Clinical impact of splicing in neurodevelopmental disorders.

Autor: Sanders SJ; Department of Psychiatry and UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, 94158, USA. stephan.sanders@ucsf.edu., Schwartz GB; Department of Psychiatry and UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, 94158, USA., Farh KK; Illumina Artificial Intelligence Laboratory, Illumina, Inc., San Diego, CA, USA.
Jazyk: angličtina
Zdroj: Genome medicine [Genome Med] 2020 Apr 24; Vol. 12 (1), pp. 36. Date of Electronic Publication: 2020 Apr 24.
DOI: 10.1186/s13073-020-00737-2
Abstrakt: 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.
Databáze: MEDLINE
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