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

Abstract 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-gen...

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Bibliographic Details
Main Authors: Pablo Bousquets-Muñoz, Ander Díaz-Navarro, Ferran Nadeu, Ana Sánchez-Pitiot, Sara López-Tamargo, Shimin Shuai, Milagros Balbín, Jose M. C. Tubio, Sílvia Beà, Jose I. Martin-Subero, Ana Gutiérrez-Fernández, Lincoln D. Stein, Elías Campo, Xose S. Puente
Format: Article
Language:English
Published: Nature Portfolio 2022-03-01
Series:npj Genomic Medicine
Online Access:https://doi.org/10.1038/s41525-022-00292-2