Warm_Autopsy_Single_Cell_X10

Study of cell lineage and embryogenesis using biopsy samples from sites across the whole body (post mortem). Sample donors are recruited sensitively through the Phoenix study and consent to samples being taken after their death for both the Phoenix study and this WTSI study.

Type: Cancer Genomics
Archiver: European Genome-Phenome Archive (EGA)

2 Datasets 3 Publications

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID	Description	Technology	Samples
EGAD00001003240	Study of cell lineage and embryogenesis using biopsy samples from sites across the whole body (post mortem). Sample donors are recruited sensitively through the Phoenix study and consent to samples being taken after their death for both the Phoenix study and this WTSI study.	HiSeq X Ten	33
EGAD00001006641	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.	HiSeq X Ten Illumina NovaSeq 6000	1

Publications	Citations
Development, maturation, and maintenance of human prostate inferred from somatic mutations. Grossmann S, Hooks Y, Wilson L, Moore L, O'Neill L, Martincorena I, Voet T, Stratton MR, Heer R, Campbell PJ. Cell Stem Cell 28: 2021 1262-1274.e5	16
APOBEC mutagenesis is a common process in normal human small intestine. Wang Y, Robinson PS, Coorens THH, Moore L, Lee-Six H, Noorani A, Sanders MA, Jung H, Katainen R, Heuschkel R, Brunton-Sim R, Weston R, Read D, Nobbs B, Fitzgerald RC, Saeb-Parsy K, Martincorena I, Campbell PJ, Rushbrook S, Zilbauer M, Buczacki SJA, Stratton MR. Nat Genet 55: 2023 246-254	7
The ALT pathway generates telomere fusions that can be detected in the blood of cancer patients. Muyas F, Rodriguez MJG, Cascão R, Afonso A, Sauer CM, Faria CC, Cortés-Ciriano I, Flores I. Nat Commun 15: 2024 82	0