Evidence map›Paper›PMID 27941868›Full record

ReviewNature reviews. Genetics2017

Mosaicism in health and disease - clones picking up speed.

Lars A Forsberg, David Gisselsson, Jan P Dumanski

Abstract readReview
PubMed Publisher
In one paragraph

Review in Nature reviews. Genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 160 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
160citing papers in PubMed, 2 pooled it
–field-weighted citation impact
1 · What the graph read from 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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

160 citing papers in PubMed, 2 syntheses or guidelines pooled it.

  1. Pooled it
  2. Mosaic Chromosomal Alterations and Human Longevity.The journals of gerontology. Series A, Biological sciences and medical sciences · 2023
    Pooled it
  3. Mosaic loss of Y chromosome associates with lung function, emphysema, and epigenetic aging.American journal of respiratory and critical care medicine · 2026
    Article
  4. Article
  5. Article
  6. Article
  7. Review
  8. A canineProceedings of the National Academy of Sciences of the United States of America · 2026
    Article
  9. Article
  10. Article
  11. Review
  12. Article
  13. Article
  14. Article
  15. Review
  16. Article
  17. Article
  18. Clonal effects of thebioRxiv : the preprint server for biology · 2025
    Article
  19. Review
  20. Article

100 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

3 authors.

Lars A ForsbergDepartment of Immunology, Genetics and Pathology, Uppsala University, Uppsala SE-75108, Sweden.
David GisselssonDepartments of Clinical Genetics and Oncology-Pathology, Skåne Regional and University Laboratories, Lund University, Lund SE-22184, Sweden.
Jan P DumanskiDepartment of Immunology, Genetics and Pathology, Uppsala University, Uppsala SE-75108, Sweden.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Post-zygotic variation refers to genetic changes that arise in the soma of an individual and that are not usually inherited by the next generation. Although there is a paucity of research on such variation, emerging studies show that it is common: individuals are complex mosaics of genetically distinct cells, to such an extent that no two somatic cells are likely to have the exact same genome. Although most types of mutation can be involved in post-zygotic variation, structural genetic variants are likely to leave the largest genomic footprint. Somatic variation has diverse physiological roles and pathological consequences, particularly when acquired variants influence the clonal trajectories of the affected cells. Post-zygotic variation is an important confounder in medical genetic testing and a promising avenue for research: future studies could involve analyses of sorted and single cells from multiple tissue types to fully explore its potential.

Indexed as

Genetic Predisposition to DiseaseGenome, HumanMosaicismDiseaseGene-Environment InteractionGenetic VariationGenomicsHumansMutationPhenotypeZygote

Identifiers

PMID27941868

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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.