Genetic & Genomic MedicineNature CommunicationsPeer-reviewed
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…·Andrew Michael Glazer
This paper introduces ParSE-seq, a multiplexed assay to assess splice-altering variants, showing high correlation between experimental and computational predictions.
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