ReviewNature2025
The Somatic Mosaicism across Human Tissues Network.
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In one paragraph
Review in Nature, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
0numbers the graph read from it
0cells of the map it votes in
25citing papers in PubMed
–field-weighted citation impact
What it found
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Who cites it
25 citing papers in PubMed.
- Human genetics across levels of biological organization.Nature reviews. Genetics · 2026Review
- Personalized reference genome-based pipeline reveals comprehensive haplotype-resolved views of cancer genomes.bioRxiv : the preprint server for biology · 2026Article
- Origins and timing of somatic variants in the brain.Current opinion in genetics & development · 2026Review
- Short-Read Sequencing Benchmarking with Donor-Specific Assemblies.bioRxiv : the preprint server for biology · 2026Article
- Patterns and drivers of 43,617 mosaic chromosomal alterations in blood.Nature genetics · 2026Article
- GATA4 loss promotes mutantbioRxiv : the preprint server for biology · 2026Article
- Accelerating discovery of cancer causes for prevention in the era of rising early-onset cancers.Cell · 2026Review
- Long-read MitoScope reveals tissue-resolved somatic mitochondrial variation and landscape of nuclear-embedded mitochondrial sequences.bioRxiv : the preprint server for biology · 2026Article
- Somatic mutations and clonal evolution in normal tissues and cancer development.Experimental & molecular medicine · 2026Review
- Epithelial-to-mesenchymal transition as a central driver of tumor cell plasticity.Nature cancer · 2026Review
- cuteHap: Haplotype-Aware Structural Variant Detection in Phased Long-Read Sequencing Data.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Comprehensive detection of genetic and epigenetic alterations in cancer using long reads with TumorLens.medRxiv : the preprint server for health sciences · 2026Article
- Morphogen Gradients as Drivers of Mosaicism During Early Human Development.BioEssays : news and reviews in molecular, cellular and developmental biology · 2026Review
- Genetic regulation across germline and somatic variation on the Y chromosome contributes to type 2 diabetes.Nature medicine · 2026Article
- Donor-specific assemblies enhance somatic structural variant detection in complex genomic regions.bioRxiv : the preprint server for biology · 2026Article
- Scalable and comprehensive mosaic variant calling using DRAGEN.medRxiv : the preprint server for health sciences · 2026Article
- SomaMutDB 2.0: A comprehensive database for exploring somatic mutations and their functional impact in normal human tissues.Nucleic acids research · 2026Article
- Single-Cell Genomics and Somatic Variation in Circulating and Cardiac Resident Cells.Circulation research · 2026Review
- Psychologists' Novel Leadership Roles in Traditionally Medically-Led Organizations: Opportunities for Professional Enrichment and Growth Throughout Career Stages.Journal of clinical psychology in medical settings · 2025Review
- Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
61 authors.
Tim H H Coorens *Broad Institute of MIT and Harvard, Cambridge, MA, USA. tcoorens@broadinstitute.org.ORCID 0000-0002-5826-3554
Ji Won Oh *Department of Anatomy, Yonsei University College of Medicine, Seoul, Korea. g1@yuhs.ac.ORCID 0000-0001-5742-5120
Yujin Angelina ChoiDepartment of Anatomy, Yonsei University College of Medicine, Seoul, Korea.ORCID 0000-0002-3681-8117
Nam Seop LimDepartment of Anatomy, Yonsei University College of Medicine, Seoul, Korea.ORCID 0009-0008-9787-8499
Boxun ZhaoBroad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID 0000-0003-2337-5756
Adam VoshallBroad Institute of MIT and Harvard, Cambridge, MA, USA.
Alexej AbyzovDepartment of Quantitative Health Sciences, Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.ORCID 0000-0001-5405-6729
Lucinda Antonacci-FultonMcDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA.
Samuel AparicioDepartment of Molecular Oncology, British Columbia Cancer Research Centre, Vancouver, British Columbia, Canada.
Kristin G ArdlieBroad Institute of MIT and Harvard, Cambridge, MA, USA.
Thomas J BellNational Disease Research Interchange, Philadelphia, PA, USA.
