ABSTRACT

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

Cormier MJ, Pedersen BS, Bayrak-Toydemir P, Quinlan AR.  BMC Bioinformatics. 2022 Nov 14;23(1):482. doi: 10.1186/s12859-022-05041-x. PMID: 36376793.