IDEAS home Printed from https://ideas.repec.org/a/eee/thpobi/v160y2024icp49-61.html
   My bibliography  Save this article

An almost infinite sites model

Author

Listed:
  • Avalos-Pacheco, Alejandra
  • Cronjäger, Mathias C.
  • Jenkins, Paul A.
  • Hein, Jotun

Abstract

A main challenge in molecular evolution is to find computationally efficient mutation models with flexible assumptions that properly reflect genetic variation. The infinite sites model assumes that each mutation event occurs at a site never previously mutant, i.e. it does not allow recurrent mutations. This is reasonable for low mutation rates and makes statistical inference much more tractable. However, recurrent mutations are common enough to be observable from genetic variation data, even in species with low per-site mutation rates such as humans. The finite sites model on the other hand allows for recurrent mutations but is computationally unfeasible to work with in most cases. In this work, we bridge these two approaches by developing a novel molecular evolution model, the almost infinite sites model, that both admits recurrent mutations and is tractable. We provide a recursive characterization of the likelihood of our proposed model under complete linkage and outline a parsimonious approximation scheme for computing it.

Suggested Citation

  • Avalos-Pacheco, Alejandra & Cronjäger, Mathias C. & Jenkins, Paul A. & Hein, Jotun, 2024. "An almost infinite sites model," Theoretical Population Biology, Elsevier, vol. 160(C), pages 49-61.
  • Handle: RePEc:eee:thpobi:v:160:y:2024:i:c:p:49-61
    DOI: 10.1016/j.tpb.2024.10.001
    as

    Download full text from publisher

    File URL: http://www.sciencedirect.com/science/article/pii/S0040580924000935
    Download Restriction: Full text for ScienceDirect subscribers only

    File URL: https://libkey.io/10.1016/j.tpb.2024.10.001?utm_source=ideas
    LibKey link: if access is restricted and if your library uses this service, LibKey will redirect you to where you can use your library subscription to access this item
    ---><---

    As the access to this document is restricted, you may want to search for a different version of it.

    References listed on IDEAS

    as
    1. Ferretti, Luca & Klassmann, Alexander & Raineri, Emanuele & Ramos-Onsins, Sebastián E. & Wiehe, Thomas & Achaz, Guillaume, 2018. "The neutral frequency spectrum of linked sites," Theoretical Population Biology, Elsevier, vol. 123(C), pages 70-79.
    2. Hobolth, Asger & Wiuf, Carsten, 2009. "The genealogy, site frequency spectrum and ages of two nested mutant alleles," Theoretical Population Biology, Elsevier, vol. 75(4), pages 260-265.
    3. Matthew Stephens & Peter Donnelly, 2000. "Inference in molecular population genetics," Journal of the Royal Statistical Society Series B, Royal Statistical Society, vol. 62(4), pages 605-635.
    4. Jenkins, Paul A. & Song, Yun S., 2011. "The effect of recurrent mutation on the frequency spectrum of a segregating site and the age of an allele," Theoretical Population Biology, Elsevier, vol. 80(2), pages 158-173.
    5. Hobolth Asger & Uyenoyama Marcy K & Wiuf Carsten, 2008. "Importance Sampling for the Infinite Sites Model," Statistical Applications in Genetics and Molecular Biology, De Gruyter, vol. 7(1), pages 1-26, October.
    Full references (including those not matched with items on IDEAS)

