Evidence map›Paper›PMID 20221249›Full record

ArticlePLoS genetics2010

Rapid assessment of genetic ancestry in populations of unknown origin by genome-wide genotyping of pooled samples.

Charleston W K Chiang, Zofia K Z Gajdos, Joshua M Korn, Finny G Kuruvilla, Johannah L Butler, Rachel Hackett, Candace Guiducci, Thutrang T Nguyen, Rainford Wilks, Terrence Forrester and 10 more

Abstract read
In one paragraph

Article in PLoS genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers.

0numbers the graph read from it
0cells of the map it votes in
37citing 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

37 citing papers in PubMed.

  1. Use of Cluster Analysis for Identifying Metafounders.Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie · 2026
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  3. The Effect of Continuous Selection in KiwiCrossAnimals : an open access journal from MDPI · 2025
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  5. Definition of metafounders based on population structure analysis.Genetics, selection, evolution : GSE · 2024
    Article
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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

20 authors.

Charleston W K ChiangDepartment of Genetics, Harvard Medical School, Boston, Massachusetts, United States of America.
Zofia K Z Gajdos
Joshua M Korn
Finny G Kuruvilla
Johannah L Butler
Rachel Hackett
Candace Guiducci
Thutrang T Nguyen
Rainford Wilks
Terrence Forrester
Christopher A Haiman
Katherine D Henderson
Loic Le Marchand
Brian E Henderson
Mark R Palmert
Colin A McKenzie
Helen N Lyon
Richard S Cooper
Xiaofeng Zhu
Joel N Hirschhorn

Funding

Cell Interactions in the Inflamed Intestinal MucosaR01DK075787 · NIDDK · BOSTON CHILDREN'S HOSPITAL · PI JOEL N HIRSCHHORN · 2007 to 2026
$13.1M
GENETICS OF HYPERTENSION IN BLACKSR01HL053353 · NHLBI · LOYOLA UNIVERSITY CHICAGO · PI COOPER, RICHARD STANLEY · 1995 to 2013
$8.3M
HYPERTENSION IN POPULATIONS OF WEST AFRICAN ORIGINR37HL045508 · NHLBI · LOYOLA UNIVERSITY CHICAGO · PI COOPER, RICHARD STANLEY · 1998 to 2008
$3.3M
Defining an Obesity QTL on Chromosome 3qR01HL074166 · NHLBI · LOYOLA UNIVERSITY CHICAGO · PI ZHU, XIAOFENG · 2004 to 2007
$2.9M
Genetic Factors that Regulate the Onset of PubertyR01HD048960 · NICHD · HOSPITAL FOR SICK CHLDRN (TORONTO) · PI PALMERT, MARK R · 2005 to 2009
$1.9M
NHLBI NIH HHS R01 HL053353NHLBI NIH HHS R01 HL074166NHLBI NIH HHS R01HL074166NHLBI NIH HHS R01HL53353NHLBI NIH HHS R37 HL045508NHLBI NIH HHS R37HL45508NICHD NIH HHS R01 HD048960NICHD NIH HHS R01HD048960NIDDK NIH HHS R01 DK075787NIDDK NIH HHS R01DK075787
6 · The paper itself

Abstract

As we move forward from the current generation of genome-wide association (GWA) studies, additional cohorts of different ancestries will be studied to increase power, fine map association signals, and generalize association results to additional populations. Knowledge of genetic ancestry as well as population substructure will become increasingly important for GWA studies in populations of unknown ancestry. Here we propose genotyping pooled DNA samples using genome-wide SNP arrays as a viable option to efficiently and inexpensively estimate admixture proportion and identify ancestry informative markers (AIMs) in populations of unknown origin. We constructed DNA pools from African American, Native Hawaiian, Latina, and Jamaican samples and genotyped them using the Affymetrix 6.0 array. Aided by individual genotype data from the African American cohort, we established quality control filters to remove poorly performing SNPs and estimated allele frequencies for the remaining SNPs in each panel. We then applied a regression-based method to estimate the proportion of admixture in each cohort using the allele frequencies estimated from pooling and populations from the International HapMap Consortium as reference panels, and identified AIMs unique to each population. In this study, we demonstrated that genotyping pooled DNA samples yields estimates of admixture proportion that are both consistent with our knowledge of population history and similar to those obtained by genotyping known AIMs. Furthermore, through validation by individual genotyping, we demonstrated that pooling is quite effective for identifying SNPs with large allele frequency differences (i.e., AIMs) and that these AIMs are able to differentiate two closely related populations (HapMap JPT and CHB).

Indexed as

Gene PoolPhylogenyAsian PeopleGene FrequencyGenetic MarkersGenetics, PopulationGenome, HumanGenotypeHumansPrincipal Component AnalysisQuality ControlReproducibility of ResultsGenetic Markers

Identifiers

PMID20221249
PMCPMC2832667

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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.