Publication | Open Access

A Multiplexed Assay for Exon Recognition Reveals that an Unappreciated Fraction of Rare Genetic Variants Cause Large-Effect Splicing Disruptions

BioinformaticsGenetic DisorderGeneticsExon Recognition RevealsMolecular BiologyUnappreciated FractionMolecular GeneticsDisease Gene IdentificationGenomicsSplicing VariantMedicineFunctional GenomicsMultiplexed AssayVariant Interpretation