Clinical impact of splicing in neurodevelopmental disorders
Stephan J. Sanders, Grace B. Schwartz, Kyle Kai-How Farh
Genome Medicine · 2020
doi:10.1186/s13073-020-00737-2 (opens in a new tab)
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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.
Abstract licence: CC BY-NC-ND
References12
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Genetic effects on gene expression across human tissues · 2017
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