Clonal hematopoiesis, with and without candidate driver mutations, is common in the elderly
Open accessAbstract
Key Points: Whole-genome sequencing of 11 262 Icelanders reveals that clonal hematopoiesis is very common in the elderly. Somatic mutation of some genes is strongly associated with clonal hematopoiesis, but in most cases, no driver mutations were evident.
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All of the Alzheimer's disease-enriched genes represent critical tumor suppressor genes widely implicated in various cancers and clonal hematopoiesis.
“All of these AD-enriched genes represent critical TSGs widely implicated in various cancers33 and CH34.”
From Somatic cancer variants enriched in Alzheimer’s disease microglia-like cells drive inflammatory and proliferative states (2026) · cites this paper as [34]
The 'Association of driver mutations with clonal hematopoiesis' section reports significant CH associations for several genes, including TET2, DNMT3A, ASXL1, and PPM1D. It does not identify the citing paper’s AD-enriched genes or establish that all of them are implicated in CH. The separate cancer citation (33) is not assessed here. (LLM, conf=0.83)
Experimental — accuracy not yet measuredAlzheimer's disease patients showed missense variants in TET2 that clustered in its critical oxygenase domains, a similar mutational pattern to that seen in clonal hematopoiesis, which was not observed in aged controls.
“AD patients also showed missense variants in TET2 that clustered in its critical oxygenase domains (Figure 2F), a similar mutational pattern to that seen in CH34 (Figure S2D) that was not observed in our aged controls.”
From Somatic cancer variants enriched in Alzheimer’s disease microglia-like cells drive inflammatory and proliferative states (2026) · cites this paper as [34]
The ‘Association of driver mutations with clonal hematopoiesis’ section reports that TET2 mutations are significantly associated with CH. Our copy does not describe TET2 missense variants clustering in oxygenase domains, so it does not establish the specific mutational-pattern similarity for which this source is cited. The AD patients and aged controls are the citing authors’ own observations, not findings attributed to this source. (LLM, conf=0.81)
Experimental — accuracy not yet measuredMost Alzheimer's disease somatic variants in ASXL1 were nonsense variants broadly distributed across the encoded protein, including two recurrent alleles observed in AD patients, similar to ASXL1 variants in clonal hematopoiesis events of blood.
“Most AD somatic variants in ASXL1 were nonsense variants broadly distributed across the encoded protein, including two recurrent alleles observed in AD patients, similar to what is seen in ASXL1 variants in CH events of blood34 (Figure S2D).”
From Somatic cancer variants enriched in Alzheimer’s disease microglia-like cells drive inflammatory and proliferative states (2026) · cites this paper as [34]
Split into 2 atoms — 0 confirmed, 2 partially supported, 0 disputed, 0 misattributed, 0 unverifiable. Expand the claim to see per-atom verdicts.
Experimental — accuracy not yet measuredCH is associated with chronic obstructive pulmonary disease and other pulmonary disease.
“Various other systemic effects have been described in association with CH, including chronic obstructive pulmonary disease and other pulmonary disease [16,33,34]”
From Clonal hematopoiesis and inflammation – the perpetual cycle (2023) · cites this paper as [16]
In “Association of CH with other phenotypes” (page not provided), the paper reports a significant association between CH, measured by WGS-outlier status, and chronic pulmonary disease. It does not report a separate association with chronic obstructive pulmonary disease (COPD); COPD appears elsewhere as a variable used for adjustment. (LLM, conf=0.86)
Experimental — accuracy not yet measuredCHIP is an age-related condition affecting over 10-20% of individuals older than 70 years.
“Clonal hematopoiesis of indeterminate potential (CHIP) is an age-related condition affecting over 10–20% of individuals older than 70 years”
From Clonal Hematopoiesis of Indeterminate Potential as an Emerging Interdisciplinary Risk Factor in Alzheimer’s Disease: Current Evidence and Future Directions (2026) · cites this paper as [3]
The section ‘Clonal hematopoiesis is very common in the elderly’ reports that clonal hematopoiesis increases with age and exceeds 50% among people older than 85. It does not establish the claimed 10–20% prevalence for CHIP specifically among people older than 70; its whole-genome measure includes cases without candidate driver mutations. (LLM, conf=0.85)
Experimental — accuracy not yet measured
The standard diagnostic threshold for CHIP is often set at 2%, but high-sensitivity sequencing can detect small clones at levels as low as 0.5%.
