High-throughput functional mapping of variants in an arrhythmia gene, KCNE1, reveals novel biology
Ayesha Muhammad, Maria E. Calandranis, Bian Li, Tao Yang, Daniel J. Blackwell, M. Lorena Harvey, Jeremy E. Smith, Ashli E. Chew, John A. Capra, Kenneth A. Matreyek, Douglas M. Fowler, Dan M. Roden, Andrew Michael Glazer
This study maps the functional effects of thousands of KCNE1 variants using high-throughput methods, identifying loss-of-function and loss-of-surface expression variants and showing concordance with electrophysiological and computational data.
bioRxiv · Apr 28, 2023 · PreprintGenomics