ArticleNature genetics2012
Detectable clonal mosaicism from birth to old age and its relationship to cancer.
Article in Nature genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 370 papers, 3 of them syntheses that pooled it.
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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.
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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
370 citing papers in PubMed, 3 syntheses or guidelines pooled it.
- Contribution of germline and somatic mutations to risk of neuromyelitis optica spectrum disorder.Cell genomics · 2025Pooled it
- Clonal hematopoiesis of indeterminate potential as a prognostic factor: a systematic review and meta-analysis.Blood advances · 2024Pooled it
- Mosaic Chromosomal Alterations and Human Longevity.The journals of gerontology. Series A, Biological sciences and medical sciences · 2023Pooled it
- Deletion 20q12 is associated with histological transformation of nodal marginal zone lymphoma to diffuse large B-cell lymphoma.American journal of hematology · 2020Trial
- The average individual genome: a survey of nearly 1 million whole-genome sequences.Genome medicine · 2026Article
- Clinical management of clonal hematopoiesis.Cancer · 2026Review
- Genetic mechanisms of mitotic error in 840,853 blood genomes.medRxiv : the preprint server for health sciences · 2026Article
- Mosaic Chromosomal Alterations Identify Ultra-High Risk Clonal Hematopoiesis in Patients With Lymphoma Undergoing Intensive Chemotherapy.American journal of hematology · 2026Article
- Embracing non-linearity in human ageing.Nature reviews. Genetics · 2026Review
- The OmniAge compendium of aging omic biomarkers links mitotic clocks to clonal hematopoiesis and causality.Nature communications · 2026Article
- Charting single-cell lineages with synthetic and natural barcodes.Nature reviews. Genetics · 2026Review
- 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
- Clonal hematopoiesis and its progression to myeloid neoplasms: insights into risk, biology, and therapeutic strategies.Haematologica · 2026Review
- Loss of Chromosome Y Associates With Altered Immune Cell Trajectories and X-Inactivation Features.Aging cell · 2026Article
- Somatic mutations and clonal evolution in normal tissues and cancer development.Experimental & molecular medicine · 2026Review
- Donor-derived del[20q] following allogeneic-hematopoietic cell transplantation: a case with 26-year follow-up and literature review.Bone marrow transplantation · 2026Review
- Review
- Risk of clonal hematopoiesis in families exposed to radiation following the Chornobyl accident.Carcinogenesis · 2025Article
310 more citing papers are in PubMed but not listed here.
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73 authors.
Funding
Abstract
We detected clonal mosaicism for large chromosomal anomalies (duplications, deletions and uniparental disomy) using SNP microarray data from over 50,000 subjects recruited for genome-wide association studies. This detection method requires a relatively high frequency of cells with the same abnormal karyotype (>5-10%; presumably of clonal origin) in the presence of normal cells. The frequency of detectable clonal mosaicism in peripheral blood is low (<0.5%) from birth until 50 years of age, after which it rapidly rises to 2-3% in the elderly. Many of the mosaic anomalies are characteristic of those found in hematological cancers and identify common deleted regions with genes previously associated with these cancers. Although only 3% of subjects with detectable clonal mosaicism had any record of hematological cancer before DNA sampling, those without a previous diagnosis have an estimated tenfold higher risk of a subsequent hematological cancer (95% confidence interval = 6-18).
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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 OpenQuestion graph.