“While the standard diagnostic threshold is often set at 2%, high-sensitivity sequencing can detect small clones at levels as low as 0.5%”
From Clonal Hematopoiesis of Indeterminate Potential as an Emerging Interdisciplinary Risk Factor in Alzheimer’s Disease: Current Evidence and Future Directions (2026) · cites this paper as [3]
The Introduction says some investigators proposed a 2% variant-allele-fraction cutoff for an at-risk clinical entity; it does not call this an established diagnostic threshold. Panel resequencing reports detecting variants down to 1%, not 0.5%. Page numbers are unavailable in our copy. (LLM, conf=0.88)
Experimental — accuracy not yet measuredCHIP prevalence reaches approximately 39% in individuals older than 60 years when high-sensitivity sequencing with VAF greater than 0.5% is used.
“reaching approximately 39% in individuals older than 60 years when utilizing high-sensitivity sequencing (Variant Allele Fraction (VAF) greater than 0.5%) [2,3]”
From Clonal Hematopoiesis of Indeterminate Potential as an Emerging Interdisciplinary Risk Factor in Alzheimer’s Disease: Current Evidence and Future Directions (2026) · cites this paper as [3]
The ‘Clonal hematopoiesis is very common in the elderly’ section reports that detection rises with age and exceeds 50% after age 85, supporting the broad prevalence point. It does not report approximately 39% for people over 60. The ‘Identification of mosaic somatic mutations’ section gives a lower WGS detection limit of VAF 0.1, while ‘Panel resequencing’ reports calls down to VAF 0.01—not the claimed 0.5% threshold. (LLM, conf=0.88)
Experimental — accuracy not yet measuredTime-dependent accumulation of stochastic DNA damage hampers stem cell functionality, increases mutations during human HSC ageing, impairs functional properties, promotes clonal expansion and loss of clonal diversity, and raises oncogenic potential.
“Thus, time-dependent accumulation of stochastic DNA damage severely hampers stem cell functionality, increasing mutations during human HSC ageing80, impairing functional properties, promoting clonal expansion of positively selected somatic mutations resulting in loss of clonal diversity81 or raising the potential for oncogenic transformation.”
From The central role of DNA damage in the ageing process (2021) · cites this paper as [81]
Clonal hematopoiesis is common in elderly people.
“clonal hematopoiesis is a frequent event in elderly people.”
From Aging of hematopoietic stem cells (2018) · cites this paper as [74]
In otherwise healthy people, clonal hematopoiesis raises the risk of leukemia and cardiovascular disease and is linked to higher mortality.
“clonal hematopoiesis in otherwise healthy individuals increases the risk to develop leukemia, and, interestingly, cardiovascular disease, and thus is associated with increased mortality.”
From Aging of hematopoietic stem cells (2018) · cites this paper as [74]
Many very old but healthy individuals have prominent clonal hematopoiesis without any signs of disease.
“in many perfectly healthy very aged individuals, prominent clonal hematopoiesis is present without any signs of disease.”
From Aging of hematopoietic stem cells (2018) · cites this paper as [74]
The epigenetic genes most frequently affected in these conditions include DNMT3A, EZH2, TET2, and SETDB1.
“Epigenetic genes that are relatively frequently affected in these conditions include DNMT3A, EZH2, TET2, and SETDB1.”
From Aging of hematopoietic stem cells (2018) · cites this paper as [74]
Clonal hematopoiesis has been observed in the absence of any known driver mutation.
“Further complicating the picture, clonal hematopoiesis has been observed in the absence of any known driver mutation 27,37.”
From Clonal hematopoiesis in human aging and disease (2019) · cites this paper as [37]
Recent studies have implicated genetic predispositions and the microbiome in the etiology and progression of clonal hematopoiesis.
“Recent studies have implicated genetic predispositions 37,61 as well as the microbiome 62 in the etiology and progression of clonal hematopoiesis.”
From Clonal hematopoiesis in human aging and disease (2019) · cites this paper as [37]
CHIP is associated with a 30-40% increased mortality risk.
“Several studies have found that CHIP is associated with a 30–40% increased mortality risk 27,28,37.”
From Clonal hematopoiesis in human aging and disease (2019) · cites this paper as [37]
The link between CHIP and COPD could be confounded by smoking, because CHIP was also strongly linked to smoking in these studies.
“However, CHIP was also strongly linked to smoking in these studies, so the result could be confounded by this association.”
