Evidence map›Paper›PMID 22508067›Full record

ArticleGenetic epidemiology2012

Sparse principal component analysis for identifying ancestry-informative markers in genome-wide association studies.

Seokho Lee, Michael P Epstein, Richard Duncan, Xihong Lin

Abstract read
In one paragraph

Article in Genetic epidemiology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.

0numbers the graph read from it
0cells of the map it votes in
20citing 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

20 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Article
  6. Article
  7. A Fast, Provably Accurate Approximation Algorithm for Sparse Principal Component Analysis Reveals Human Genetic Variation Across the World.Research in computational molecular biology : ... Annual International Conference, RECOMB ... : proceedings. RECOMB (Conference : 2005- ) · 2022
    Article
  8. Article
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  10. Article
  11. Article
  12. Article
  13. Article
  14. Article
  15. Article
  16. Review
  17. A Nonlinear Model for Gene-Based Gene-Environment Interaction.International journal of molecular sciences · 2016
    Review
  18. Article
  19. Article
  20. Article
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

4 authors.

Seokho LeeDepartment of Statistics, Hankuk University of Foreign Studies, Yongin, Korea.
Michael P Epstein
Richard Duncan
Xihong Lin

Funding

GRADUATE TRAINING IN BIOSTATISTICST32ES007142 · NIEHS · HARVARD UNIVERSITY (SCH OF PUBLIC HLTH) · PI Brent Andrew Coull · 1985 to 2026
$11.9M
Statistical Methods for Analysis of Massive Genetic and Genomic Data in Cancer ResearchR35CA197449 · NCI · HARVARD UNIVERSITY D/B/A HARVARD SCHOOL OF PUBLIC HEALTH · PI XIHONG LIN · 2015 to 2026
$10.9M
Statistical Methods for the Spatio-Temporal Assessment of Social Disparities in CancerP01CA134294 · NCI · HARVARD SCHOOL OF PUBLIC HEALTH · PI HANEUSE, SEBASTIEN, HERNAN, MIGUEL · 2008 to 2017
$6.8M
Statistical Methods for Correlated and High-Dimensional Biomedical DataR37CA076404 · NCI · HARVARD SCHOOL OF PUBLIC HEALTH · PI LIN, XIHONG · 2007 to 2014
$2.5M
Novel Statistical Methods for Human Gene MappingR01HG003618 · NHGRI · EMORY UNIVERSITY · PI EPSTEIN, MICHAEL PHILIP · 2006 to 2010
$1.5M
NCI NIH HHS P01 CA134294NCI NIH HHS P01CA134294NCI NIH HHS R35 CA197449NCI NIH HHS R37 CA076404NCI NIH HHS R37CA076404NHGRI NIH HHS HG003618NHGRI NIH HHS R01 HG003618NIEHS NIH HHS T32 ES007142
6 · The paper itself

Abstract

Genome-wide association studies (GWAS) routinely apply principal component analysis (PCA) to infer population structure within a sample to correct for confounding due to ancestry. GWAS implementation of PCA uses tens of thousands of single-nucleotide polymorphisms (SNPs) to infer structure, despite the fact that only a small fraction of such SNPs provides useful information on ancestry. The identification of this reduced set of ancestry-informative markers (AIMs) from a GWAS has practical value; for example, researchers can genotype the AIM set to correct for potential confounding due to ancestry in follow-up studies that utilize custom SNP or sequencing technology. We propose a novel technique to identify AIMs from genome-wide SNP data using sparse PCA. The procedure uses penalized regression methods to identify those SNPs in a genome-wide panel that significantly contribute to the principal components while encouraging SNPs that provide negligible loadings to vanish from the analysis. We found that sparse PCA leads to negligible loss of ancestry information compared to traditional PCA analysis of genome-wide SNP data. We further demonstrate the value of sparse PCA for AIM selection using real data from the International HapMap Project and a genomewide study of inflammatory bowel disease. We have implemented our approach in open-source R software for public use.

Indexed as

Genome-Wide Association StudyPrincipal Component AnalysisAlgorithmsChromosome MappingComputational BiologyGenetics, PopulationGenetic VariationHapMap ProjectHumansInflammatory Bowel DiseasesModels, StatisticalPolymorphism, Single NucleotidePopulation GroupsRegression AnalysisSoftware

Identifiers

PMID22508067
PMCPMC3596262

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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.