Evidence map›Paper›PMID 29037167›Full record

ArticleBMC genomics2017

Ancestry inference using principal component analysis and spatial analysis: a distance-based analysis to account for population substructure.

Jinyoung Byun, Younghun Han, Ivan P Gorlov, Jonathan A Busam, Michael F Seldin, Christopher I Amos

Abstract read
In one paragraph

Article in BMC genomics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
30citing papers in PubMed, 3 pooled it
–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

30 citing papers in PubMed, 3 syntheses or guidelines pooled it.

  1. Pooled it
  2. The Shared Genetic Architectures Between Lung Cancer and Multiple Polygenic Phenotypes in Genome-Wide Association Studies.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2021
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  17. Admixture Mapping in African Americans Identifies New Risk Loci for HCV-Related Cirrhosis.Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association · 2023
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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

6 authors.

Jinyoung ByunDepartment of Biomedical Data Science, Dartmouth Geisel School of Medicine, One Medical Center Drive, Lebanon, NH, 03756, USA.
Younghun HanDepartment of Biomedical Data Science, Dartmouth Geisel School of Medicine, One Medical Center Drive, Lebanon, NH, 03756, USA.
Ivan P GorlovDepartment of Biomedical Data Science, Dartmouth Geisel School of Medicine, One Medical Center Drive, Lebanon, NH, 03756, USA.
Jonathan A BusamDepartment of Biomedical Data Science, Dartmouth Geisel School of Medicine, One Medical Center Drive, Lebanon, NH, 03756, USA.
Michael F SeldinDepartment of Biochemistry and Molecular Medicine, University of California Davis, Davis, CA, 95616, USA.
Christopher I AmosDepartment of Biomedical Data Science, Dartmouth Geisel School of Medicine, One Medical Center Drive, Lebanon, NH, 03756, USA. Christopher.I.Amos@dartmouth.edu.

Funding

Transdisciplinary Research in Cancer of the Lung (TRICL)U19CA148127 · NCI · UNIVERSITY OF TX MD ANDERSON CAN CTR · PI AMOS, CHRISTOPHER I., LE MARCHAND, LOIC · 2010 to 2014
$10.9M
Quantitative Biology Research InstituteP20GM103534 · NIGMS · DARTMOUTH COLLEGE · PI AMOS, CHRISTOPHER I. · 2012 to 2016
$8.6M
Training Program for Quantitative Population Sciences in CancerR25CA134286 · NCI · DARTMOUTH COLLEGE · PI KARAGAS, MARGARET RITA, TOSTESON, TOR D · 2009 to 2018
$3.0M
NCI NIH HHS R25 CA134286NCI NIH HHS U19 CA148127NIGMS NIH HHS P20 GM103534
6 · The paper itself

Abstract

backgroundAccurate inference of genetic ancestry is of fundamental interest to many biomedical, forensic, and anthropological research areas. Genetic ancestry memberships may relate to genetic disease risks. In a genome association study, failing to account for differences in genetic ancestry between cases and controls may also lead to false-positive results. Although a number of strategies for inferring and taking into account the confounding effects of genetic ancestry are available, applying them to large studies (tens thousands samples) is challenging. The goal of this study is to develop an approach for inferring genetic ancestry of samples with unknown ancestry among closely related populations and to provide accurate estimates of ancestry for application to large-scale studies.

methodsIn this study we developed a novel distance-based approach, Ancestry Inference using Principal component analysis and Spatial analysis (AIPS) that incorporates an Inverse Distance Weighted (IDW) interpolation method from spatial analysis to assign individuals to population memberships.

resultsWe demonstrate the benefits of AIPS in analyzing population substructure, specifically related to the four most commonly used tools EIGENSTRAT, STRUCTURE, fastSTRUCTURE, and ADMIXTURE using genotype data from various intra-European panels and European-Americans. While the aforementioned commonly used tools performed poorly in inferring ancestry from a large number of subpopulations, AIPS accurately distinguished variations between and within subpopulations.

conclusionsOur results show that AIPS can be applied to large-scale data sets to discriminate the modest variability among intra-continental populations as well as for characterizing inter-continental variation. The method we developed will protect against spurious associations when mapping the genetic basis of a disease. Our approach is more accurate and computationally efficient method for inferring genetic ancestry in the large-scale genetic studies.

Indexed as

EuropeGenetics, PopulationGenome, HumanHumansPhylogenyPrincipal Component AnalysisAncestry inferenceInverse distance weighted interpolationPrincipal component analysisSpatial analysis

Identifiers

PMID29037167
PMCPMC5644186

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LicenceCC BY
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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.