ReviewSeminars in hematology2013
Detectable clonal mosaicism in the human genome.
Review in Seminars in hematology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 1 of them a synthesis that pooled it.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
25 citing papers in PubMed, 1 synthesis or guideline pooled it, 36 citations in OpenAlex.
- Characterization of large structural genetic mosaicism in human autosomes.American journal of human genetics · 2015Pooled it
- Mosaic chromosomal alterations in peripheral blood leukocytes of children in sub-Saharan Africa.Nature communications · 2023Article
- Glyphosate Use and Mosaic Loss of Chromosome Y among Male Farmers in the Agricultural Health Study.Environmental health perspectives · 2023Article
- Serum biomarkers are altered in UK Biobank participants with mosaic chromosomal alterations.Human molecular genetics · 2023Article
- Somatic Mosaic Chromosomal Alterations and Death of Cardiovascular Disease Causes among Cancer Survivors.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2023Article
- Incident disease associations with mosaic chromosomal alterations on autosomes, X and Y chromosomes: insights from a phenome-wide association study in the UK Biobank.Cell & bioscience · 2021Article
- Evaluation of the usefulness of saliva for mosaic loss of chromosome Y analysis.Scientific reports · 2021Article
- Genetically predicted telomere length is associated with clonal somatic copy number alterations in peripheral leukocytes.PLoS genetics · 2020Article
- Mosaic chromosome Y loss is associated with alterations in blood cell counts in UK Biobank men.Scientific reports · 2020Article
- In utero Exposure to Genotoxicants Leading to Genetic Mosaicism: An Overlooked Window of Susceptibility in Genetic Toxicology Testing?Environmental and molecular mutagenesis · 2020Article
- Mosaicism, aging and cancer.Current opinion in oncology · 2019Review
- Mosaic Y Loss Is Moderately Associated with Solid Tumor Risk.Cancer research · 2019Article
- Predictors of mosaic chromosome Y loss and associations with mortality in the UK Biobank.Scientific reports · 2018Article
- Characterization of breakpoint regions of large structural autosomal mosaic events.Human molecular genetics · 2017Article
- Mosaic chromosome Y loss and testicular germ cell tumor risk.Journal of human genetics · 2017Article
- iPSCs and fibroblast subclones from the same fibroblast population contain comparable levels of sequence variations.Proceedings of the National Academy of Sciences of the United States of America · 2017Article
- Mosaic chromosome 20q deletions are more frequent in the aging population.Blood advances · 2017Article
- The ageing genome, clonal mosaicism and chronic disease.Current opinion in genetics & development · 2017Review
- Practical aspects of NGS-based pathways analysis for personalized cancer science and medicine.Oncotarget · 2016Review
- Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome.Nature communications · 2016Article
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 at 1 institution in 1 country.
Funding
Abstract
Human genetic mosaicism is the presence of two or more cellular populations with distinct genotypes in an individual who developed from a single fertilized ovum. While initially observed across a spectrum of rare genetic disorders, detailed assessment of data from genome-wide association studies now reveal that detectable clonal mosaicism involving large structural alterations (>2 Mb) can also be seen in populations of apparently healthy individuals. The first generation of descriptive studies has generated new interest in understanding the molecular basis of the affected genomic regions, percent of the cellular subpopulation involved, and developmental timing of the underlying mutational event, which could reveal new insights into the initiation, clonal expansion, and phenotypic manifestations of mosaic events. Early evidence indicates detectable clonal mosaicism increases in frequency with age and could preferentially occur in males. The observed pattern of recurrent events affecting specific chromosomal regions indicates some regions are more susceptible to these events, which could reflect inter-individual differences in genomic stability. Moreover, it is also plausible that the presence of large structural events could be associated with cancer risk. The characterization of detectable genetic mosaicism reveals that there could be important dynamic changes in the human genome associated with the aging process, which could be associated with risk for common disorders, such as cancer, cardiovascular disease, diabetes, and neurological disorders.
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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.