神经发育障碍中剪接的临床影响。
Clinical impact of splicing in neurodevelopmental disorders.
机构信息
Department of Psychiatry and UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, 94158, USA.
Illumina Artificial Intelligence Laboratory, Illumina, Inc., San Diego, CA, USA.
出版信息
Genome Med. 2020 Apr 24;12(1):36. doi: 10.1186/s13073-020-00737-2.
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.
临床外显子组测序常用于鉴定神经发育障碍患者的基因破坏变异。尽管剪接破坏变异已知会导致这些疾病，但对经典剪接位点以外的隐匿性剪接变异的临床解释一直具有挑战性。在这里，我们讨论了一些改进这种检测的论文。
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