Expanding the Atlas of Functional Missense Variation for Human Genes
Jochen Weile, Song Sun, Atina G. Coté, Jennifer J. Knapp, Marta Verby, Joseph C. Mellor, Yingzhou Wu, Carles Pons, Cassandra J. Wong, Natascha van Lieshout, Fan Yang, Murat Tasan, Guihong Tan, Shan Yang, Douglas M. Fowler, , Frederick P. Roth
This paper develops a deep mutational scanning framework to map functional missense variants in human genes and applies it to four proteins, identifying pathogenic variants and showing scalability to disease genes.
Molecular Systems Biology · Dec 1, 2017Peer-reviewedMolecular Biology