Population Genetics Models of Local Ancestry
Open accessAbstract
Migrations have played an important role in shaping the genetic diversity of human populations. Understanding genomic data thus requires careful modeling of historical gene flow. Here we consider the effect of relatively recent population structure and gene flow and interpret genomes of individuals that have ancestry from multiple source populations as mosaics of segments originating from each population. This article describes general and tractable models for local ancestry patterns with a focus on the length distribution of continuous ancestry tracts and the variance in total ancestry proportions among individuals. The models offer improved agreement with Wright–Fisher simulation data when compared to the state-of-the art and can be used to infer time-dependent migration rates from multiple populations. Considering HapMap African-American (ASW) data, we find that a model with two distinct phases of “European” gene flow significantly improves the modeling of both tract lengths and ancestry variances.
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.
Integrity signals
Registry
Cites
Statistics
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.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
Both the paper's ancestry segments and prior results supported a model with an earlier date of Native American admixture.
“Both our ancestry segments and prior results supported a model with an earlier date of Native American admixture.25,47”
From The genetic ancestry of African Americans, Latinos, and European Americans across the United States (2015) · cites this paper as [47]
The Abstract describes Native American ancestry as an example of a source-population label, but does not date Native American admixture. The Tract lengths section tests admixture models in African-American samples using European and West African reference panels; it does not report prior results supporting an earlier date of Native American admixture. Searches for that date and for Native American admixture timing found no supporting passage. (LLM, conf=0.76)
Experimental — accuracy not yet measured
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Cites
Integrating common and rare genetic variation in diverse human populations
The International HapMap 3 Consortium (2010) · Nature · doi:10.1038/nature09298 · Cited by 3,026 · see citing works
Gutenkunst, R. N., Hernandez, R. D., Williamson, S. H., & Bustamante, C. D. (2009) · PLoS Genetics · doi:10.1371/journal.pgen.1000695 · Cited by 1,906 · see citing works
Reconstructing Indian population history
Reich, D., Thangaraj, K., Patterson, N., Price, A. L., & Singh, L. (2009) · Nature · doi:10.1038/nature08365 · Cited by 1,674 · see citing works
Flagged first, then by citations
Research works printed but not linked: 17
- Bercovici, S., and D. Geiger, 2009 Inferring ancestries efficiently in admixed populations with linkage disequilibrium. J. Comput. Biol. 16(8): 1141-1150.
- Bhatia, G., N. Patterson, B. Pasaniuc, N. Zaitlen, G. Genovese et al., 2011 Genome-wide comparison of African-ancestry popula- tions from CARe and other cohorts reveals signals of natural selection. Am. J. Hum. Genet. 89(3): 368-381.
- Brisbin, A., 2010 Linkage analysis for categorical traits and ancestry assignment in admixed individuals. Ph.D. Thesis, Cornell Uni- versity, Ithaca, NY.
- Ewens, W. J., and R. S. Spielman, 1995 The transmission/disequi- librium test: history, subdivision, and admixture. Am. J. Hum. Genet. 57(2): 455-464.
- Gravel, S., B. M. Henn, R. N. Gutenkunst, A. R. Indap, G. T. Marth et al., 2011 Demographic history and rare allele sharing among human populations. Proc. Natl. Acad. Sci. USA 108 (29): 11983-11988.
- Griffiths, R. C., and P. Marjoram, 1996 Ancestral inference from samples of DNA sequences with recombination. J. Comput. Biol. 3(4): 479-502.
- Henn, B. M., L. R. Botigué, S. Gravel, W. Wang, A. Brisbin et al., 2012 Genomic ancestry of North Africans supports back-to- Africa migrations. PLoS Genet. 8(1): e1002397.
- Myers, S., C. Fefferman, and N. Patterson, 2008 Can one learn history from the allelic spectrum? Theor. Popul. Biol. 73(3): 342-348.
- Patterson, N., N. Hattangadi, B. Lane, K. E. Lohmueller, D. A. Hafler et al., 2004 Methods for high-density admixture mapping of disease genes. Am. J. Hum. Genet. 74(5): 979-1000.
- Price, A. L., A. Tandon, N. Patterson, K. C. Barnes, N. Rafaels et al., 2009 Sensitive detection of chromosomal segments of distinct ancestry in admixed populations. PLoS Genet. 5(6): e1000519.
- Sankararaman, S., S. Sridhar, G. Kimmel, and E. Halperin, 2008 Estimating local ancestry in admixed populations. Am. J. Hum. Genet. 82(2): 290-303.
- Seldin, M. F., B. Pasaniuc, and A. L. Price, 2011 New approaches to disease mapping in admixed populations. Nat. Rev. Genet. 12 (8): 523-528.
- Stewart, W., 1994 Introduction to the Numerical Solution of Mar- kov Chains, Vol. 41. Princeton University Press, Princeton, NJ.
