Spectrum of splicing variants in disease genes and the ability of RNA analysis to reduce uncertainty in clinical interpretation

The complexities of gene expression pose challenges for the clinical interpretation of splicing variants. To better understand splicing variants and their contribution to hereditary disease, we evaluated their prevalence, clinical classifications, and associations with diseases, inheritance, and functional characteristics in a 689,321-person clinical cohort and two large public datasets. In the clinical cohort, splicing variants represented 13% of all variants classified as pathogenic (P), likely pathogenic (LP), or variants of uncertain significance (VUSs).

Source: The American Journal of Human Genetics - March 19, 2021 Category: Genetics & Stem Cells Authors: Rebecca Truty, Karen Ouyang, Susan Rojahn, Sarah Garcia, Alexandre Colavin, Barbara Hamlington, Mary Freivogel, Robert L. Nussbaum, Keith Nykamp, Swaroop Aradhya Tags: Article Source Type: research