Linking genetic variants to cellular function and disease

Despite the immense progress the identification of disease-associated genetic variants, our understanding of the functional and pathogenic significance of most mutations is still limited. Current technologies screen variants on a large scale, but they lack quantitative measurements and validation, rendering them impractical as universally applicable tools. In Nature Genetics, Niu et al. report CRISPR-Select, a multi-parametric functional CRISPR screen that quantitatively links distinct variants of uncertain significance (VUS) to (pathogenic) phenotypes.

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