetics