Variant Interpretation: Functional Assays to the Rescue.

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CADD: predicting the deleteriousness of variants throughout the human genome (2018, neutral): “Specialized scores derived from functionally testing large numbers of variants via multiplex assays (56,57) may also be integrated into CADD in the near future.”
A saturation mutagenesis approach to understanding PTEN lipid phosphatase activity and genotype-phenotypes relationships (2018, neutral): “To address these challenges for genes of clinical importance, one proposed approach is to prospectively measure the functional effects of all possible mutations, allowing these empirical data to be integrated into the clinical assessment of novel rare variants.(3,4) Historically, these types of func”
Structural and functional characterization of G protein–coupled receptors with deep mutational scanning (2019, background): “Recent advances in DNA synthesis, genome editing, and next-generation sequencing have enabled deep mutational scanning (DMS) approaches that functionally assay all possible missense mutants of a given protein (Fowler and Fields, 2014; Starita et al., 2017).”