    Most related items

    These are the items that most often cite the same works as this one and are cited by the same works as this one.
    1. Birkner, Matthias & Blath, Jochen & Steinrücken, Matthias, 2011. "Importance sampling for Lambda-coalescents in the infinitely many sites model," Theoretical Population Biology, Elsevier, vol. 79(4), pages 155-173.
    2. Ferretti, Luca & Klassmann, Alexander & Raineri, Emanuele & Ramos-Onsins, Sebastián E. & Wiehe, Thomas & Achaz, Guillaume, 2018. "The neutral frequency spectrum of linked sites," Theoretical Population Biology, Elsevier, vol. 123(C), pages 70-79.
    3. Uyenoyama, Marcy K. & Takebayashi, Naoki & Kumagai, Seiji, 2020. "Allele frequency spectra in structured populations: Novel-allele probabilities under the labelled coalescent," Theoretical Population Biology, Elsevier, vol. 133(C), pages 130-140.
    4. Ganapathy, Ganeshkumar & Uyenoyama, Marcy K., 2009. "Site frequency spectra from genomic SNP surveys," Theoretical Population Biology, Elsevier, vol. 75(4), pages 346-354.
    5. Hayman, Elizabeth & Ignatieva, Anastasia & Hein, Jotun, 2023. "Recoverability of ancestral recombination graph topologies," Theoretical Population Biology, Elsevier, vol. 154(C), pages 27-39.
    6. Merle, C. & Leblois, R. & Rousset, F. & Pudlo, P., 2017. "Resampling: An improvement of importance sampling in varying population size models," Theoretical Population Biology, Elsevier, vol. 114(C), pages 70-87.
    7. Jenkins Paul A., 2012. "Stopping-Time Resampling and Population Genetic Inference under Coalescent Models," Statistical Applications in Genetics and Molecular Biology, De Gruyter, vol. 11(1), pages 1-20, January.
    8. Mikula, Lynette Caitlin & Vogl, Claus, 2024. "The expected sample allele frequencies from populations of changing size via orthogonal polynomials," Theoretical Population Biology, Elsevier, vol. 157(C), pages 55-85.
    9. Griffiths, Robert C. & Tavaré, Simon, 2018. "Ancestral inference from haplotypes and mutations," Theoretical Population Biology, Elsevier, vol. 122(C), pages 12-21.
    10. repec:plo:pgen00:1000078 is not listed on IDEAS
    11. Sainudiin, Raazesh & Véber, Amandine, 2018. "Full likelihood inference from the site frequency spectrum based on the optimal tree resolution," Theoretical Population Biology, Elsevier, vol. 124(C), pages 1-15.
    12. Steinrücken, Matthias & Paul, Joshua S. & Song, Yun S., 2013. "A sequentially Markov conditional sampling distribution for structured populations with migration and recombination," Theoretical Population Biology, Elsevier, vol. 87(C), pages 51-61.
    13. Ralph, Peter L., 2019. "An empirical approach to demographic inference with genomic data," Theoretical Population Biology, Elsevier, vol. 127(C), pages 91-101.
    14. Jenkins, Paul A. & Song, Yun S., 2011. "The effect of recurrent mutation on the frequency spectrum of a segregating site and the age of an allele," Theoretical Population Biology, Elsevier, vol. 80(2), pages 158-173.
    15. Larribe Fabrice & Lessard Sabin, 2008. "A Composite-Conditional-Likelihood Approach for Gene Mapping Based on Linkage Disequilibrium in Windows of Marker Loci," Statistical Applications in Genetics and Molecular Biology, De Gruyter, vol. 7(1), pages 1-33, August.
    16. Blath, Jochen & Buzzoni, Eugenio & Koskela, Jere & Wilke Berenguer, Maite, 2020. "Statistical tools for seed bank detection," Theoretical Population Biology, Elsevier, vol. 132(C), pages 1-15.
    17. Hobolth, Asger & Wiuf, Carsten, 2009. "The genealogy, site frequency spectrum and ages of two nested mutant alleles," Theoretical Population Biology, Elsevier, vol. 75(4), pages 260-265.
    18. Klassmann, A. & Ferretti, L., 2018. "The third moments of the site frequency spectrum," Theoretical Population Biology, Elsevier, vol. 120(C), pages 16-28.
    19. Hössjer Ola & Hartman Linda & Humphreys Keith, 2009. "Ancestral Recombination Graphs under Non-Random Ascertainment, with Applications to Gene Mapping," Statistical Applications in Genetics and Molecular Biology, De Gruyter, vol. 8(1), pages 1-46, September.
    20. Vogl, Claus & Mikula, Lynette C. & Burden, Conrad J., 2020. "Maximum likelihood estimators for scaled mutation rates in an equilibrium mutation–drift model," Theoretical Population Biology, Elsevier, vol. 134(C), pages 106-118.
    21. Johndrow, James E. & Palacios, Julia A., 2019. "Exact limits of inference in coalescent models," Theoretical Population Biology, Elsevier, vol. 125(C), pages 75-93.

    Corrections

    All material on this site has been provided by the respective publishers and authors. You can help correct errors and omissions. When requesting a correction, please mention this item's handle: RePEc:eee:thpobi:v:160:y:2024:i:c:p:49-61. See general information about how to correct material in RePEc.

    If you have authored this item and are not yet registered with RePEc, we encourage you to do it here. This allows to link your profile to this item. It also allows you to accept potential citations to this item that we are uncertain about.

    If CitEc recognized a bibliographic reference but did not link an item in RePEc to it, you can help with this form .

    If you know of missing items citing this one, you can help us creating those links by adding the relevant references in the same way as above, for each refering item. If you are a registered author of this item, you may also want to check the "citations" tab in your RePEc Author Service profile, as there may be some citations waiting for confirmation.

    For technical questions regarding this item, or to correct its authors, title, abstract, bibliographic or download information, contact: Catherine Liu (email available below). General contact details of provider: https://www.sciencedirect.com/journal/theoretical-population-biology .

    Please note that corrections may take a couple of weeks to filter through the various RePEc services.

    IDEAS is a RePEc service. RePEc uses bibliographic data supplied by the respective publishers.