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]

Authors

Michael J. Cormier

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Brent S. Pedersen

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Pinar Bayrak-Toydemir

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Aaron R. Quinlan

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