Student or educator? Sign up with your school email and get 6 months of Pro free.
Cited by 987

The DOI matches its Crossref record; 5 of the 5 references it cites were found in a registry or an index.

The Fine-Scale Structure of Recombination Rate Variation in the Human Genome

McVean, Gilean A. T., Myers, Simon R., Hunt, Sarah, Deloukas, Panos, Bentley, David R., Donnelly, Peter·2004·Science

Abstract

The nature and scale of recombination rate variation are largely unknown for most species. In humans, pedigree analysis has documented variation at the chromosomal level, and sperm studies have identified specific hotspots in which crossing-over events cluster. To address whether this picture is representative of the genome as a whole, we have developed and validated a method for estimating recombination rates from patterns of genetic variation. From extensive single-nucleotide polymorphism surveys in European and African populations, we find evidence for extreme local rate variation spanning four orders in magnitude, in which 50% of all recombination events take place in less than 10% of the sequence. We demonstrate that recombination hotspots are a ubiquitous feature of the human genome, occurring on average every 200 kilobases or less, but recombination occurs preferentially outside genes.

Overview

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

A few free checks a day · papers already verified open instantly · results are public

Integrity signals

Registry

Crossref · 10.1126/science.1092500

Cites

5 of 5 references verified0 citation errors · 0 not checkable

Statistics

Verification

Claims the paper makes

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

A few free checks a day · papers already verified open instantly · results are public

Self-check

Percentages, sums and reported differences re-computed from the paper’s own numbers.

The self-check needs the paper’s full text.

Citations

Cites

Show all 5 references

Research works printed but not linked: 32

  1. 10.1038/ng917 · DOI · Paper page
  2. 10.1086/302011 · DOI · Paper page
  3. A. J. Jeffreys, L. Kauppi, R. Neumann, Nature Genet.29, 217 (2001). · DOI · Paper page
  4. 10.1093/hmg/9.5.725 · DOI
  5. A. J. Jeffreys, J. Murray, R. Neumann, Mol. Cell2, 267 (1998). · DOI
  6. S. Lien, J. Szyda, B. Schechinger, G. Rappold, N. Arnheim, Am. J. Hum. Genet.66, 557 (2000). · DOI
  7. 10.1182/blood.V92.11.4415 · DOI
  8. G. R. Smith, Experientia50, 234 (1994). · DOI
  9. M. J. Daly, J. D. Rioux, S. F. Schaffner, T. J. Hudson, E. S. Lander, Nature Genet.29, 229 (2001). · DOI · Paper page
  10. D. E. Reichet al., Nature Genet.32, 135 (2002). · DOI
  11. D. B. Goldstein, Nature Genet.29, 109 (2001). · DOI · Paper page
  12. 10.1086/321275 · DOI · Paper page
  13. M. P. Stumpf, G. A. McVean, Nature Rev. Genet.4, 959 (2003). · DOI · Paper page
  14. M. Stephens, P. Donnelly, J. R. Stat. Soc. Ser. B (Stat. Method.)62, 605 (2000). · DOI
  15. P. Fearnhead, P. Donnelly, Genetics159, 1299 (2001). · DOI · Paper page
  16. N. Li, M. Stephens, Genetics165, 2213 (2003). · DOI
  17. 10.1093/genetics/159.4.1805 · DOI · Paper page
  18. 10.1038/nature00864 · DOI · Paper page
  19. X. Keet al., Hum. Mol. Genet.13, 577 (2004). · DOI
  20. D. E. Reichet al., Nature411, 199 (2001). · DOI
  21. A. Eyre-Walker, Proc. R. Soc. Lond. B. Biol. Sci.252, 237 (1993). · DOI
  22. A. Nicolas, Proc. Natl. Acad. Sci. U.S.A.95, 87 (1998). · DOI
  23. I. Hellmann, I. Ebersberger, S. E. Ptak, S. Paabo, M. Przeworski, Am. J. Hum. Genet.72, 1527 (2003). · DOI
  24. D. A. Filatov, D. T. Gerrard, Gene317, 67 (2003). · DOI
  25. 10.1038/35057185 · DOI · Paper page
  26. S. M. Fullerton, C. A. Bernardo, A. G. Clark, Mol. Biol. Evol.18, 1139 (2001). · DOI · Paper page
  27. N. Galtier, G. Piganeau, D. Mouchiroud, L. Duret, Genetics159, 907 (2001). · DOI
  28. A. J. Jeffreys, R. Neumann, Nature Genet.31, 267 (2002). · DOI
  29. 10.1086/380311 · DOI
  30. C. F. Aquadro, Curr. Opin. Genet. Dev.7, 835 (1997). · DOI
  31. 10.1126/science.281.5385.1986 · DOI · Paper page
  32. M. Cullenet al., Am. J. Hum. Genet.60, 397 (1997).

Cited by

See all 987

Metadata

Authors
McVean, G. A. T., Myers, S. R., Hunt, S., Deloukas, P., Bentley, D. R., & Donnelly, P.
Venue
Science
Published
2004-04-23
Volume
304
Issue
5670
Pages
581-584
ISSN
  • 0036-8075 (ISSN-L)
  • 1095-9203
OpenAlex
W2111534865
Cited by
987
References
5
FWCI
50.01
Type
journal article
Language
en
Open access
closed

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review

How to cite

Cite CoChat for the checks on this page, and the paper for its own findings.

This page
CoChat. (2026). Citation check: The Fine-Scale Structure of Recombination Rate Variation in the Human Genome. https://app.cochat.ai/papers/10.1126/science.1092500
The paper
McVean, G. A. T., Myers, S. R., Hunt, S., Deloukas, P., Bentley, D. R., & Donnelly, P. (2004). The Fine-Scale Structure of Recombination Rate Variation in the Human Genome. Science. https://doi.org/10.1126/science.1092500

Data sources

Bibliographic data: Semantic Scholar, OpenAlex, Crossref.

Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).

Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.