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

被引：0
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作者：
Michael J. Cormier
Brent S. Pedersen
Pinar Bayrak-Toydemir
Aaron R. Quinlan
机构：
[1] University of Utah,Department of Human Genetics
[2] University of Utah,Utah Center for Genetic Discovery
[3] University of Utah,Department of Pathology
[4] University of Utah,Department of Biomedical Informatics
来源：
BMC Bioinformatics | / 23卷
关键词：
Genomic medicine; Rare disease; Genomics; Splicing; Alternative splicing; Noncanonical cryptic splicing; Purifying selection; Genetic constraint; Machine learning; Pathogenic interpretation;
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