PanCancer analysis of somatic mutations in repetitive regions reveals recurrent mutations in snRNA U2

Current somatic mutation callers are biased against repetitive regions, preventing the identification of potential driver alterations in these loci. We developed a mutation caller for repetitive regions, and applied it to study repetitive non protein-coding genes in more than 2200 whole-genome cases...

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Detalles Bibliográficos
Autores principales: Bousquets-Muñoz, Pablo, Díaz-Navarro, Ander, Nadeu, Ferran, Sánchez-Pitiot, Ana, López-Tamargo, Sara, Shuai, Shimin, Balbín, Milagros, Tubio, Jose M. C., Beà, Sílvia, Martin-Subero, Jose I., Gutiérrez-Fernández, Ana, Stein, Lincoln D., Campo, Elías, Puente, Xose S.
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/PMC8921233/
https://www.ncbi.nlm.nih.gov/pubmed/35288589
http://dx.doi.org/10.1038/s41525-022-00292-2

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