Evidence map›Paper›PMID 38548833›Full record

ReviewNature reviews. Genetics2024

Genetic variation across and within individuals.

Zhi Yu, Tim H H Coorens, Md Mesbah Uddin, Kristin G Ardlie, Niall Lennon, Pradeep Natarajan

Abstract readReview
In one paragraph

Review in Nature reviews. Genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
33citing papers in PubMed, 1 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

33 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Article
  3. Review
  4. Article
  5. Article
  6. Review
  7. Hidden immune memory niches in inflammatory skin diseases.bioRxiv : the preprint server for biology · 2026
    Article
  8. Article
  9. Genetic Variation in the Main Cultivar Collection ofCurrent issues in molecular biology · 2026
    Article
  10. Article
  11. Review
  12. Review
  13. Review
  14. Article
  15. Article
  16. Article
  17. Review
  18. Article
  19. Article
  20. Article
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

6 authors.

Zhi Yu *Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID 0000-0003-4810-3474
Tim H H Coorens *Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID 0000-0002-5826-3554
Md Mesbah UddinBroad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID 0000-0003-1846-0411
Kristin G ArdlieBroad Institute of MIT and Harvard, Cambridge, MA, USA.
Niall LennonBroad Institute of MIT and Harvard, Cambridge, MA, USA.
Pradeep NatarajanBroad Institute of MIT and Harvard, Cambridge, MA, USA. pnatarajan@mgh.harvard.edu.ORCID 0000-0001-8402-7435

Funding

Whole Individual Comprehensive KnowlEDge: Somatic Mosaicism across Human Tissues (WICKed SMaHT)UM1DA058235 · NIDA · BROAD INSTITUTE, INC. · PI KRISTIN ARDLIE, Niall John Lennon · 2023 to 2026
$13.8M
Multi-omic dissection of clonal hematopoiesis-associated diseasesK99HG012956 · NHGRI · BROAD INSTITUTE, INC. · PI YU, ZHI · 2023 to 2023
$137k
NHGRI NIH HHS K99 HG012956NIDA NIH HHS UM1 DA058235
6 · The paper itself

Abstract

Germline variation and somatic mutation are intricately connected and together shape human traits and disease risks. Germline variants are present from conception, but they vary between individuals and accumulate over generations. By contrast, somatic mutations accumulate throughout life in a mosaic manner within an individual due to intrinsic and extrinsic sources of mutations and selection pressures acting on cells. Recent advancements, such as improved detection methods and increased resources for association studies, have drastically expanded our ability to investigate germline and somatic genetic variation and compare underlying mutational processes. A better understanding of the similarities and differences in the types, rates and patterns of germline and somatic variants, as well as their interplay, will help elucidate the mechanisms underlying their distinct yet interlinked roles in human health and biology.

Indexed as

Genetic VariationGerm-Line MutationGenetic Predisposition to DiseaseHumansMutation

Identifiers

PMID38548833
PMCPMC11457401

What OpenQuestion holds

Textmetadata
LicenceTDM
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.