From Clonal hematopoiesis in human aging and disease (2019) · cites this paper as [37]
CHIP is linked to chronic obstructive pulmonary disease (COPD).
“Other studies have found links between CHIP and chronic obstructive pulmonary disease (COPD) 37,63.”
From Clonal hematopoiesis in human aging and disease (2019) · cites this paper as [37]
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Cites
Age-related clonal hematopoiesis associated with adverse outcomes
Jaiswal, S., Fontanillas, P., Flannick, J., Manning, A., Grauman, P. V., Mar, B. G., Lindsley, R. C., Mermel, C. H., Burtt, N., Chavez, A., et al. (2014) · New England Journal of Medicine · doi:10.1056/nejmoa1408617 · Cited by 4,841 · see citing works
The origin and evolution of mutations in acute myeloid leukemia
Welch, J. S., Ley, T. J., Link, D. C., Miller, C. A., Larson, D. E., Koboldt, D. C., Wartman, L. D., Lamprecht, T. L., Liu, F., Xia, J., et al. (2012) · Cell · doi:10.1016/j.cell.2012.06.023 · Cited by 1,575 · see citing works
Identification of pre-leukaemic haematopoietic stem cells in acute leukaemia
Shlush, L. I., Zandi, S., Mitchell, A., Chen, W. C., Brandwein, J. M., Gupta, V., Kennedy, J. A., Schimmer, A. D., Schuh, A. C., Yee, K. W., et al. (2014) · Nature · doi:10.1038/nature13038 · Cited by 1,443 · see citing works
Human bone marrow hematopoietic stem cells are increased in frequency and myeloid-biased with age
Pang, W. W., Price, E. A., Sahoo, D., Beerman, I., Maloney, W. J., Rossi, D. J., Schrier, S. L., & Weissman, I. L. (2011) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1116110108 · Cited by 991 · see citing works
Clonal evolution of preleukemic hematopoietic stem cells precedes human acute myeloid leukemia
Jan, M., Snyder, T. M., Corces-Zimmerman, M. R., Vyas, P., Weissman, I. L., Quake, S. R., & Majeti, R. (2012) · Science Translational Medicine · doi:10.1126/scitranslmed.3004315 · Cited by 721 · see citing works
Clonal haematopoiesis harbouring AML-associated mutations is ubiquitous in healthy adults
Young, A. L., Challen, G. A., Birmann, B. M., & Druley, T. E. (2016) · Nature Communications · doi:10.1038/ncomms12484 · Cited by 692 · see citing works
Parental origin of sequence variants associated with complex diseases
DIAGRAM Consortium, Kong, A., Steinthorsdottir, V., Masson, G., Thorleifsson, G., Sulem, P., Besenbacher, S., Jonasdottir, A., Sigurdsson, A., Kristinsson, K. T., et al. (2009) · Nature · doi:10.1038/nature08625 · Cited by 553 · see citing works
Self-citationNonrandom X-inactivation patterns in normal females: lyonization ratios vary with age
Busque, L., Mio, R., Mattioli, J., Brais, E., Blais, N., Lalonde, Y., Maragh, M., & Gilliland, D. (1996) · Blood · doi:10.1182/blood.v88.1.59.59 · Cited by 543 · see citing works
Leukemia-associated somatic mutations drive distinct patterns of age-related clonal hemopoiesis
McKerrell, T., Park, N., Moreno, T., Grove, C. S., Ponstingl, H., Stephens, J., Crawley, C., Craig, J., Scott, M. A., Hodkinson, C., et al. (2015) · Cell Reports · doi:10.1016/j.celrep.2015.02.005 · Cited by 534 · see citing works
Detection of sharing by descent, long-range phasing and haplotype imputation
Kong, A., Masson, G., Frigge, M. L., Gylfason, A., Zusmanovich, P., Thorleifsson, G., Olason, P. I., Ingason, A., Steinberg, S., Rafnar, T., et al. (2008) · Nature Genetics · doi:10.1038/ng.216 · Cited by 447 · see citing works
Self-citationHematopoietic Stem Cells Are the Major Source of Multilineage Hematopoiesis in Adult Animals
Sawai, C. M., Babovic, S., Upadhaya, S., Knapp, D. J. H. F., Lavin, Y., Lau, C. M., Goloborodko, A., Feng, J., Fujisaki, J., Ding, L., et al. (2016) · Immunity · doi:10.1016/j.immuni.2016.08.007 · Cited by 381 · see citing works
The replication rate of human hematopoietic stem cells in vivo
Catlin, S. N., Busque, L., Gale, R. E., Guttorp, P., & Abkowitz, J. L. (2011) · Blood · doi:10.1182/blood-2010-08-303537 · Cited by 259 · see citing works
Champion, K. M., Gilbert, J. G. R., Asimakopoulos, F. A., Hinshelwood, S., & Green, A. R. (1997) · British Journal of Haematology · doi:10.1046/j.1365-2141.1997.1933010.x · Cited by 171 · see citing works
Flagged first, then by citations
Research works printed but not linked: 37
- Busque L, Paquette Y, Provost S, et al. Skewing of X-inactivation ratios in blood cells of aging women is confirmed by independent methodologies. Blood. 2009;113(15):3472-3474.
