ArticleNature genetics2023
Mosaic chromosomal alterations in blood across ancestries using whole-genome sequencing.
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Article in Nature genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers, 2 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
30citing papers in PubMed, 2 pooled it
14.5field-weighted citation impact, top 1% of its field
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
30 citing papers in PubMed, 2 syntheses or guidelines pooled it, 25 citations in OpenAlex.
- Epigenome-wide DNA methylation association study of CHIP provides insight into perturbed gene regulation.Nature communications · 2025Pooled it
- Increased somatic mosaicism in autosomal and X chromosomes for suicide death.Molecular psychiatry · 2025Pooled it
- Review
- Genetic mechanisms of mitotic error in 840,853 blood genomes.medRxiv : the preprint server for health sciences · 2026Article
- TET2 as a Context-Dependent Epigenetic Integrator in Clonal Hematopoiesis, Inflammation, Cancer, and Immunotherapy.Cell biochemistry and function · 2026Review
- Genetic influences on haematopoiesis.Nature reviews. Genetics · 2026Review
- Longitudinal characterization of mosaic chromosomal alterations identifies factors influencing clonal dynamics of leukocytes.Nature communications · 2026Article
- Mosaic loss of Y chromosome associates with lung function, emphysema, and epigenetic aging.American journal of respiratory and critical care medicine · 2026Article
- Patterns and drivers of 43,617 mosaic chromosomal alterations in blood.Nature genetics · 2026Article
- Bayesian Estimation of Mosaic Loss of Chromosome Y from Bulk RNA Sequencing Data.bioRxiv : the preprint server for biology · 2026Article
- Co-occurring clonal hematopoiesis exhibits strong selection and high leukemia risk.Nature communications · 2026Article
- Clinical decisions in clonal hematopoiesis: a contemporary review for clinicians.Haematologica · 2026Review
- Review
- Mutation-specific impairment of TET2 and DNMT3A enzymatic activity predicts clonal hematopoiesis disease risk.medRxiv : the preprint server for health sciences · 2026Article
- Clonal haematopoiesis in chronic lymphocytic leukaemia: Biology, inflammaging and clinical implications in the era of targeted therapy.Clinical and translational medicine · 2026Review
- Frequency and Distribution of Incidental Chromosomal Abnormalities Detected by Peripheral Blood Karyotyping: A Retrospective Study.Genetics research · 2026Article
- Target practice: Opportunities for therapeutic intervention in CHIP and CCUS.Blood reviews · 2025Review
- Clonal haematopoiesis in cardiovascular disease: prognostic role and novel therapeutic target.Nature reviews. Cardiology · 2025Review
- Article
- Geography, Ancestry, Age and Sex Shape Somatic Autosomal Mosaic Chromosomal Alterations in Blood.medRxiv : the preprint server for health sciences · 2025Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
51 authors at 20 institutions in 2 countries.
Yasminka A Jakubek *Department of Internal Medicine, University of Kentucky, Lexington, KY, USA.ORCID 0000-0003-1427-1015
Ying Zhou *Public Health Sciences Division, Fred Hutchinson Cancer Center, Seattle, WA, USA.
Adrienne Stilp *Department of Biostatistics, University of Washington, Seattle, WA, USA.ORCID 0000-0002-3910-0776
Jason Bacon *Department of Computer Science, Department of Biological Sciences, University of Wisconsin-Milwaukee, Milwaukee, WI, USA.
Justin W Wong *Department of Epidemiology, University of Texas M.D. Anderson Cancer Center, Houston, TX, USA.ORCID 0000-0002-6803-1060
Zuhal OzcanDepartment of Epidemiology, University of Texas M.D. Anderson Cancer Center, Houston, TX, USA.ORCID 0000-0002-8693-1935
Donna ArnettUniversity of South Carolina, Columbia, SC, USA.
Kathleen BarnesDivision of Biomedical Informatics and Personalized Medicine, School of Medicine University of Colorado Anschutz Medical Campus, Aurora, CO, USA.ORCID 0000-0002-3030-4705
Joshua C BisCardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, WA, USA.ORCID 0000-0002-3409-1110
Eric BoerwinkleHuman Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX, USA.
Jennifer A BrodyCardiovascular Health Research Unit, Department of Medicine, University of Washington Seattle, Seattle, WA, USA.