- Tang, H., M. Coram, P. Wang, X. Zhu, and N. Risch, 2006 Reconstructing genetic ancestry blocks in admixed indi- viduals. Am. J. Hum. Genet. 79(1): 1-12.
- Tang, H., S. Choudhry, R. Mei, M. Morgan, W. Rodriguez-Cintron et al., 2007 Recent genetic selection in the ancestral admixture of Puerto Ricans. Am. J. Hum. Genet. 81(3): 626-633.
- Ungerer, M. C., S. J. Baird, J. Pan, and L. H. Rieseberg, 1998 Rapid hybrid speciation in wild sunflowers. Proc. Natl. Acad. Sci. USA 95(20): 11757-11762.
- Wegmann, D., D. E. Kessner, K. R. Veeramah, R. A. Mathias, D. L. Nicolae et al., 2011 Recombination rates in admixed individu- als identified by ancestry-based inference. Nat. Genet. 43(9): 847-853.
Cited by
Sorted by citations
Human Demographic History Impacts Genetic Risk Prediction across Diverse Populations
Martin, A. R., Gignoux, C. R., Walters, R. K., Wojcik, G. L., Neale, B. M., Gravel, S., Daly, M. J., Bustamante, C. D., & Kenny, E. E. (2017) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2017.03.004 · Cited by 1,391 · see citing works
Self-citationThe genomic landscape of Neanderthal ancestry in present-day humans
Sankararaman, S., Mallick, S., Dannemann, M., Prüfer, K., Kelso, J., Pääbo, S., Patterson, N., & Reich, D. (2014) · Nature · doi:10.1038/nature12961 · Cited by 1,107 · see citing works
The genetic ancestry of African Americans, Latinos, and European Americans across the United States
Bryc, K., Durand, E. Y., Macpherson, J. M., Reich, D., & Mountain, J. L. (2015) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2014.11.010 · Cited by 712 · see citing works
Evidence for archaic adaptive introgression in humans
Racimo, F., Sankararaman, S., Nielsen, R., & Huerta-Sánchez, E. (2015) · Nature Reviews Genetics · doi:10.1038/nrg3936 · Cited by 521 · see citing works
Natural selection interacts with recombination to shape the evolution of hybrid genomes
Schumer, M., Xu, C., Powell, D. L., Durvasula, A., Skov, L., Holland, C., Blazier, J. C., Sankararaman, S., Andolfatto, P., Rosenthal, G. G., et al. (2018) · Science · doi:10.1126/science.aar3684 · Cited by 412 · see citing works
Inferring admixture histories of human populations using linkage disequilibrium
Loh, P.-R., Lipson, M., Patterson, N., Moorjani, P., Pickrell, J. K., Reich, D., & Berger, B. (2013) · Genetics · doi:10.1534/genetics.112.147330 · Cited by 466 · see citing works
Population genomics reveal recent speciation and rapid evolutionary adaptation in polar bears
Liu, S., Lorenzen, E. D., Fumagalli, M., Li, B., Harris, K., Xiong, Z., Zhou, L., Korneliussen, T. S., Somel, M., Babbitt, C., et al. (2014) · Cell · doi:10.1016/j.cell.2014.03.054 · Cited by 411 · see citing works
Multiple Deeply Divergent Denisovan Ancestries in Papuans
Jacobs, G. S., Hudjashov, G., Saag, L., Kusuma, P., Darusallam, C. C., Lawson, D. J., Mondal, M., Pagani, L., Ricaut, F.-X., Stoneking, M., et al. (2019) · Cell · doi:10.1016/j.cell.2019.02.035 · Cited by 346 · see citing works
Reconstructing the population genetic history of the Caribbean
Moreno-Estrada, A., Gravel, S., Zakharia, F., McCauley, J. L., Byrnes, J. K., Gignoux, C. R., Ortiz-Tello, P. A., Martínez, R. J., Hedges, D. J., Morris, R. W., et al. (2013) · PLoS Genetics · doi:10.1371/journal.pgen.1003925 · Cited by 327 · see citing works
Self-citationGenomic structure in Europeans dating back at least 36,200 years
Seguin-Orlando, A., Korneliussen, T. S., Sikora, M., Malaspinas, A.-S., Manica, A., Moltke, I., Albrechtsen, A., Ko, A., Margaryan, A., Moiseyev, V., et al. (2014) · Science · doi:10.1126/science.aaa0114 · Cited by 315 · see citing works
Speciation and introgression between Mimulus nasutus and Mimulus guttatus
Brandvain, Y., Kenney, A. M., Flagel, L., Coop, G., & Sweigart, A. L. (2014) · PLoS Genetics · doi:10.1371/journal.pgen.1004410 · Cited by 259 · see citing works
Gene flow from North Africa contributes to differential human genetic diversity in southern Europe
Botigué, L. R., Henn, B. M., Gravel, S., Maples, B. K., Gignoux, C. R., Corona, E., Atzmon, G., Burns, E., Ostrer, H., Flores, C., et al. (2013) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1306223110 · Cited by 199 · see citing works
Self-citationGenomic insights into population history and biological adaptation in Oceania