- Fey MF, Liechti-Gallati S, von Rohr A, et al. Clonality and X-inactivation patterns in hematopoietic cell populations detected by the highly informative M27 beta DNA probe. Blood. 1994;83(4):931-938.
- Gale RE, Wheadon H, Linch DC. X-chromosome inactivation patterns using HPRT and PGK polymorphisms in haematologically normal and post-chemotherapy females. Br J Haematol. 1991;79(2):193-197.
- Anger B, Janssen JW, Schrezenmeier H, Hehlmann R, Heimpel H, Bartram CR. Clonal analysis of chronic myeloproliferative disorders using X-linked DNA polymorphisms. Leukemia. 1990;4(4):258-261.
- Fialkow PJ, Faguet GB, Jacobson RJ, Vaidya K, Murphy S. Evidence that essential thrombocythemia is a clonal disorder with origin in a multipotent stem cell. Blood. 1981; 58(5):916-919.
- Raskind WH, Tirumali N, Jacobson R, Singer J, Fialkow PJ. Evidence for a multistep pathogenesis of a myelodysplastic syndrome. Blood. 1984;63(6):1318-1323.
- Wiggans RG, Jacobson RJ, Fialkow PJ, Woolley PV III, Macdonald JS, Schein PS. Probable clonal origin of acute myeloblastic leukemia following radiation and chemotherapy of colon cancer. Blood. 1978;52(4):659-663.
- Grove CS, Vassiliou GS. Acute myeloid leukaemia: a paradigm for the clonal evolution of cancer? Dis Model Mech. 2014;7(8):941-951.
- Corces-Zimmerman MR, Hong W-J, Weissman IL, Medeiros BC, Majeti R. Preleukemic mutations in human acute myeloid leukemia affect epigenetic regulators and persist in remission. Proc Natl Acad Sci USA. 2014;111(7):2548-2553.
- Kr önke J, Bullinger L, Teleanu V, et al. Clonal evolution in relapsed NPM1-mutated acute myeloid leukemia. Blood. 2013;122(1):100-108.
- Busque L, Patel JP, Figueroa ME, et al. Recurrent somatic TET2 mutations in normal elderly individuals with clonal hematopoiesis. Nat Genet. 2012;44(11):1179-1181.
- Steensma DP, Bejar R, Jaiswal S, et al. Clonal hematopoiesis of indeterminate potential and its distinction from myelodysplastic syndromes. Blood. 2015;126(1):9-16.
- Genovese G, K ähler AK, Handsaker RE, et al. Clonal hematopoiesis and blood-cancer risk inferred from blood DNA sequence. N Engl J Med. 2014;371(26):2477-2487.
- Xie M, Lu C, Wang J, et al. Age-related mutations associated with clonal hematopoietic expansion and malignancies. Nat Med. 2014;20(12): 1472-1478.
- Holstege H, Pfeiffer W, Sie D, et al. Somatic mutations found in the healthy blood compartment of a 115-yr-old woman demonstrate oligoclonal hematopoiesis. Genome Res. 2014;24(5): 733-742.
- Gudbjartsson DF, Helgason H, Gudjonsson SA, et al. Large-scale whole-genome sequencing of the Icelandic population. Nat Genet. 2015;47(5): 435-444.
- McKenna A, Hanna M, Banks E, et al. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res. 2010;20(9): 1297-1303.
- McLaren W, Pritchard B, Rios D, Chen Y, Flicek P, Cunningham F. Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor. Bioinformatics. 2010;26(16): 2069-2070.
