Article
Pervasive mislocalization of pathogenic coding variants underlying human disorders.
Cell - 14 Nov 2024
Lacoste Jessica, Haghighi Marzieh, Haider Shahan, Reno Chloe, Lin Zhen-Yuan, Segal Dmitri, Qian Wesley Wei, Xiong Xueting, Teelucksingh Tanisha, Miglietta Esteban, Shafqat-Abbasi Hamdah, Ryder Pearl V, Senft Rebecca, Cimini Beth A, Murray Ryan R, Nyirakanani Chantal, Hao Tong, McClain Gregory G, Roth Frederick P, Calderwood Michael A, Hill David E, Vidal Marc, Yi S Stephen, Sahni Nidhi, Peng Jian, Gingras Anne-Claude, Singh Shantanu, Carpenter Anne E, Taipale Mikko
Abstract excerpt
Widespread sequencing has yielded thousands of missense variants predicted or confirmed as disease causing. This creates a new bottleneck: determining the functional impact of each variant-typically a painstaking, customized process undertaken one or a few genes and variants at a time. Here, we established a high-throughput imaging platform to assay the impact of coding variation on protein localization,...
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