Article
Image-based, pooled phenotyping reveals multidimensional, disease-specific variant effects.
Cell - 25 Jun 2026
Pendyala Sriram, Partington Katie, Bradley Nicholas, McEwen Abbye E, Straub Gwenneth, Kim Hyeon-Jin, Fayer Shawn, Holmes Daniel Lee, Sitko Katherine A, Garge Riddhiman K, Wang Ziyu R, Wheelock Melinda K, Vandi Allyssa J, Powell Rachel L, Friedman Clayton E, McDermot Evan, Kishore Nishka, Roth Frederick P, Rubin Alan F, Yang Kai-Chun, Starita Lea M, Noble William S, Fowler Douglas M
Abstract excerpt
Genetic variants produce complex phenotypic effects that confound current assays and predictive models. We developed variant in situ sequencing (VIS-seq), a pooled, image-based method measuring variant effects on molecular and cellular phenotypes in diverse cell types. Applying VIS-seq to ∼3,000 LMNA and PTEN variants yielded high-dimensional morphological profiles capturing changes in protein abundance,...
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