Clinical impact of splicing in neurodevelopmental disorders.

Sanders, Stephan J; Schwartz, Grace B; Farh, Kyle Kai-How

Sanders, Stephan J; Schwartz, Grace B; Farh, Kyle Kai-How.

Afiliación

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.

Genome Med ; 12(1): 36, 2020 04 24.

Article en En | MEDLINE | ID: mdl-32331533

ABSTRACT

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.

Asunto(s)

Trastornos del Neurodesarrollo/genética; Empalme del ARN; Humanos

Palabras clave

Antisense oligonucleotide; Autism spectrum disorder; Canonical splice site; Clinical exome sequencing; Cryptic splice site; Developmental delay; Gene splicing; Isoform; Polypyrimidine tract; SpliceAI

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Empalme del ARN / Trastornos del Neurodesarrollo Límite: Humans Idioma: En Revista: Genome Med Año: 2020 Tipo del documento: Article País de afiliación: Estados Unidos

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