Evidence map›Paper›PMID 36914796›Full record

ArticleNature structural & molecular biology2023

Revisiting mutagenesis at non-B DNA motifs in the human genome.

R J McGinty, S R Sunyaev

Open access · greenAbstract read
In one paragraph

Article in Nature structural & molecular biology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.

0numbers the graph read from it
0cells of the map it votes in
19citing papers in PubMed
3.4field-weighted citation impact, top 7% of its field
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

19 citing papers in PubMed, 22 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Review
  5. Article
  6. Article
  7. Article
  8. Article
  9. Non-canonical DNA in human and other ape telomere-to-telomere genomes.bioRxiv : the preprint server for biology · 2025
    Article
  10. Review
  11. Z-form DNA-RNA hybrid blocks DNA replication.Nucleic acids research · 2025
    Article
  12. Article
  13. Article
  14. Article
  15. Article
  16. Article
  17. Review
  18. Review
  19. 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

2 authors at 1 institution in 1 country.

R J McGintyDepartment of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.
S R SunyaevDepartment of Biomedical Informatics, Harvard Medical School, Boston, MA, USA. ssunyaev@hms.harvard.edu.ORCID 0000-0001-5715-5677
Brigham and Women's Hospital · US

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
Integrated pathogenicity assessment of clinically actionable genetic variantsR01HG010372 · NHGRI · BRIGHAM AND WOMEN'S HOSPITAL · PI CASSA, CHRISTOPHER · 2018 to 2022
$3.5M
NHGRI NIH HHS R01 HG010372NHGRI NIH HHS U01 HG012009NIGMS NIH HHS R35 GM127131NIMH NIH HHS R01 MH101244
6 · The paper itself

Abstract

Non-B DNA structures formed by repetitive sequence motifs are known instigators of mutagenesis in experimental systems. Analyzing this phenomenon computationally in the human genome requires careful disentangling of intrinsic confounding factors, including overlapping and interrupted motifs and recurrent sequencing errors. Here, we show that accounting for these factors eliminates all signals of repeat-induced mutagenesis that extend beyond the motif boundary, and eliminates or dramatically shrinks the magnitude of mutagenesis within some motifs, contradicting previous reports. Mutagenesis not attributable to artifacts revealed several biological mechanisms. Polymerase slippage generates frequent indels within every variety of short tandem repeat motif, implicating slipped-strand structures. Interruption-correcting single nucleotide variants within short tandem repeats may originate from error-prone polymerases. Secondary-structure formation promotes single nucleotide variants within palindromic repeats and duplications within direct repeats. G-quadruplex motifs cause recurrent sequencing errors, whereas mutagenesis at Z-DNAs is conspicuously absent.

Indexed as

DNAGenome, HumanHumansMutagenesisNucleotide MotifsNucleotidesDNANucleotides

Identifiers

PMID36914796
PMCPMC10225297
OpenAlexW4324044759

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.