ArticleNature2018
Insights into clonal haematopoiesis from 8,342 mosaic chromosomal alterations.
Article in Nature, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 276 papers, 4 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
276 citing papers in PubMed, 4 syntheses or guidelines pooled it, 424 citations in OpenAlex.
- Contribution of germline and somatic mutations to risk of neuromyelitis optica spectrum disorder.Cell genomics · 2025Pooled it
- Increased somatic mosaicism in autosomal and X chromosomes for suicide death.Molecular psychiatry · 2025Pooled it
- Mosaic Chromosomal Alterations and Human Longevity.The journals of gerontology. Series A, Biological sciences and medical sciences · 2023Pooled it
- Gene expression associations with body mass index in the Multi-Ethnic Study of Atherosclerosis.International journal of obesity (2005) · 2023Pooled it
- Germline Variation and Somatic Alterations in Ewing Sarcoma.Methods in molecular biology (Clifton, N.J.) · 2027Article
- Review
- Mosaic chromosomal alterations and relation to haematological cancer in two large Danish cohorts.British journal of haematology · 2026Article
- Article
- Germline homologous recombination deficiency influences TP53-mutant clonal hematopoiesis fitness during platinum and PARP inhibitor treatment.Nature genetics · 2026Article
- Pervasive Somatic Mutations inbioRxiv : the preprint server for biology · 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
- STK11 Mutations and Deletions Define an Aggressive Molecular Subgroup of Cervical Adenocarcinoma.Cancer medicine · 2026Article
- Mosaic Chromosomal Alterations Identify Ultra-High Risk Clonal Hematopoiesis in Patients With Lymphoma Undergoing Intensive Chemotherapy.American journal of hematology · 2026Article
- Article
- 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 Chromosome Y, Smoking, and Risk of Symptomatic Peripheral Artery Disease: Insights From a Longitudinal Cohort Study.Journal of the American Heart Association · 2026Article
- Mosaic chromosomal alterations are suppressed in older adults with HIV.Communications biology · 2026Article
- Mosaic loss of Y chromosome associates with lung function, emphysema, and epigenetic aging.American journal of respiratory and critical care medicine · 2026Article
216 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors at 6 institutions in 2 countries.
Funding
Abstract
The selective pressures that shape clonal evolution in healthy individuals are largely unknown. Here we investigate 8,342 mosaic chromosomal alterations, from 50 kb to 249 Mb long, that we uncovered in blood-derived DNA from 151,202 UK Biobank participants using phase-based computational techniques (estimated false discovery rate, 6-9%). We found six loci at which inherited variants associated strongly with the acquisition of deletions or loss of heterozygosity in cis. At three such loci (MPL, TM2D3-TARSL2, and FRA10B), we identified a likely causal variant that acted with high penetrance (5-50%). Inherited alleles at one locus appeared to affect the probability of somatic mutation, and at three other loci to be objects of positive or negative clonal selection. Several specific mosaic chromosomal alterations were strongly associated with future haematological malignancies. Our results reveal a multitude of paths towards clonal expansions with a wide range of effects on human health.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.