The Somatic Mosaicism across Human Tissues Network

Coorens, Tim H. H.; Oh, Ji Won; Choi, Yujin Angelina; Lim, Nam Seop; Zhao, Boxun; Voshall, Adam; Abyzov, Alexej; Antonacci-Fulton, Lucinda; Aparicio, Samuel; Ardlie, Kristin G.; Bell, Thomas J.; Bennett, James T.; Bernstein, Bradley E.; Blanchard, Thomas G.; Boyle, Alan P.; Buenrostro, Jason D.; Burns, Kathleen H.; Chen, Fei; Chen, Rui; Choudhury, Sangita; Doddapaneni, Harsha V.; Eichler, Evan E.; Evrony, Gilad D.; Faith, Melissa A.; Fazzio, Thomas G.; Fulton, Robert S.; Garber, Manuel; Gehlenborg, Nils; Germer, Soren; Getz, Gad; Gibbs, Richard A.; Hernandez, Raquel G.; Jin, Fulai; Korbel, Jan O.; Landau, Dan A.; Lawson, Heather A.; Lennon, Niall J.; Li, Heng; Li, Yan; Loh, Po-Ru; Marth, Gabor; McConnell, Michael J.; Mills, Ryan E.; Montgomery, Stephen B.; Natarajan, Pradeep; Park, Peter J.; Satija, Rahul; Sedlazeck, Fritz J.; Shao, Diane D.; Shen, Hui; Stergachis, Andrew B.; Underhill, Hunter R.; Urban, Alexander E.; VonDran, Melissa W.; Walsh, Christopher A.; Wang, Ting; Wu, Tao P.; Zong, Chenghang; Lee, Eunjung Alice; Vaccarino, Flora M.

The Somatic Mosaicism across Human Tissues Network

Tim H. H. Coorens (), Ji Won Oh (), Yujin Angelina Choi, Nam Seop Lim, Boxun Zhao, Adam Voshall, Alexej Abyzov, Lucinda Antonacci-Fulton, Samuel Aparicio, Kristin G. Ardlie, Thomas J. Bell, James T. Bennett, Bradley E. Bernstein, Thomas G. Blanchard, Alan P. Boyle, Jason D. Buenrostro, Kathleen H. Burns, Fei Chen, Rui Chen, Sangita Choudhury, Harsha V. Doddapaneni, Evan E. Eichler, Gilad D. Evrony, Melissa A. Faith, Thomas G. Fazzio, Robert S. Fulton, Manuel Garber, Nils Gehlenborg, Soren Germer, Gad Getz, Richard A. Gibbs, Raquel G. Hernandez, Fulai Jin, Jan O. Korbel, Dan A. Landau, Heather A. Lawson, Niall J. Lennon, Heng Li, Yan Li, Po-Ru Loh, Gabor Marth, Michael J. McConnell, Ryan E. Mills, Stephen B. Montgomery, Pradeep Natarajan, Peter J. Park, Rahul Satija, Fritz J. Sedlazeck, Diane D. Shao, Hui Shen, Andrew B. Stergachis, Hunter R. Underhill, Alexander E. Urban, Melissa W. VonDran, Christopher A. Walsh, Ting Wang, Tao P. Wu, Chenghang Zong, Eunjung Alice Lee () and Flora M. Vaccarino ()
Additional contact information
Tim H. H. Coorens: Broad Institute of MIT and Harvard
Ji Won Oh: Yonsei University College of Medicine
Yujin Angelina Choi: Yonsei University College of Medicine
Nam Seop Lim: Yonsei University College of Medicine
Boxun Zhao: Broad Institute of MIT and Harvard
Adam Voshall: Broad Institute of MIT and Harvard
Alexej Abyzov: Mayo Clinic
Lucinda Antonacci-Fulton: Washington University School of Medicine
Samuel Aparicio: British Columbia Cancer Research Centre
Kristin G. Ardlie: Broad Institute of MIT and Harvard
Thomas J. Bell: National Disease Research Interchange
James T. Bennett: Seattle Children’s Research Institute
Bradley E. Bernstein: Broad Institute of MIT and Harvard
Thomas G. Blanchard: University of Maryland School of Medicine
Alan P. Boyle: University of Michigan
Jason D. Buenrostro: Broad Institute of MIT and Harvard
Kathleen H. Burns: Broad Institute of MIT and Harvard
Fei Chen: Broad Institute of MIT and Harvard
Rui Chen: Baylor College of Medicine
Sangita Choudhury: Broad Institute of MIT and Harvard
Harsha V. Doddapaneni: Baylor College of Medicine
Evan E. Eichler: University of Washington School of Medicine
Gilad D. Evrony: New York University Grossman School of Medicine
Melissa A. Faith: Johns Hopkins University School of Medicine
Thomas G. Fazzio: University of Massachusetts Chan Medical School
Robert S. Fulton: Washington University
Manuel Garber: University of Massachusetts Chan Medical School
Nils Gehlenborg: Harvard Medical School
Soren Germer: New York Genome Center
Gad Getz: Broad Institute of MIT and Harvard
Richard A. Gibbs: Baylor College of Medicine
Raquel G. Hernandez: Johns Hopkins University School of Medicine
Fulai Jin: Case Western Reserve University
Jan O. Korbel: Genome Biology Unit
Dan A. Landau: New York Genome Center
Heather A. Lawson: Washington University School of Medicine
Niall J. Lennon: Broad Institute of MIT and Harvard
Heng Li: Harvard Medical School
Yan Li: Case Western Reserve University
Po-Ru Loh: Broad Institute of MIT and Harvard
Gabor Marth: University of Utah
Michael J. McConnell: Lieber Institute for Brain Development
Ryan E. Mills: University of Michigan
Stephen B. Montgomery: Stanford University
Pradeep Natarajan: Broad Institute of MIT and Harvard
Peter J. Park: Harvard Medical School
Rahul Satija: New York Genome Center
Fritz J. Sedlazeck: Baylor College of Medicine
Diane D. Shao: Boston Children’s Hospital
Hui Shen: Van Andel Institute
Andrew B. Stergachis: University of Washington School of Medicine
Hunter R. Underhill: University of Utah
Alexander E. Urban: Stanford University
Melissa W. VonDran: National Disease Research Interchange
Christopher A. Walsh: Broad Institute of MIT and Harvard
Ting Wang: Washington University School of Medicine
Tao P. Wu: Baylor College of Medicine
Chenghang Zong: Baylor College of Medicine
Eunjung Alice Lee: Broad Institute of MIT and Harvard
Flora M. Vaccarino: Yale University

Nature, 2025, vol. 643, issue 8070, 47-59

Abstract: Abstract 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.

Date: 2025
References: Add references at CitEc
Citations:

Downloads: (external link)
https://www.nature.com/articles/s41586-025-09096-7 Abstract (text/html)
Access to the full text of the articles in this series is restricted.

Related works:
This item may be available elsewhere in EconPapers: Search for items with the same title.

Export reference: BibTeX RIS (EndNote, ProCite, RefMan) HTML/Text

Persistent link: https://EconPapers.repec.org/RePEc:nat:nature:v:643:y:2025:i:8070:d:10.1038_s41586-025-09096-7

Ordering information: This journal article can be ordered from
https://www.nature.com/

DOI: 10.1038/s41586-025-09096-7

Access Statistics for this article

Nature is currently edited by Magdalena Skipper

More articles in Nature from Nature
Bibliographic data for series maintained by Sonal Shukla () and Springer Nature Abstracting and Indexing ().