April P CarsonDepartment of Medicine, University of Mississippi Medical Center, Jackson, MS, USA.ORCID 0000-0002-7970-6756
Daniel I ChasmanBrigham and Women's Hospital, Boston, MA, USA.
Jiawen ChenDepartment of Biostatistics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Michael ChoChanning Division of Network Medicine, Brigham and Women's Hospital, Boston, MA, USA.
Matthew P ConomosDepartment of Biostatistics, University of Washington, Seattle, WA, USA.ORCID 0000-0001-9744-0851
Nancy CoxDivision of Genetic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Margaret F DoyleDepartment of Pathology and Laboratory Medicine, The University of Vermont Larner College of Medicine, Colchester, VT, USA.
Myriam FornageUniversity of Texas Health Science Center at Houston, Houston, TX, USA.ORCID 0000-0003-0677-8158
Xiuqing GuoThe Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA, USA.ORCID 0000-0002-5264-5068
Sharon L R KardiaDepartment of Epidemiology, School of Public Health, University of Michigan, Ann Arbor, MI, USA.
Joshua P LewisDepartment of Medicine, University of Maryland Baltimore, Baltimore, MD, USA.ORCID 0000-0002-4107-6066
Ruth J F LoosThe Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID 0000-0002-8532-5087
Xiaolong MaDivision of Biostatistics, Medical College of Wisconsin, Milwaukee, WI, USA.
Mitchell J MachielaNational Institutes of Health, Bethesda, MD, USA.ORCID 0000-0001-6538-9705
Taralynn M MackDivision of Genetic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.ORCID 0000-0003-1043-2950
Rasika A MathiasDivision of Allergy and Clinical Immunology, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MA, USA.ORCID 0000-0002-2282-9042
Braxton D MitchellDepartment of Medicine, University of Maryland Baltimore, Baltimore, MD, USA.ORCID 0000-0003-4920-4744
Josyf C MychaleckyjCenter for Public Health Genomics, Department of Public Health Sciences, University of Virginia School of Medicine, Charlottesville, VA, USA.
Kari NorthDepartment of Epidemiology, University of North Carolina Chapel-Hill, Chapel Hill, NC, USA.ORCID 0000-0002-8903-0366
Nathan PankratzDepartment of Laboratory Medicine and Pathology, University of Minnesota Medical School, Minneapolis, MN, USA.ORCID 0000-0001-5958-693X
Patricia A PeyserDepartment of Epidemiology, School of Public Health, University of Michigan, Ann Arbor, MI, USA.ORCID 0000-0002-9717-8459
Michael H PreussThe Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID 0000-0001-5266-8465
Bruce PsatyCardiovascular Health Research Unit, Department of Medicine, Department of Epidemiology, Department of Health Systems and Population Health, University of Washington, Seattle, WA, USA.ORCID 0000-0002-7278-2190
Laura M RaffieldDepartment of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.ORCID 0000-0002-7892-193X
Ramachandran S VasanDepartment of Epidemiology, Boston University, Boston, MA, USA.ORCID 0000-0001-7357-5970
Susan RedlineDivision of Sleep Medicine, Harvard Medical School, Boston, MA, USA.
Stephen S RichCenter for Public Health Genomics, Department of Public Health Sciences, University of Virginia School of Medicine, Charlottesville, VA, USA.ORCID 0000-0003-3872-7793
Jerome I RotterThe Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA, USA.ORCID 0000-0001-7191-1723
Edwin K SilvermanChanning Division of Network Medicine, Brigham and Women's Hospital, Boston, MA, USA.
Jennifer A SmithDepartment of Epidemiology, School of Public Health, University of Michigan, Ann Arbor, MI, USA.ORCID 0000-0002-3575-5468
Aaron P SmithInstitute for Biomedical Informatics, University of Kentucky, Lexington, KY, USA.
Margaret TaubDepartment of Biostatistics, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MA, USA.
Kent D TaylorThe Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA, USA.
Jeong YunChanning Division of Network Medicine, Brigham and Women's Hospital, Boston, MA, USA.ORCID 0000-0002-4361-8295
Yun LiDepartment of Biostatistics, Department of Genetics, Department of Computer Science, University of North Carolina Chapel-Hill, Chapel Hill, NC, USA.ORCID 0000-0002-9275-4189
Pinkal DesaiDepartment of Medicine, Weill Cornell Medicine, New York, NY, USA.
