Clinical impact of splicing in neurodevelopmental disorders
Stephan Sanders, Grace Schwartz, Kyle Kai‐How Farh
Abstract
Clinical exome sequencing is frequently used to identify gene-disrupting variants in individuals with neurodevelopmental disorders. While splice-disrupting variants are known to contribute to these disorders, clinical interpretation of cryptic splice variants outside of the canonical splice site has been challenging. Here, we discuss papers that improve such detection.
Topics & Concepts
Human geneticsspliceRNA splicingExome sequencingComputational biologyGeneticsGeneBiologyAlternative splicingSplice site mutationBioinformaticsMedicineExomePhenotypeExonRNAGenomics and Rare DiseasesGenetics and Neurodevelopmental DisordersRNA modifications and cancer