Evidence map›Paper›PMID 41062699›Full record

ArticleNature2025

Hotspots of human mutation point to clonal expansions in spermatogonia.

Vladimir Seplyarskiy, Mikhail A Moldovan, Evan Koch, Prathitha Kar, Matthew D C Neville, Raheleh Rahbari, Shamil Sunyaev

Abstract read
In one paragraph

Article in Nature, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.

0numbers the graph read from it
0cells of the map it votes in
14citing papers in PubMed
–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

14 citing papers in PubMed.

  1. Review
  2. Article
  3. Article
  4. Article
  5. Article
  6. Article
  7. Article
  8. Topographical archetypes of somatic mutagenesis in cancer.bioRxiv : the preprint server for biology · 2026
    Article
  9. Integrating 730,947 exome sequences with clinical literature improves gene discovery.medRxiv : the preprint server for health sciences · 2026
    Article
  10. Scalable and comprehensive mosaic variant calling using DRAGEN.medRxiv : the preprint server for health sciences · 2026
    Article
  11. Article
  12. Article
  13. Drivers of systemic male-female allele frequency divergence in humans.bioRxiv : the preprint server for biology · 2026
    Article
  14. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

7 authors.

Vladimir Seplyarskiy *Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA. alicodendrochit@gmail.com.ORCID 0000-0003-3161-8770
Mikhail A Moldovan *Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA. Mikhail_Moldovan@hms.harvard.edu.ORCID 0000-0002-8876-6494
Evan KochDepartment of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.
Prathitha KarDepartment of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.ORCID 0000-0002-4091-6860
Matthew D C NevilleCancer, Ageing and Somatic Mutation, Wellcome Sanger Institute, Hinxton, UK.ORCID 0000-0001-5816-7936
Raheleh RahbariCancer, Ageing and Somatic Mutation, Wellcome Sanger Institute, Hinxton, UK.ORCID 0000-0002-1839-7785
Shamil SunyaevDepartment of Biomedical Informatics, Harvard Medical School, Boston, MA, USA. ssunyaev@hms.harvard.edu.ORCID 0000-0001-5715-5677

Funding

Statistical methods for studies of rare variantsR01MH101244 · NIMH · HARVARD MEDICAL SCHOOL · PI Benjamin Michael Neale, ALKES L PRICE · 2013 to 2026
$9.4M
The origin, the function and the phenotypic impact of human allelesR35GM127131 · NIGMS · HARVARD MEDICAL SCHOOL · PI SHAMIL SUNYAEV · 2018 to 2026
$8.1M
Predicting the impact of genetic variants, genes and pathways on human DiseaseU01HG012009 · NHGRI · BRIGHAM AND WOMEN'S HOSPITAL · PI ALKES L PRICE, Soumya Raychaudhuri · 2021 to 2026
$4.2M
NHGRI NIH HHS U01 HG012009NIGMS NIH HHS R35 GM127131NIMH NIH HHS R01 MH101244
6 · The paper itself

Abstract

In renewing tissues, mutations conferring selective advantage may result in clonal expansions

Indexed as

Clone CellsSpermatogoniaFemaleGain of Function MutationHumansLoss of Function MutationMaleMutation, MissenseMutation Rate

Identifiers

PMID41062699
PMCPMC12714578

What OpenQuestion holds

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Registered trials

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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.