TY  - JOUR
AU  - Coorens, Tim H H
AU  - Oh, Ji Won
AU  - Choi, Yujin Angelina
AU  - Lim, Nam Seop
AU  - Zhao, Boxun
AU  - Voshall, Adam
AU  - Abyzov, Alexej
AU  - Antonacci-Fulton, Lucinda
AU  - Aparicio, Samuel
AU  - Ardlie, Kristin G
AU  - Bell, Thomas J
AU  - Bennett, James T
AU  - Bernstein, Bradley E
AU  - Blanchard, Thomas G
AU  - Boyle, Alan P
AU  - Buenrostro, Jason D
AU  - Burns, Kathleen H
AU  - Chen, Fei
AU  - Chen, Rui
AU  - Choudhury, Sangita
AU  - Doddapaneni, Harsha V
AU  - Eichler, Evan E
AU  - Evrony, Gilad D
AU  - Faith, Melissa A
AU  - Fazzio, Thomas G
AU  - Fulton, Robert S
AU  - Garber, Manuel
AU  - Gehlenborg, Nils
AU  - Germer, Soren
AU  - Getz, Gad
AU  - Gibbs, Richard A
AU  - Hernandez, Raquel G
AU  - Jin, Fulai
AU  - Korbel, Jan
AU  - Landau, Dan A
AU  - Lawson, Heather A
AU  - Lennon, Niall J
AU  - Li, Heng
AU  - Li, Yan
AU  - Loh, Po-Ru
AU  - Marth, Gabor
AU  - McConnell, Michael J
AU  - Mills, Ryan E
AU  - Montgomery, Stephen B
AU  - Natarajan, Pradeep
AU  - Park, Peter J
AU  - Satija, Rahul
AU  - Sedlazeck, Fritz J
AU  - Shao, Diane D
AU  - Shen, Hui
AU  - Stergachis, Andrew B
AU  - Underhill, Hunter R
AU  - Urban, Alexander E
AU  - VonDran, Melissa W
AU  - Walsh, Christopher A
AU  - Wang, Ting
AU  - Wu, Tao P
AU  - Zong, Chenghang
AU  - Lee, Eunjung Alice
AU  - Vaccarino, Flora M
TI  - The Somatic Mosaicism across Human Tissues Network.
JO  - Nature
VL  - 643
IS  - 8070
SN  - 0028-0836
CY  - London [u.a.]
PB  - Nature Publ. Group
M1  - DKFZ-2025-01411
SP  - 47 - 59
PY  - 2025
AB  - From fertilization onwards, the cells of the human body acquire variations in their DNA sequence, known as somatic mutations. These postzygotic mutations arise from intrinsic errors in DNA replication and repair, as well as from exposure to mutagens. Somatic mutations have been implicated in some diseases, but a fundamental understanding of the frequency, type and patterns of mutations across healthy human tissues has been limited. This is primarily due to the small proportion of cells harbouring specific somatic variants within an individual, making them more challenging to detect than inherited variants. Here we describe the Somatic Mosaicism across Human Tissues Network, which aims to create a reference catalogue of somatic mutations and their clonal patterns across 19 different tissue sites from 150 non-diseased donors and develop new technologies and computational tools to detect somatic mutations and assess their phenotypic consequences, including clonal expansions. This strategy enables a comprehensive examination of the mutational landscape across the human body, and provides a comparison baseline for somatic mutation in diseases. This will lead to a deep understanding of somatic mutations and clonal expansions across the lifespan, as well as their roles in health, in ageing and, by comparison, in diseases.
KW  - Humans
KW  - Mosaicism
KW  - Mutation: genetics
KW  - Clone Cells: metabolism
KW  - Clone Cells: cytology
KW  - Organ Specificity: genetics
KW  - Phenotype
KW  - Female
KW  - Male
KW  - Aging: genetics
LB  - PUB:(DE-HGF)16
C6  - pmid:40604182
DO  - DOI:10.1038/s41586-025-09096-7
UR  - https://inrepo02.dkfz.de/record/302871
ER  -