2 papers
q-bio.GN2025
Combining multiplexed functional data to improve variant classification
Atlas of Variant Effects Alliance, :, Jeffrey D. Calhoun +10
With the surge in the number of variants of uncertain significance (VUS) reported in ClinVar in recent years, there is an imperative to resolve VUS at scale. Multiplexed assays of…
q-bio.GN2025
Curated loci prime editing (cliPE) for accessible multiplexed assays of variant effect (MAVEs)
Carina G Biar, Nicholas Bodkin, Gemma L Carvill +1
Multiplexed assays of variant effect (MAVEs) perform simultaneous characterization of many variants. Prime editing has been recently adopted for introducing many variants in their…