Article
Genetic control of mRNA splicing as a potential mechanism for incomplete penetrance of rare coding variants.
Genetics - 9 Aug 2023
Einson Jonah, Glinos Dafni, Boerwinkle Eric, Castaldi Peter, Darbar Dawood, de Andrade Mariza, Ellinor Patrick, Fornage Myriam, Gabriel Stacey, Germer Soren, Gibbs Richard, Hersh Craig P, Johnsen Jill, Kaplan Robert, Konkle Barbara A, Kooperberg Charles, Nassir Rami, Loos Ruth J F, Meyers Deborah A, Mitchell Braxton D, Psaty Bruce, Vasan Ramachandran S, Rich Stephen S, Rienstra Michael, Rotter Jerome I, Saferali Aabida, Shoemaker Moore Benjamin, Silverman Edwin, Smith Albert Vernon, Mohammadi Pejman, Castel Stephane E, Iossifov Ivan, Lappalainen Tuuli
Abstract excerpt
Exonic variants present some of the strongest links between genotype and phenotype. However, these variants can have significant inter-individual pathogenicity differences, known as variable penetrance. In this study, we propose a model where genetically controlled mRNA splicing modulates the pathogenicity of exonic variants. By first cataloging exonic inclusion from RNA-sequencing data in GTEx V8, we find that...
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