Article

Image-based, pooled phenotyping reveals multidimensional, disease-specific variant effects

2025-07-05

Abstract excerpt

Genetic variants often produce complex phenotypic effects that confound current assays and predictive models. We developed Variant in situ sequencing (VIS-seq), a pooled, image-based method that measures 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 that captured variant-driven changes in...

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Literature Corpus work: 04bbdaaa-0276-573c-b622-7a4800b4f788
DOI: 10.1101/2025.07.03.663081

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