ParSE-seq: A Calibrated Multiplexed Assay to Facilitate the Clinical Classification of Putative Splice-altering Variants
Matthew J. O’Neill, Tao Yang, Julie A. Laudeman, Maria E. Calandranis, M. Lorena Harvey, Joseph F. Solus, Dan M. Roden, Andrew Michael Glazer
This paper introduces ParSE-seq, a multiplexed assay to assess splice-altering variants, showing high correlation between experimental and computational predictions.
Nature Communications · Sep 27, 2024Peer-reviewedGenetic & Genomic Medicine