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The mutational landscape of human somatic and germline cells

During the course of a lifetime normal human cells accumulate mutations. Here, using multiple samples from the same individuals we compared the mutational landscape in 29 anatomical structures from soma and the germline. Two ubiquitous mutational signatures, SBS1 and SBS5/40, accounted for the majority of acquired mutations in most cell types but their absolute and relative contributions varied substantially. SBS18, potentially reflecting oxidative damage, and several additional signatures attributed to exogenous and endogenous exposures contributed mutations to subsets of cell types. The mutation rate was lowest in spermatogonia, the stem cell from which sperm are generated and from which most genetic variation in the human population is thought to originate. This was due to low rates of ubiquitous mutation processes and may be partially attributable to a low cell division rate of basal spermatogonia. The results provide important insights into how mutational processes affect the soma and germline.

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Studies are experimental investigations of a particular phenomenon, e.g., case-control studies on a particular trait or cancer research projects reporting matching cancer normal genomes from patients.

Study ID Study Title Study Type
EGAS00001003952 Cancer Genomics

This table displays only public information pertaining to the files in the dataset. If you wish to access this dataset, please submit a request. If you already have access to these data files, please consult the download documentation.

ID File Type Size Located in
EGAF00004896831 cram 193.1 MB
EGAF00004896832 cram 219.7 MB
EGAF00004896833 cram 229.6 MB
EGAF00004896834 cram 178.6 MB
EGAF00004896835 cram 135.8 MB
EGAF00004896836 cram 143.5 MB
EGAF00004896837 cram 236.3 MB
EGAF00004896838 cram 229.0 MB
EGAF00004896839 cram 189.8 MB
EGAF00004896840 cram 167.0 MB
EGAF00004896841 cram 179.7 MB
EGAF00004896842 cram 158.8 MB
EGAF00004896843 cram 163.4 MB
EGAF00004896844 cram 151.3 MB
EGAF00004896845 cram 215.3 MB
EGAF00004896846 cram 195.9 MB
EGAF00004896847 cram 224.5 MB
EGAF00004896848 cram 233.1 MB
EGAF00004896849 cram 217.7 MB
EGAF00004896850 cram 230.7 MB
EGAF00004896851 cram 177.5 MB
EGAF00004896852 cram 186.3 MB
EGAF00004896853 cram 233.1 MB
EGAF00004896854 cram 231.0 MB
EGAF00004896855 cram 250.8 MB
EGAF00004896856 cram 197.0 MB
EGAF00004896857 cram 213.3 MB
EGAF00004896858 cram 190.9 MB
EGAF00004896859 cram 227.7 MB
EGAF00004896860 cram 165.0 MB
EGAF00004896861 cram 182.6 MB
EGAF00004896862 cram 162.3 MB
EGAF00004896863 cram 210.3 MB
EGAF00004896864 cram 187.9 MB
EGAF00004896865 cram 244.9 MB
EGAF00004896866 cram 157.6 MB
EGAF00004896867 cram 167.8 MB
EGAF00004896868 cram 185.6 MB
EGAF00004896869 cram 224.7 MB
EGAF00004896870 cram 254.1 MB
EGAF00004896871 cram 266.0 MB
EGAF00004896872 cram 216.0 MB
EGAF00004896873 cram 202.2 MB
EGAF00004896874 cram 156.6 MB
EGAF00004896875 cram 160.5 MB
EGAF00004896876 cram 195.3 MB
EGAF00004896877 cram 188.5 MB
EGAF00004896878 cram 200.9 MB
EGAF00004896879 cram 236.2 MB
EGAF00004896880 cram 207.7 MB
EGAF00004896881 cram 209.4 MB
EGAF00004896882 cram 214.9 MB
EGAF00004896883 cram 217.3 MB
EGAF00004896884 cram 196.9 MB
EGAF00004896885 cram 195.7 MB
EGAF00004896886 cram 188.2 MB
EGAF00004896887 cram 163.6 MB
EGAF00004896888 cram 196.9 MB
EGAF00004896889 cram 211.3 MB
EGAF00004896890 cram 187.7 MB
EGAF00004896891 cram 244.4 MB
EGAF00004896892 cram 193.1 MB
EGAF00004896893 cram 294.2 MB
EGAF00004896894 cram 185.5 MB
EGAF00004896895 cram 204.4 MB
EGAF00004896896 cram 192.7 MB
EGAF00004896897 cram 177.7 MB
EGAF00004896898 cram 264.3 MB
EGAF00004896899 cram 198.7 MB
EGAF00004896900 cram 174.7 MB
EGAF00004896901 cram 185.0 MB
EGAF00004896902 cram 189.4 MB
EGAF00004896903 cram 188.6 MB
EGAF00004896904 cram 256.4 MB
EGAF00004896905 cram 180.5 MB
EGAF00004896906 cram 203.7 MB
EGAF00004896907 cram 195.0 MB
EGAF00004896908 cram 200.1 MB
EGAF00004896909 cram 201.7 MB
EGAF00004896910 cram 2.1 MB
EGAF00004896911 cram 213.5 MB
EGAF00004896912 cram 189.3 MB
EGAF00004896913 cram 193.0 MB
EGAF00004896914 cram 233.7 MB
EGAF00004896915 cram 177.6 MB
85 Files (16.9 GB)