- Ley TJ, Miller C, Ding L, et al; Cancer Genome Atlas Research Network. Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia. N Engl J Med. 2013;368(22): 2059-2074.
- Steinthorsdottir V, Thorleifsson G, Sulem P, et al. Identification of low-frequency and rare sequence variants associated with elevated or reduced risk of type 2 diabetes. Nat Genet. 2014;46(3): 294-298.
- Ding Z, Mangino M, Aviv A, Spector T, Durbin R; UK10K Consortium. Estimating telomere length from whole genome sequence data. Nucleic Acids Res. 2014;42(9):e75.
- Dingli D, Traulsen A, Michor F. (A)symmetric stem cell replication and cancer. PLOS Comput Biol. 2007;3(3):e53.
- Ruark E, Snape K, Humburg P, et al; Breast and Ovarian Cancer Susceptibility Collaboration; Wellcome Trust Case Control Consortium. Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer. Nature. 2013;493(7432):406-410.
- Swisher EM, Harrell MI, Norquist BM, et al. Somatic mosaic mutations in PPM1D and TP53 in the blood of women with ovarian carcinoma. JAMA Oncol. 2016;2(3):370-372.
- Forsberg LA, Rasi C, Malmqvist N, et al. Mosaic loss of chromosome Y in peripheral blood is associated with shorter survival and higher risk of cancer. Nat Genet. 2014;46(6):624-628.
- Jacobs PA, Brunton M, Court Brown WM, Doll R, Goldstein H. Change of human chromosome count distribution with age: evidence for a sex differences. Nature. 1963;197:1080-1081.
- Pierre RV, Hoagland HC. Age-associated aneuploidy: loss of Y chromosome from human bone marrow cells with aging. Cancer. 1972; 30(4):889-894.
- Klein AM, Simons BD. Universal patterns of stem cell fate in cycling adult tissues. Development. 2011;138(15):3103-3111.
- Dingli D, Pacheco JM. Allometric scaling of the active hematopoietic stem cell pool across mammals. PLoS One. 2006;1:e2.
- Rozhok AI, Salstrom JL, DeGregori J. Stochastic modeling reveals an evolutionary mechanism underlying elevated rates of childhood leukemia. Proc Natl Acad Sci USA. 2016;113(4):1050-1055.
- Oddsson A, Kristinsson SY, Helgason H, et al. The germline sequence variant rs2736100_C in TERT associates with myeloproliferative neoplasms. Leukemia. 2014;28(6):1371-1374.
- Gramatges MM, Bertuch AA. Short telomeres: from dyskeratosis congenita to sporadic aplastic anemia and malignancy. Transl Res. 2013;162(6):353-363.
- Townsley DM, Dumitriu B, Young NS. Bone marrow failure and the telomeropathies. Blood. 2014;124(18):2775-2783.
- Schroeder T. Hematopoietic stem cell heterogeneity: subtypes, not unpredictable behavior. Cell Stem Cell. 2010;6(3):203-207.
- Holman CD, Armstrong BK. Pigmentary traits, ethnic origin, benign nevi, and family history as risk factors for cutaneous malignant melanoma. J Natl Cancer Inst. 1984;72(2):257-266.
- Werner B, Beier F, Hummel S, et al. Reconstructing the in vivo dynamics of hematopoietic stem cells from telomere length distributions. eLife. 2015;4:e08687.
- Tomasetti C, Vogelstein B, Parmigiani G. Half or more of the somatic mutations in cancers of self- renewing tissues originate prior to tumor initiation. Proc Natl Acad Sci USA. 2013;110(6): 1999-2004.
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“Several studies have found that CHIP is associated with a 30 to 40% increased mortality risk (28, 29, 38).”
