ArticleAmerican journal of human genetics2016
Extensive Hidden Genomic Mosaicism Revealed in Normal Tissue.
Article in American journal of human genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers.
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
43 citing papers in PubMed.
- Genetic mechanisms of mitotic error in 840,853 blood genomes.medRxiv : the preprint server for health sciences · 2026Article
- Patterns and drivers of 43,617 mosaic chromosomal alterations in blood.Nature genetics · 2026Article
- Detecting and quantifying clonal selection in somatic stem cells.Nature genetics · 2025Article
- Genetic drivers and clinical consequences of mosaic chromosomal alterations in 1 million individuals.medRxiv : the preprint server for health sciences · 2025Article
- Glyphosate Use and Mosaic Loss of Chromosome Y among Male Farmers in the Agricultural Health Study.Environmental health perspectives · 2023Article
- Mosaic chromosomal alterations in blood across ancestries using whole-genome sequencing.Nature genetics · 2023Article
- Risk factors for clonal hematopoiesis of indeterminate potential and mosaic chromosomal alterations.Translational research : the journal of laboratory and clinical medicine · 2023Review
- Allogenic Synovia-Derived Mesenchymal Stem Cells for Treatment of Equine Tendinopathies and Desmopathies-Proof of Concept.Animals : an open access journal from MDPI · 2023Article
- Clonal hematopoiesis due to mosaic chromosomal alterations: Impact on disease risk and mortality.Leukemia research · 2023Review
- Molecular and clinical aspects relevant for counseling individuals with clonal hematopoiesis of indeterminate potential.Frontiers in oncology · 2023Review
- Clonal hematopoiesis, somatic mosaicism, and age-associated disease.Physiological reviews · 2023Review
- Article
- Low-frequency somatic copy number alterations in normal human lymphocytes revealed by large-scale single-cell whole-genome profiling.Genome research · 2022Article
- Pathogenic postzygotic mosaicism in the tyrosine receptor kinase pathway: potential unidentified human disease hidden away in a few cells.The FEBS journal · 2021Review
- MONTAGE: a new tool for high-throughput detection of mosaic copy number variation.BMC genomics · 2021Article
- Large mosaic copy number variations confer autism risk.Nature neuroscience · 2021Article
- Detectable chromosome X mosaicism in males is rarely tolerated in peripheral leukocytes.Scientific reports · 2021Article
- Clonal Hematopoiesis Before, During, and After Human Spaceflight.Cell reports · 2020Article
- Review
- Interleukin-6 trans-signaling is a candidate mechanism to drive progression of human DCCs during clinical latency.Nature communications · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors.
Funding
Abstract
Genomic mosaicism arising from post-zygotic mutation has recently been demonstrated to occur in normal tissue of individuals ascertained with varied phenotypes, indicating that detectable mosaicism may be less an exception than a rule in the general population. A challenge to comprehensive cataloging of mosaic mutations and their consequences is the presence of heterogeneous mixtures of cells, rendering low-frequency clones difficult to discern. Here we applied a computational method using estimated haplotypes to characterize mosaic megabase-scale structural mutations in 31,100 GWA study subjects. We provide in silico validation of 293 previously identified somatic mutations and identify an additional 794 novel mutations, most of which exist at lower aberrant cell fractions than have been demonstrated in previous surveys. These mutations occurred across the genome but in a nonrandom manner, and several chromosomes and loci showed unusual levels of mutation. Our analysis supports recent findings about the relationship between clonal mosaicism and old age. Finally, our results, in which we demonstrate a nearly 3-fold higher rate of clonal mosaicism, suggest that SNP-based population surveys of mosaic structural mutations should be conducted with haplotypes for optimal discovery.
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.