Combining genetic constraint with predictions of alternative splicing to prioritize deleterious splicing in rare disease studies

Michael J. Cormier, Brent S. Pedersen, Pinar Bayrak-Toydemir, Aaron R. Quinlan. Combining genetic constraint with predictions of alternative splicing to prioritize deleterious splicing in rare disease studies. BMC Bioinformatics, 23(1):482, 2022. [doi]

Abstract

Abstract is missing.