Article

Mitochondrial Phenotypes Distinguish Pathogenic MFN2 Mutations by Pooled Functional Genomics Screen

2021-03-12

Abstract excerpt

Most human genetic variation is classified as VUS - variants of uncertain significance. While advances in genome editing have allowed innovation in pooled screening platforms, many screens deal with relatively simple readouts (viability, fluorescence) and cannot identify the complex cellular phenotypes that underlie most human diseases. In this paper, we present a generalizable functional genomics platform that c...

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Literature Corpus work: 9c98941f-bcf7-55bd-b97d-affe03228a60
DOI: 10.1101/2021.03.12.434746

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