Clinical impact of splicing in neurodevelopmental disorders

AbstractClinical 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.

Source: Genome Medicine - April 23, 2020 Category: Genetics & Stem Cells Source Type: research