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Splicing defects in rare diseases: transcriptomics and machine learning strategies towards genetic diagnosis

Genomic variants affecting pre-messenger RNA splicing and its regulation are known to underlie many rare genetic diseases. However, common workflows for genetic diagnosis and clinical variant interpretation frequently overlook splice-altering variants. To better serve patient populations and advance...

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Detalles Bibliográficos
Autores principales:	Wang, Robert, Helbig, Ingo, Edmondson, Andrew C, Lin, Lan, Xing, Yi
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2023
Materias:	Review
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10516351/ https://www.ncbi.nlm.nih.gov/pubmed/37580177 http://dx.doi.org/10.1093/bib/bbad284

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