Skip to main content
Genetics logoLink to Genetics
. 2001 Nov;159(3):1299–1318. doi: 10.1093/genetics/159.3.1299

Estimating recombination rates from population genetic data.

P Fearnhead 1, P Donnelly 1
PMCID: PMC1461855  PMID: 11729171

Abstract

We introduce a new method for estimating recombination rates from population genetic data. The method uses a computationally intensive statistical procedure (importance sampling) to calculate the likelihood under a coalescent-based model. Detailed comparisons of the new algorithm with two existing methods (the importance sampling method of Griffiths and Marjoram and the MCMC method of Kuhner and colleagues) show it to be substantially more efficient. (The improvement over the existing importance sampling scheme is typically by four orders of magnitude.) The existing approaches not infrequently led to misleading results on the problems we investigated. We also performed a simulation study to look at the properties of the maximum-likelihood estimator of the recombination rate and its robustness to misspecification of the demographic model.

Full Text

The Full Text of this article is available as a PDF (263.0 KB).

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Andolfatto P., Przeworski M. A genome-wide departure from the standard neutral model in natural populations of Drosophila. Genetics. 2000 Sep;156(1):257–268. doi: 10.1093/genetics/156.1.257. [DOI] [PMC free article] [PubMed] [Google Scholar]
  2. Beaumont M. A. Detecting population expansion and decline using microsatellites. Genetics. 1999 Dec;153(4):2013–2029. doi: 10.1093/genetics/153.4.2013. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. Beerli P., Felsenstein J. Maximum-likelihood estimation of migration rates and effective population numbers in two populations using a coalescent approach. Genetics. 1999 Jun;152(2):763–773. doi: 10.1093/genetics/152.2.763. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. Donnelly P., Tavaré S. Coalescents and genealogical structure under neutrality. Annu Rev Genet. 1995;29:401–421. doi: 10.1146/annurev.ge.29.120195.002153. [DOI] [PubMed] [Google Scholar]
  5. Feil E. J., Maiden M. C., Achtman M., Spratt B. G. The relative contributions of recombination and mutation to the divergence of clones of Neisseria meningitidis. Mol Biol Evol. 1999 Nov;16(11):1496–1502. doi: 10.1093/oxfordjournals.molbev.a026061. [DOI] [PubMed] [Google Scholar]
  6. Griffiths R. C., Marjoram P. Ancestral inference from samples of DNA sequences with recombination. J Comput Biol. 1996 Winter;3(4):479–502. doi: 10.1089/cmb.1996.3.479. [DOI] [PubMed] [Google Scholar]
  7. Griffiths R. C., Tavaré S. Sampling theory for neutral alleles in a varying environment. Philos Trans R Soc Lond B Biol Sci. 1994 Jun 29;344(1310):403–410. doi: 10.1098/rstb.1994.0079. [DOI] [PubMed] [Google Scholar]
  8. Harding R. M., Fullerton S. M., Griffiths R. C., Bond J., Cox M. J., Schneider J. A., Moulin D. S., Clegg J. B. Archaic African and Asian lineages in the genetic ancestry of modern humans. Am J Hum Genet. 1997 Apr;60(4):772–789. [PMC free article] [PubMed] [Google Scholar]
  9. Hudson R. R. Estimating the recombination parameter of a finite population model without selection. Genet Res. 1987 Dec;50(3):245–250. doi: 10.1017/s0016672300023776. [DOI] [PubMed] [Google Scholar]
  10. Hudson R. R., Kaplan N. L. Statistical properties of the number of recombination events in the history of a sample of DNA sequences. Genetics. 1985 Sep;111(1):147–164. doi: 10.1093/genetics/111.1.147. [DOI] [PMC free article] [PubMed] [Google Scholar]
  11. Hudson R. R. Properties of a neutral allele model with intragenic recombination. Theor Popul Biol. 1983 Apr;23(2):183–201. doi: 10.1016/0040-5809(83)90013-8. [DOI] [PubMed] [Google Scholar]
  12. Hudson R. R., Slatkin M., Maddison W. P. Estimation of levels of gene flow from DNA sequence data. Genetics. 1992 Oct;132(2):583–589. doi: 10.1093/genetics/132.2.583. [DOI] [PMC free article] [PubMed] [Google Scholar]
  13. Kaplan N., Hudson R. R. The use of sample genealogies for studying a selectively neutral m-loci model with recombination. Theor Popul Biol. 1985 Dec;28(3):382–396. doi: 10.1016/0040-5809(85)90036-x. [DOI] [PubMed] [Google Scholar]
  14. Kruglyak L. Prospects for whole-genome linkage disequilibrium mapping of common disease genes. Nat Genet. 1999 Jun;22(2):139–144. doi: 10.1038/9642. [DOI] [PubMed] [Google Scholar]
  15. Kuhner M. K., Yamato J., Felsenstein J. Estimating effective population size and mutation rate from sequence data using Metropolis-Hastings sampling. Genetics. 1995 Aug;140(4):1421–1430. doi: 10.1093/genetics/140.4.1421. [DOI] [PMC free article] [PubMed] [Google Scholar]
  16. Kuhner M. K., Yamato J., Felsenstein J. Maximum likelihood estimation of population growth rates based on the coalescent. Genetics. 1998 May;149(1):429–434. doi: 10.1093/genetics/149.1.429. [DOI] [PMC free article] [PubMed] [Google Scholar]
  17. Kuhner M. K., Yamato J., Felsenstein J. Maximum likelihood estimation of recombination rates from population data. Genetics. 2000 Nov;156(3):1393–1401. doi: 10.1093/genetics/156.3.1393. [DOI] [PMC free article] [PubMed] [Google Scholar]
  18. Rogers A. R., Jorde L. B. Genetic evidence on modern human origins. Hum Biol. 1995 Feb;67(1):1–36. [PubMed] [Google Scholar]
  19. Sherry S. T., Rogers A. R., Harpending H., Soodyall H., Jenkins T., Stoneking M. Mismatch distributions of mtDNA reveal recent human population expansions. Hum Biol. 1994 Oct;66(5):761–775. [PubMed] [Google Scholar]
  20. Tavaré S., Balding D. J., Griffiths R. C., Donnelly P. Inferring coalescence times from DNA sequence data. Genetics. 1997 Feb;145(2):505–518. doi: 10.1093/genetics/145.2.505. [DOI] [PMC free article] [PubMed] [Google Scholar]
  21. Wakeley J. Using the variance of pairwise differences to estimate the recombination rate. Genet Res. 1997 Feb;69(1):45–48. doi: 10.1017/s0016672396002571. [DOI] [PubMed] [Google Scholar]
  22. Wall J. D. A comparison of estimators of the population recombination rate. Mol Biol Evol. 2000 Jan;17(1):156–163. doi: 10.1093/oxfordjournals.molbev.a026228. [DOI] [PubMed] [Google Scholar]
  23. Wilson I. J., Balding D. J. Genealogical inference from microsatellite data. Genetics. 1998 Sep;150(1):499–510. doi: 10.1093/genetics/150.1.499. [DOI] [PMC free article] [PubMed] [Google Scholar]

Articles from Genetics are provided here courtesy of Oxford University Press

RESOURCES