Clinical impact of splicing in neurodevelopmental disorders

Genome Medicine

Grace B. Schwartz¹  Stephan J. Sanders¹  Kyle Kai-How Farh² 

[1]Department of Psychiatry and UCSF Weill Institute for Neurosciences, University of California, San Francisco

[2]Illumina Artificial Intelligence Laboratory, Illumina, Inc.

关键词: Gene splicing;    Isoform;    SpliceAI;    Autism spectrum disorder;    Developmental delay;    Clinical exome sequencing;   

DOI  :  10.1186/s13073-020-00737-2

来源: DOAJ

【 摘 要 】

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.

【 授权许可】

Unknown