Evidence map›Paper›PMID 35031571›Full record

ArticleGenome research2022

De novo mutation rates at the single-mutation resolution in a human

Daniel Melamed, Yuval Nov, Assaf Malik, Michael B Yakass, Evgeni Bolotin, Revital Shemer, Edem K Hiadzi, Karl L Skorecki, Adi Livnat

Open access · bronzeAbstract read
In one paragraph

Article in Genome research, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.

0numbers the graph read from it
0cells of the map it votes in
12citing 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

12 citing papers in PubMed, 28 citations in OpenAlex.

  1. Article
  2. Observational
  3. Review
  4. De novo rates of aProceedings of the National Academy of Sciences of the United States of America · 2025
    Article
  5. Review
  6. The Evolutionary Interplay of Somatic and Germline Mutation Rates.Annual review of biomedical data science · 2024
    Review
  7. Stochasticity in genetics and gene regulation.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2024
    Review
  8. Article
  9. Review
  10. Article
  11. Review
  12. Review
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

9 authors at 5 institutions in 3 countries.

Daniel MelamedDepartment of Evolutionary and Environmental Biology, University of Haifa, Haifa 3498838, Israel.
Yuval NovDepartment of Statistics, University of Haifa, Haifa 3498838, Israel.
Assaf MalikBioinformatics Unit, Faculty of Natural Sciences, University of Haifa, Haifa 3498838, Israel.
Michael B YakassWest African Centre for Cell Biology of Infectious Pathogens (WACCBIP), Department of Biochemistry, Cell and Molecular Biology, University of Ghana, Legon-Accra 00233, Ghana.
Evgeni BolotinDepartment of Evolutionary and Environmental Biology, University of Haifa, Haifa 3498838, Israel.
Revital ShemerThe Ruth and Bruce Rappaport Faculty of Medicine and Research Institute, Technion-Israel Institute of Technology, Haifa 3525433, Israel.
Edem K HiadziAssisted Conception Unit, Lister Hospital and Fertility Centre, Accra CT966, Ghana.
Karl L SkoreckiThe Azrieli Faculty of Medicine, Bar-Ilan University, Safed 1311502, Israel.
Adi LivnatDepartment of Evolutionary and Environmental Biology, University of Haifa, Haifa 3498838, Israel.
University of Haifa · ILBar-Ilan University · ILLister Hospital · GBTechnion – Israel Institute of Technology · ILUniversity of Ghana · GH

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Although it is known that the mutation rate varies across the genome, previous estimates were based on averaging across various numbers of positions. Here, we describe a method to measure the origination rates of target mutations at target base positions and apply it to a 6-bp region in the human hemoglobin subunit beta (

Indexed as

beta-Globinsbeta-ThalassemiaHeterozygoteHumansMutationMutation Ratebeta-Globins

Identifiers

PMID35031571
PMCPMC8896469
OpenAlexW4220691904

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.