We developed a CRISPR-based functional assay for genetic sequence variants found in human disease, probing their effects on cell proliferation, survival, motility and any physiological or pathological process measurable by fluorescence-activated cell sorting (FACS). The assay accurately assessed variant pathogenicity, drug responsiveness or resistance and mechanistic role in disease, in vitro and in vivo.
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This is a summary of: Niu, Y. et al. Multiparametric and accurate functional analysis of genetic sequence variants using CRISPR-Select. Nat. Genet. https://doi.org/10.1038/s41588-022-01224-7 (2022).
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A versatile functional assay for genetic variants in human disease. Nat Genet 54, 1778–1779 (2022). https://doi.org/10.1038/s41588-022-01226-5
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DOI: https://doi.org/10.1038/s41588-022-01226-5