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Sano, S., Oshima, K., Wang, Y., MacLauchlan, S., Katanasaka, Y., Sano, M., Zuriaga, M. A., Yoshiyama, M., Goukassian, D., Cooper, M. A., et al. (2018) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2017.12.037 · Cited by 699 · see citing works
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Liberale, L., Tual-Chalot, S., Sedej, S., Ministrini, S., Georgiopoulos, G., Grunewald, M., Bäck, M., Bochaton-Piallat, M.-L., Boon, R. A., Ramos, G. C., et al. (2025) · Nature Reviews Cardiology · doi:10.1038/s41569-025-01130-5 · Cited by 59 · see citing works
Telomeres as Therapeutic Targets in Heart Disease
Yeh, J.-K., Lin, M.-H., & Wang, C.-Y. (2019) · JACC: Basic to Translational Science · doi:10.1016/j.jacbts.2019.05.009 · Cited by 49 · see citing works
Poisa-Beiro, L., Thoma, J., Landry, J., Sauer, S., Yamamoto, A., Eckstein, V., Romanov, N., Raffel, S., Hoffmann, G. F., Bork, P., et al. (2020) · Scientific Reports · doi:10.1038/s41598-020-68396-2 · Cited by 23 · see citing works
Matatall, K. A., Wathan, T. K., Nguyen, M., Chen, H., McDonald, A., Qi, G., Belk, J. A., Florez, M. A., Le, D. T., Olarinde, T., et al. (2025) · Cell Stem Cell · doi:10.1016/j.stem.2025.06.006 · Cited by 23 · see citing works
Huang, A. Y., Zhou, Z., Talukdar, M., Enyenihi, L., Miller, M. B., Chhouk, B., Rosen, I., Zheng, M., Zhou, M., Yang, A., et al. (2026) · Cell · doi:10.1016/j.cell.2026.03.040 · Cited by 15 · see citing works
Yun, J., Youn, Y. C., & Kim, H. R. (2024) · Annals of Laboratory Medicine · doi:10.3343/alm.2024.0086 · Cited by 6 · see citing works
<i>Tet2</i> and <i>Jak2</i> clonal hematopoiesis do not modify murine tauopathy
Gaebel, L., Gerhardt, T., Khamhoung, A., Huynh, P., Heiser, M., Brisnovali, N. F., Jacob, W., Yates, A. G., Douglas, A., Fidler, T., et al. (2026) · Journal of Alzheimer’s Disease · doi:10.1177/13872877261458734 · Cited by 1 · see citing works
Kopp, K., Silva, P., Damm, F., & Cosma, N. C. (2026) · Biomedicines · doi:10.3390/biomedicines14051012
- Authors
- Zink, F., Stacey, S. N., Norddahl, G. L., Frigge, M. L., Magnusson, O. T., Jonsdottir, I., Thorgeirsson, T. E., Sigurdsson, A., Gudjonsson, S. A., Gudmundsson, J., Jonasson, J. G., Tryggvadottir, L., Jonsson, T., Helgason, A., Gylfason, A., Sulem, P., Rafnar, T., Thorsteinsdottir, U., Gudbjartsson, D. F., Masson, G., Kong, A., & Stefansson, K.
- Affiliations
- deCODE Genetics (Iceland) (IS)
- deCODE genetics/AMGEN, Reykjavik, Iceland;
- University of Iceland (IS)
- Icelandic Cancer Registry, Reykjavik, Iceland; and
- Landspitali-University Hospital, Reykjavik, Iceland;
- ORCID
- Venue
- Blood
- Publisher
- American Society of Hematology
- Published
- 2017-08-10
- Volume
- 130
- Issue
- 6
- Pages
- 742-752
- ISSN
- 0006-4971 (ISSN-L)
- 1528-0020
- PMC
- PMC5553576
- OpenAlex
- W2612571615
- Cited by
- 777
- References
- 13
- Citations by year
- 2026: 47 · 2025: 74 · 2024: 87 · 2023: 100 · 2022: 106 · 2021: 111 · 2020: 98 · 2019: 79 · 2018: 59 · 2017: 16
- FWCI
- 52.92
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Blood (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Hirsla (Landspítali University Hospital) (submittedVersion)
- Funders
- National Institutes of Health
- National Institute on Drug Abuse (R01DA017932, R01DA034076)
- Topics
- Health Sciences › Medicine › Hematology › Acute Myeloid Leukemia Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer Genomics and Diagnostics
- Health Sciences › Medicine › Genetics › Myeloproliferative Neoplasms: Diagnosis and Treatment
- Keywords
- clonal hematopoiesis, somatic mutations, driver mutations, older adults, whole genome sequencing, Icelandic population, cancer risk
- MeSH terms
- Protein Phosphatase 2C, DNA Methyltransferase 3A, Adult, Age Factors, Aged, Aged, 80 and over, Clone Cells, DNA (Cytosine-5-)-Methyltransferases, DNA-Binding Proteins, Female, Hematopoiesis, Hematopoietic Stem Cells, Humans, Male, Middle Aged, Mutation, Proto-Oncogene Proteins, Repressor Proteins, Risk Factors, Hematologic Neoplasms, Dioxygenases
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Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
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