Alexander G BickDivision of Genetic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.ORCID 0000-0001-5824-9595
Alexander P ReinerDepartment of Epidemiology, University of Washington, Seattle, WA, USA.ORCID 0000-0002-1427-4470
Paul ScheetDepartment of Epidemiology, University of Texas M.D. Anderson Cancer Center, Houston, TX, USA. PAScheet@mdanderson.org.ORCID 0000-0002-5173-7497
Paul L AuerDivision of Biostatistics, Institute for Health and Equity, and Cancer Center, Medical College of Wisconsin, Milwaukee, WI, USA. pauer@mcw.edu.ORCID 0000-0003-1735-8044
University of Washington · USBrigham and Women's Hospital · USUniversity of North Carolina at Chapel Hill · USThe University of Texas MD Anderson Cancer Center · USUCLA Medical Center · USUniversity of Michigan · USVanderbilt University Medical Center · USJohns Hopkins University · USMedical College of Wisconsin · USThe University of Texas Health Science Center at Houston · USUniversity of Kentucky · USUniversity of Maryland, Baltimore · USUniversity of Virginia · USBoston University · USCornell University · USFred Hutch Cancer Center · USHarvard University · USIcahn School of Medicine at Mount Sinai · USJackson Memorial Hospital · USNational Institutes of Health · US
Funding
CHARGE Consortium: Omics Discovery for CVD and Aging PhenotypesR01HL105756 · NHLBI · UNIVERSITY OF WASHINGTON · PI Bruce M Psaty, NICHOLAS L SMITH · 2011 to 2026
$9.5MMulti-omic studies of asthma severity in an African ancestry populationR01AI132476 · NIAID · UNIVERSITY OF COLORADO DENVER · PI BARNES, KATHLEEN C, MATHIAS, RASIKA ANN · 2018 to 2022
$3.5MEstablishing the dynamics of lymphoid clonal hematopoiesis and its aging-related disease consequencesR01AG083736 · NIA · VANDERBILT UNIVERSITY MEDICAL CENTER · PI Paul L. Auer, Alexander Bick · 2023 to 2026
$2.8MTargeting Clonal Hematopoiesis of Indeterminate Potential Using Human GeneticsDP5OD029586 · OD · VANDERBILT UNIVERSITY MEDICAL CENTER · PI BICK, ALEXANDER · 2020 to 2024
$2.3MThe role of COPD genetic risk factor HHIP on lymphocytic inflammationK08HL146972 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI YUN, JEONG H · 2020 to 2024
$848kAdmixture mapping of mosaic copy number alterations for identification of cancer driversK22CA258678 · NCI · UNIVERSITY OF KENTUCKY · PI JAKUBEK SWARTZLANDER, YASMINKA ALEKSANDRA · 2022 to 2024
$541kNCI NIH HHS K22 CA258678NHLBI NIH HHS K08 HL146972NHLBI NIH HHS R01 HL105756NIAID NIH HHS R01 AI132476NIA NIH HHS R01 AG083736NIH HHS DP5 OD029586
Abstract
Megabase-scale mosaic chromosomal alterations (mCAs) in blood are prognostic markers for a host of human diseases. Here, to gain a better understanding of mCA rates in genetically diverse populations, we analyzed whole-genome sequencing data from 67,390 individuals from the National Heart, Lung, and Blood Institute Trans-Omics for Precision Medicine program. We observed higher sensitivity with whole-genome sequencing data, compared with array-based data, in uncovering mCAs at low mutant cell fractions and found that individuals of European ancestry have the highest rates of autosomal mCAs and the lowest rates of chromosome X mCAs, compared with individuals of African or Hispanic ancestry. Although further studies in diverse populations will be needed to replicate our findings, we report three loci associated with loss of chromosome X, associations between autosomal mCAs and rare variants in DCPS, ADM17, PPP1R16B and TET2 and ancestry-specific variants in ATM and MPL with mCAs in cis.
Indexed as
Genome, HumanGenome-Wide Association StudyMosaicismBlack PeopleHispanic or LatinoHumansPrecision Medicine
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