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In silico identification of pseudo-exon activation events in personal genome and transcriptome data

Causative mutations for human genetic disorders have mainly been identified in exonic regions that code for amino acid sequences. Recently, however, it has been reported that mutations in deep intronic regions can also cause certain human genetic disorders by creating novel splice sites, leading to...

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Detalles Bibliográficos
Autores principales: Sakaguchi, Narumi, Suyama, Mikita
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Taylor & Francis 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7951959/
https://www.ncbi.nlm.nih.gov/pubmed/32865117
http://dx.doi.org/10.1080/15476286.2020.1809195