Excited to have this out as a preprint!
It was a pleasure to work with @calhoujd.bsky.social and all the coauthors brought together by @varianteffect.bsky.social.
Suja Jagannathan
Excited to share our @varianteffect.bsky.social CVI workstream preprint! Herein, we discuss important considerations for integration of multiplex functional data to generate a single score set and how this is likely to impact variant classification now and in the future
arxiv.org/abs/2503.18810
arxiv.org
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 variant effect (MAVE...