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.OT2024
GREGoR: Accelerating Genomics for Rare Diseases
Moez Dawood, Ben Heavner, Marsha M. Wheeler +31
Rare diseases are collectively common, affecting approximately one in twenty individuals worldwide. In recent years, rapid progress has been made in rare disease diagnostics due to…