Evidence map›Paper›PMID 23410830›Full record

ArticleGenetics2013

Inferring admixture histories of human populations using linkage disequilibrium.

Po-Ru Loh, Mark Lipson, Nick Patterson, Priya Moorjani, Joseph K Pickrell, David Reich, Bonnie Berger

Abstract read
In one paragraph

Article in Genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 299 papers.

0numbers the graph read from it
0cells of the map it votes in
299citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

299 citing papers in PubMed.

  1. Genomic evidence for shared common ancestry of East African hunting-gathering populations and insights into local adaptation.Proceedings of the National Academy of Sciences of the United States of America · 2019
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  4. High-coverage ancient genomes reveal divergent population histories and prehistoric starch-related genetic variation in Japan.Proceedings of the National Academy of Sciences of the United States of America · 2026
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239 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

7 authors.

Po-Ru LohDepartment of Mathematics and Computer Science and Artificial Intelligence Laboratory, Massachusetts Institute of Technology, Cambridge, MA 02139, USA.
Mark Lipson
Nick Patterson
Priya Moorjani
Joseph K Pickrell
David Reich
Bonnie Berger

Funding

Methods for Genome-wide Association Studies in Admixed PopulationsR01HG006399 · NHGRI · HARVARD UNIVERSITY D/B/A HARVARD SCHOOL OF PUBLIC HEALTH · PI PRICE, ALKES L · 2011 to 2024
$6.3M
Population mixture in evolutionary and medical geneticsR01GM100233 · NIGMS · HARVARD MEDICAL SCHOOL · PI PATTERSON, NICK J, REICH, DAVID E · 2012 to 2019
$2.7M
MIT/Whitehead/Broad Computational Genetics Training ProgramT32HG004947 · NHGRI · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI GIFFORD, DAVID K · 2009 to 2015
$957k
Population genetics methods for inference of ancestry and association mapping inF32GM103098 · NIGMS · HARVARD MEDICAL SCHOOL · PI PICKRELL, JOSEPH · 2012 to 2013
$65k
NHGRI NIH HHS 5T32HG004947-04NHGRI NIH HHS R01 HG006399NHGRI NIH HHS T32 HG004947NIGMS NIH HHS F32 GM103098NIGMS NIH HHS GM100233NIGMS NIH HHS R01 GM100233
6 · The paper itself

Abstract

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.

Indexed as

Linkage DisequilibriumSoftwareAfrica, CentralHuman MigrationHumansItalyJapanModels, GeneticPhylogenyPopulationPopulation Groups

Identifiers

PMID23410830
PMCPMC3606100

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.