Inferring admixture histories of human populations using linkage disequilibrium
Open accessAbstract
Long-range migrations and the resulting admixtures between populations have been important forces shaping human genetic diversity. Most existing methods for detecting and reconstructing historical admixture events are based on allele frequency divergences or patterns of ancestry segments in chromosomes of admixed individuals. An emerging new approach harnesses the exponential decay of admixture-induced linkage disequilibrium (LD) as a function of genetic distance. Here, we comprehensively develop LD-based inference into a versatile tool for investigating admixture. We present a new weighted LD statistic that can be used to infer mixture proportions as well as dates with fewer constraints on reference populations than previous methods. We define an LD-based three-population test for admixture and identify scenarios in which it can detect admixture events that previous formal tests cannot. We further show that we can uncover phylogenetic relationships among populations by comparing weighted LD curves obtained using a suite of references. Finally, we describe several improvements to the computation and fitting of weighted LD curves that greatly increase the robustness and speed of the calculations. We implement all of these advances in a software package, ALDER, which we validate in simulations and apply to test for admixture among all populations from the Human Genome Diversity Project (HGDP), highlighting insights into the admixture history of Central African Pygmies, Sardinians, and Japanese.
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Admixture between Levant_N and Iran_ChL occurred around 5,000 ± 1,500 years ago (181 ± 54 generations ago; p = 0.013), with an estimated range of 6,600-3,550 years ago.
“We estimate, using linkage-disequilibrium decay patterns, that admixture occurred 6,600–3,550 years ago, coinciding with recorded massive population movements in Mesopotamia during the mid-Holocene.”
From Continuity and Admixture in the Last Five Millennia of Levantine History from Ancient Canaanite and Present-Day Lebanese Genome Sequences (2017) · cites this paper as [50]
The Results > Case studies section shows that the paper uses weighted linkage-disequilibrium decay to estimate admixture dates. It does not report admixture between Levant_N and Iran_ChL or the claimed date range, 181 ± 54 generations, or p-value. In the citing sentence, “We estimate” presents the date as the citing authors’ result; this source supports the method, not that estimate. (LLM, conf=0.86)
Experimental — accuracy not yet measuredALDER estimated a putative pulse-like admixture event at 24 generations ago (700 years ago), consistent with previous results from Henn and colleagues.
“We then used ALDER40 to estimate the time of a putative pulse-like admixture event, which was estimated to have occurred 24 generations ago (700 years ago), consistent with previous results from Henn and colleagues16.”
From Ancient Egyptian mummy genomes suggest an increase of Sub-Saharan African ancestry in post-Roman periods (2017) · cites this paper as [40]
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- Authors
- Loh, P.-R., Lipson, M., Patterson, N., Moorjani, P., Pickrell, J. K., Reich, D., & Berger, B.
- Affiliations
- Massachusetts Institute of Technology (US)
- Broad Institute (US)
- Harvard University (US)
- Corresponding author
- Reich, David
- Berger, Bonnie
- Venue
- Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 2013-04-01
- Volume
- 193
- Issue
- 4
- Pages
- 1233-1254
- ISSN
- 0016-6731 (ISSN-L)
- 1943-2631
- PMC
- PMC3606100
- OpenAlex
- W2099505530
- Cited by
- 466
- References
- 48
- Citations by year
- 2026: 31 · 2025: 34 · 2024: 36 · 2023: 33 · 2022: 42 · 2021: 42 · 2020: 38 · 2019: 41 · 2018: 42 · 2017: 40 · 2016: 30 · 2015: 26 · 2014: 24 · 2013: 6 · 2012: 1
- FWCI
- 19.02
- 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)
- Digital Access to Scholarship at Harvard (DASH) (Harvard University) (submittedVersion, cc-by)
- DSpace@MIT (Massachusetts Institute of Technology) (submittedVersion, cc-by-nc-sa)
- eScholarship (California Digital Library) (submittedVersion)
- arXiv (Cornell University)
- Funders
- National Human Genome Research Institute (R01HG006399, T32HG004947)
- National Institute of General Medical Sciences (F32GM103098, GM100233, R01GM100233)
- 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 › Genetic Associations and Epidemiology
- Keywords
- linkage disequilibrium, admixture mapping, mixture proportions, population phylogeny, Human Genome Diversity Project, Sardinians, Japanese, human genetic variation
- MeSH terms
- Africa, Central, Humans, Italy, Japan, Models, Genetic, Phylogeny, Population, Software, Linkage Disequilibrium, Population Groups, Human Migration
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