Clinical variant interpretation and biologically relevant reference transcripts

Clinical variant interpretation is highly dependent on the choice of reference transcript. Although the longest transcript has traditionally been chosen as the reference, APPRIS principal and MANE Select transcripts, biologically supported reference sequences, are now available. In this study, we sh...

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Detalles Bibliográficos
Autores principales: Pozo, Fernando, Rodriguez, José Manuel, Vázquez, Jesús, Tress, Michael L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9579139/
https://www.ncbi.nlm.nih.gov/pubmed/36257961
http://dx.doi.org/10.1038/s41525-022-00329-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9579139/
https://www.ncbi.nlm.nih.gov/pubmed/36257961
http://dx.doi.org/10.1038/s41525-022-00329-6

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