James T BennettCenter for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA, USA.ORCID 0000-0003-2843-5594
Bradley E BernsteinBroad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID 0000-0002-5726-6278
Thomas G BlanchardDepartment of Pediatrics, University of Maryland School of Medicine, Baltimore, MD, USA.
Alan P BoyleDepartment of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, USA.ORCID 0000-0002-2081-1105
Jason D BuenrostroBroad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID 0000-0001-9958-3987
Kathleen H BurnsBroad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID 0000-0003-1620-3761
Fei ChenBroad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID 0000-0003-2308-3649
Rui ChenHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.ORCID 0000-0002-4387-9735
Sangita ChoudhuryBroad Institute of MIT and Harvard, Cambridge, MA, USA.
Harsha V DoddapaneniHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.ORCID 0000-0002-2433-633X
Evan E EichlerDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.ORCID 0000-0002-8246-4014
Gilad D EvronyCenter for Human Genetics and Genomics, New York University Grossman School of Medicine, New York, NY, USA.ORCID 0000-0001-7621-2630
Melissa A FaithDepartment of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Thomas G FazzioDepartment of Molecular, Cell, and Cancer Biology, University of Massachusetts Chan Medical School, Worcester, MA, USA.
Robert S FultonDepartment of Genetics, Washington University, St. Louis, MO, USA.
Manuel GarberProgram in Bioinformatics and Integrative Biology, University of Massachusetts Chan Medical School, Worcester, MA, USA.ORCID 0000-0001-8732-1293
Nils GehlenborgDepartment of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.ORCID 0000-0003-0327-8297
Soren GermerNew York Genome Center, New York, NY, USA.ORCID 0000-0002-6038-8508
Gad GetzBroad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID 0000-0002-0936-0753
Richard A GibbsHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
Raquel G HernandezDepartment of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Fulai JinDepartment of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH, USA.ORCID 0000-0003-0025-4337
Jan O KorbelEuropean Molecular Biology Laboratory, Genome Biology Unit, Heidelberg, Germany.
Dan A LandauNew York Genome Center, New York, NY, USA.
Heather A LawsonDepartment of Genetics, Washington University School of Medicine, St. Louis, MO, USA.
Niall J LennonBroad Institute of MIT and Harvard, Cambridge, MA, USA.
Heng LiDepartment of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.
Yan LiDepartment of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH, USA.ORCID 0000-0003-1910-6705
Po-Ru LohBroad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID 0000-0001-5542-9064
Gabor MarthDepartment of Human Genetics, University of Utah, Salt Lake City, UT, USA.ORCID 0000-0003-0222-1694
Michael J McConnellLieber Institute for Brain Development, Baltimore, MD, USA.
Ryan E MillsDepartment of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, USA.ORCID 0000-0003-3425-6998
Stephen B MontgomeryDepartment of Pathology, Stanford University, Stanford, CA, USA.ORCID 0000-0002-5200-3903
Pradeep NatarajanBroad Institute of MIT and Harvard, Cambridge, MA, USA.
Peter J ParkDepartment of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.ORCID 0000-0001-9378-960X
Rahul SatijaNew York Genome Center, New York, NY, USA.ORCID 0000-0001-9448-8833
Fritz J SedlazeckHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.ORCID 0000-0001-6040-2691
Diane D ShaoDivision of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.ORCID 0000-0003-2087-4082
Hui ShenDepartment of Epigenetics, Van Andel Institute, Grand Rapids, MI, USA.ORCID 0000-0001-9767-4084
Andrew B StergachisDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.ORCID 0000-0002-1299-3674
Hunter R UnderhillDivision of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT, USA.
Alexander E UrbanDepartment of Genetics, Stanford University, Stanford, CA, USA.ORCID 0000-0001-9772-933X
Melissa W VonDranNational Disease Research Interchange, Philadelphia, PA, USA.
