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Annotating high-impact 5′untranslated region variants with the UTRannotator

SUMMARY: Current tools to annotate the predicted effect of genetic variants are heavily biased towards protein-coding sequence. Variants outside of these regions may have a large impact on protein expression and/or structure and can lead to disease, but this effect can be challenging to predict. Con...

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Detalles Bibliográficos
Autores principales: Zhang, Xiaolei, Wakeling, Matthew, Ware, James, Whiffin, Nicola
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8150139/
https://www.ncbi.nlm.nih.gov/pubmed/32926138
http://dx.doi.org/10.1093/bioinformatics/btaa783