Journal
GENOME MEDICINE
Volume 12, Issue 1, Pages -Publisher
BMC
DOI: 10.1186/s13073-020-00737-2
Keywords
Gene splicing; Isoform; SpliceAI; Autism spectrum disorder; Developmental delay; Clinical exome sequencing; Cryptic splice site; Canonical splice site; Polypyrimidine tract; Antisense oligonucleotide
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Funding
- Simons Foundation (SFARI) [647371, 574598]
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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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