Deep Mutational Scanning in Disease-related Genes with Saturation Mutagenesis-Reinforced Functional Assays (SMuRF)
Kaiyue Ma, Shushu Huang, Kenneth K.H. Ng, Nicole J. Lake, Soumya Joseph, Jiangxingzi Xu, Angela Lek, Lin Ge, Keryn G. Woodman, Katherine E. Koczwara, Justin Cohen, Vincent Ho, Christine L. O’Connor, Melinda Ann Brindley, Kevin P. Campbell, Monkol Lek
This paper introduces SMuRF, a framework for deep mutational scanning in disease-related genes, generating functional scores for all coding variants and aiding in variant interpretation.
bioRxiv · Jul 12, 2023 · PreprintGenetics