Pathway-based, reaction-specific annotation of disease variants for elucidation of molecular phenotypes
Marija Orlic-Milacic, Karen Rothfels, Lisa R. Matthews, Adam Wright, Bijay Jassal, Veronica Shamovsky, Quang M. Trinh, Marc E. Gillespie, Cristoffer Sevilla, Krishna Kumar Tiwari, Eliot Ragueneau, Chuqiao Gong, Ralf Stephan, Bruce May, Robin Haw, , Guanming Wu
The paper annotates disease variants in the context of biological pathways to infer molecular phenotypes and model variant impacts.
Database · Jan 1, 2024Peer-reviewedSystems Biology