@article {322018,
	title = {Extreme differences between human germline and tumor mutation densities are driven by ancestral human-specific deviations},
	journal = {Nature Communications},
	volume = {11},
	year = {2020},
	month = {2020/05/19},
	pages = {2512},
	abstract = {<p>Mutations do not accumulate uniformly across the genome. Human germline and tumor mutation density correlate poorly, and each is associated with different genomic features. Here, we use non-human great ape (NHGA) germlines to determine human germline- and tumor-specific deviations from an ancestral-like great ape genome-wide mutational landscape. Strikingly, we find that the distribution of mutation densities in tumors presents a stronger correlation with NHGA than with human germlines. This effect is driven by human-specific differences in the distribution of mutations at non-CpG sites. We propose that ancestral human demographic events, together with the human-specific mutation slowdown, disrupted the human genome-wide distribution of mutation densities. Tumors partially recover this distribution by accumulating preneoplastic-like somatic mutations. Our results highlight the potential utility of using NHGA population data, rather than human controls, to establish the expected mutational background of healthy somatic cells.</p>
},
	isbn = {2041-1723},
	doi = {https://doi.org/10.1038/s41467-020-16296-4},
	url = {https://www.nature.com/articles/s41467-020-16296-4$\#$citeas},
	author = {Heredia-Genestar, Jos{\'e} Mar{\'\i}a and Marques-Bonet, Tomas and Juan, David and Navarro, Arcadi}
}
