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Computational prediction of human deep intronic variation

BACKGROUND: The adoption of whole-genome sequencing in genetic screens has facilitated the detection of genetic variation in the intronic regions of genes, far from annotated splice sites. However, selecting an appropriate computational tool to discriminate functionally relevant genetic variants fro...

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Detalles Bibliográficos
Autores principales:	Barbosa, Pedro, Savisaar, Rosina, Carmo-Fonseca, Maria, Fonseca, Alcides
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2023
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10599398/ https://www.ncbi.nlm.nih.gov/pubmed/37878682 http://dx.doi.org/10.1093/gigascience/giad085

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