The mutational landscape of human somatic and germline cells

Dataset ID Technology Samples
EGAD00001006641 HiSeq X Ten,Illumina NovaSeq 6000 667

Dataset Description

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.

Data Use Conditions


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Label Code Version Modifier
obsolete general research use and clinical care DUO:0000005 2017-10-16
obsolete research use only DUO:0000014 2017-10-16
publication required DUO:0000019 2017-10-16
user specific restriction DUO:0000026 2017-10-16
institution specific restriction DUO:0000028 2017-10-16