This analysis of cancer sequencing data identifies a reduced somatic mutation rate in exons and shows that this phenomenon is due to higher mismatch-repair activity in exons as compared to introns. These findings have implications for the understanding of mutational and DNA repair processes and for studying the evolution of both tumors and species.
%0 Journal Article
%1 frigola2017reduced
%A Frigola, Joan
%A Sabarinathan, Radhakrishnan
%A Mularoni, Loris
%A Muiños, Ferran
%A Gonzalez-Perez, Abel
%A López-Bigas, Núria
%D 2017
%J Nature Genetics
%K mutation_rate mutation_spectrum
%N 12
%P 1684--1692
%R 10.1038/ng.3991
%T Reduced mutation rate in exons due to differential mismatch repair
%U https://doi.org/10.1038/ng.3991
%V 49
%X This analysis of cancer sequencing data identifies a reduced somatic mutation rate in exons and shows that this phenomenon is due to higher mismatch-repair activity in exons as compared to introns. These findings have implications for the understanding of mutational and DNA repair processes and for studying the evolution of both tumors and species.
@article{frigola2017reduced,
abstract = {This analysis of cancer sequencing data identifies a reduced somatic mutation rate in exons and shows that this phenomenon is due to higher mismatch-repair activity in exons as compared to introns. These findings have implications for the understanding of mutational and DNA repair processes and for studying the evolution of both tumors and species.},
added-at = {2020-07-03T19:36:52.000+0200},
author = {Frigola, Joan and Sabarinathan, Radhakrishnan and Mularoni, Loris and Muiños, Ferran and Gonzalez-Perez, Abel and López-Bigas, Núria},
biburl = {https://www.bibsonomy.org/bibtex/2e149ef83e08bcc6c600187e79e7d6d65/peter.ralph},
doi = {10.1038/ng.3991},
interhash = {c46c24fe03fb49c3ceaf012d1d10df4d},
intrahash = {e149ef83e08bcc6c600187e79e7d6d65},
issn = {15461718},
journal = {Nature Genetics},
keywords = {mutation_rate mutation_spectrum},
number = 12,
pages = {1684--1692},
refid = {Frigola2017},
timestamp = {2020-07-03T19:36:52.000+0200},
title = {Reduced mutation rate in exons due to differential mismatch repair},
url = {https://doi.org/10.1038/ng.3991},
volume = 49,
year = 2017
}