Clinical impact of splicing in neurodevelopmental disorders

Abstract

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.

Keywords

• Gene splicing
• Isoform
• SpliceAI
• Autism spectrum disorder
• Developmental delay
• Clinical exome sequencing