Clinical impact of splicing in neurodevelopmental disorders

被引：16
|
作者：
Sanders, Stephan J. [1 ,2 ]
Schwartz, Grace B. [1 ,2 ]
Farh, Kyle Kai-How [3 ]
机构：
[1] Univ Calif San Francisco, Dept Psychiat, San Francisco, CA 94158 USA
[2] Univ Calif San Francisco, UCSF Weill Inst Neurosci, San Francisco, CA 94158 USA
[3] Illumina Inc, Illumina Artificial Intelligence Lab, San Diego, CA USA
来源：
GENOME MEDICINE | 2020年 / 12卷 / 01期
关键词：
Gene splicing; Isoform; SpliceAI; Autism spectrum disorder; Developmental delay; Clinical exome sequencing; Cryptic splice site; Canonical splice site; Polypyrimidine tract; Antisense oligonucleotide;
D O I：
10.1186/s13073-020-00737-2
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
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.
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页数：5
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