Christopher A WalshBroad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID 0000-0002-0156-2238
Ting WangMcDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA.ORCID 0000-0002-6800-242X
Tao P WuDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.ORCID 0000-0002-9859-4534
Chenghang ZongDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.ORCID 0000-0002-8337-8038
Eunjung Alice LeeBroad Institute of MIT and Harvard, Cambridge, MA, USA. ealice.lee@childrens.harvard.edu.ORCID 0000-0002-6574-9261
Flora M VaccarinoChild Study Center, Yale University, New Haven, CT, USA. flora.vaccarino@yale.edu.ORCID 0000-0003-2167-981X
Somatic Mosaicism across Human Tissues Network
Funding
TUMOR METABOLISM PROGRAMP30CA043703 · CASE WESTERN RESERVE UNIVERSITY · 1987 to 2025
$28.4MWashU-VAI Somatic Mosaicism across Human Tissues (SMaHT) Program Genome Characterization CenterUM1DA058219 · WASHINGTON UNIVERSITY · 2025 to 2025
$6.7MUniversity of Michigan Training Program in Genomic ScienceT32HG000040 · UNIVERSITY OF MICHIGAN AT ANN ARBOR · 1995 to 2025
$3.5MWhole Individual Comprehensive KnowlEDge: Somatic Mosaicism across Human Tissues (WICKed SMaHT)UM1DA058235 · BROAD INSTITUTE, INC. · 2025 to 2025
$3.1MComprehensive Somatic Variant Characterization at the HGSCUM1DA058229 · BAYLOR COLLEGE OF MEDICINE · 2025 to 2025
$3.0M'Mosaicism in Human Tissues, from Telomere to Telomere to RFA-22-013: "Somatic Mosaicism across Human Tissues Program: Genome Characterization Centers."UM1DA058220 · SEATTLE CHILDREN'S HOSPITAL · 2025 to 2025
$3.0MNew York Genome Characterization Center: Somatic Mosaicism across Human TissuesUM1DA058236 · NEW YORK GENOME CENTER · 2025 to 2025
$2.5MWashU Somatic Mosaicism across Human Tissues (SMaHT) Program Organizational CenterU24NS132103 · WASHINGTON UNIVERSITY · 2025 to 2025
$1.5MCellular Imaging Core (CIC)P50HD105351 · BOSTON CHILDREN'S HOSPITAL · 2025 to 2025
$1.4MvarCUT&Tag: A Method for Simultaneous Identification and Characterization of Sequence Variants in Regulatory Elements and GenesUH3NS132136 · UNIV OF MASSACHUSETTS MED SCH WORCESTER · 2025 to 2025
$670kMolecular and Computational Tools for Identifying Somatic Mosaicism in Human TissuesUH3NS132084 · UNIVERSITY OF MICHIGAN AT ANN ARBOR · 2025 to 2025
$641kEstablishing and benchmarking advanced methods to comprehensively characterize somatic genome variation in single human cellsUH3NS132146 · STANFORD UNIVERSITY · 2025 to 2025
$627kNCI NIH HHS P30 CA043703NCI NIH HHS R01 CA267872NCI NIH HHS T32 CA251066NHGRI NIH HHS R00 HG012956NHGRI NIH HHS R01 HG009658NHGRI NIH HHS T32 HG000040NICHD NIH HHS P50 HD105351NIDA NIH HHS UM1 DA058219NIDA NIH HHS UM1 DA058220NIDA NIH HHS UM1 DA058229NIDA NIH HHS UM1 DA058230NIDA NIH HHS UM1 DA058235NIDA NIH HHS UM1 DA058236NIDDK NIH HHS R01 DK113185NIDDK NIH HHS R01 DK131437NIMH NIH HHS K08 MH136407NIMH NIH HHS U24 MH133204NINDS NIH HHS U24 NS132103NINDS NIH HHS UG3 NS132024NINDS NIH HHS UG3 NS132061NINDS NIH HHS UG3 NS132084NINDS NIH HHS UG3 NS132105NINDS NIH HHS UG3 NS132127NINDS NIH HHS UG3 NS132128NINDS NIH HHS UG3 NS132132NINDS NIH HHS UG3 NS132134NINDS NIH HHS UG3 NS132135NINDS NIH HHS UG3 NS132136NINDS NIH HHS UG3 NS132138NINDS NIH HHS UG3 NS132139NINDS NIH HHS UG3 NS132144NINDS NIH HHS UG3 NS132146NINDS NIH HHS UH3 NS132084NINDS NIH HHS UH3 NS132136NINDS NIH HHS UH3 NS132146
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.
Indexed as
MosaicismMutationOrgan SpecificityAgingClone CellsFemaleHumansMalePhenotype
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.