Choin, J., Mendoza-Revilla, J., Arauna, L. R., Cuadros-Espinoza, S., Cassar, O., Larena, M., Ko, A. M.-S., Harmant, C., Laurent, R., Verdu, P., et al. (2021) · Nature · doi:10.1038/s41586-021-03236-5 · Cited by 208 · see citing works
Native American gene flow into Polynesia predating Easter Island settlement
Ioannidis, A. G., Blanco-Portillo, J., Sandoval, K., Hagelberg, E., Miquel-Poblete, J. F., Moreno-Mayar, J. V., Rodríguez-Rodríguez, J. E., Quinto-Cortés, C. D., Auckland, K., Parks, T., et al. (2020) · Nature · doi:10.1038/s41586-020-2487-2 · Cited by 196 · see citing works
Hsieh, P., Woerner, A. E., Wall, J. D., Lachance, J., Tishkoff, S. A., Gutenkunst, R. N., & Hammer, M. F. (2016) · Genome Research · doi:10.1101/gr.196634.115 · Cited by 105 · see citing works
Kidd, J. M., Gravel, S., Byrnes, J., Moreno-Estrada, A., Musharoff, S., Bryc, K., Degenhardt, J. D., Brisbin, A., Sheth, V., Chen, R., et al. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2012.08.025 · Cited by 95 · see citing works
Self-citationGenome-wide Ancestry Patterns in Rapanui Suggest Pre-European Admixture with Native Americans
Moreno-Mayar, J. V., Rasmussen, S., Seguin-Orlando, A., Rasmussen, M., Liang, M., Flåm, S. T., Lie, B. A., Gilfillan, G. D., Nielsen, R., Thorsby, E., et al. (2014) · Current Biology · doi:10.1016/j.cub.2014.09.057 · Cited by 74 · see citing works
Signatures of archaic adaptive introgression in present-day human populations
Racimo, F., Marnetto, D., & Huerta-Sánchez, E. (2016) · doi:10.1101/045237 · Cited by 200 · see citing works
Recent admixture between species of the fungal pathogen<i>Histoplasma</i>
Maxwell, C. S., Sepulveda, V. E., Turissini, D. A., Goldman, W. E., & Matute, D. R. (2018) · Evolution Letters · doi:10.1002/evl3.59 · Cited by 35 · see citing works
Population Genetic Structure and Origins of Native Hawaiians in the Multiethnic Cohort Study
Kim, S. K., Gignoux, C. R., Wall, J. D., Lum-Jones, A., Wang, H., Haiman, C. A., Chen, G. K., Henderson, B. E., Kolonel, L. N., Le Marchand, L., et al. (2012) · PLoS ONE · doi:10.1371/journal.pone.0047881 · Cited by 23 · see citing works
“the admixture events [56] such analysis may be confounded by overfit models.”
BackgroundAncient Rapanui genomes reveal resilience and pre-European contact with the Americas
Moreno-Mayar, J. V., Sousa da Mota, B., Higham, T., Klemm, S., Gorman Edmunds, M., Stenderup, J., Iraeta-Orbegozo, M., Laborde, V., Heyer, E., Torres Hochstetter, F., et al. (2024) · Nature · doi:10.1038/s41586-024-07881-4 · Cited by 20 · see citing works
“We obtained tract length distributions per ancestry and used tracts 61 to estimate an admixture date for the joint 15 Ancient Rapanui individuals.”
- Authors
- Gravel, S.
- Affiliations
- Stanford University (US)
- Corresponding author
- Gravel, Simon
- ORCID
- Gravel, Simon
- Venue
- Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 2012-06-01
- Volume
- 191
- Issue
- 2
- Pages
- 607-619
- ISSN
- 0016-6731 (ISSN-L)
- 1943-2631
- PMC
- PMC3374321
- OpenAlex
- W2154940281
- Cited by
- 311
- References
- 3
- Citations by year
- 2026: 17 · 2025: 17 · 2024: 10 · 2023: 17 · 2022: 51 · 2021: 23 · 2020: 24 · 2019: 27 · 2018: 30 · 2017: 14 · 2016: 18 · 2015: 19 · 2014: 23 · 2013: 16 · 2012: 5
- FWCI
- 11.95
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- academic.oup.com/journals/pages/open_access/funder_policies/chorus/standard_publication_model (vor)
- Locations
- Genetics (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- arXiv (Cornell University) (submittedVersion)
- arXiv (Cornell University)
- Funders
- National Institutes of Health
- National Human Genome Research Institute (U01HG005715)
- National Institute of General Medical Sciences (R01GM090087)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic diversity and population structure
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Race, Genetics, and Society
- Keywords
- local ancestry, population structure, gene flow, migration rate, population genetic models
- MeSH terms
- Algorithms, Black or African American, Computer Simulation, Humans, Models, Genetic, Population Dynamics, White People, Gene Flow, HapMap Project
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