Evidence map›Paper›PMID 21467568›Full record

ArticleGenetics2011

Increasing power of genome-wide association studies by collecting additional single-nucleotide polymorphisms.

Emrah Kostem, Jose A Lozano, Eleazar Eskin

Abstract read
In one paragraph

Article in Genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.

0numbers the graph read from it
0cells of the map it votes in
14citing 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

14 citing papers in PubMed.

  1. Article
  2. A Unifying Framework for Imputing Summary Statistics in Genome-Wide Association Studies.Journal of computational biology : a journal of computational molecular cell biology · 2020
    Article
  3. Article
  4. Improving Imputation Accuracy by Inferring Causal Variants in Genetic Studies.Journal of computational biology : a journal of computational molecular cell biology · 2019
    Article
  5. Article
  6. Widespread Allelic Heterogeneity in Complex Traits.American journal of human genetics · 2017
    Article
  7. Review
  8. Colocalization of GWAS and eQTL Signals Detects Target Genes.American journal of human genetics · 2016
    Article
  9. Article
  10. Article
  11. Gene-Gene Interactions Detection Using a Two-stage Model.Journal of computational biology : a journal of computational molecular cell biology · 2015
    Article
  12. Article
  13. Efficiently identifying significant associations in genome-wide association studies.Journal of computational biology : a journal of computational molecular cell biology · 2013
    Article
  14. 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

3 authors.

Emrah KostemDepartment of Computer Science, University of California, Los Angeles, California 90095-1596, USA.
Jose A Lozano
Eleazar Eskin

Funding

Substance Abuse & Behavioral Disinhibition: Integrating Genes & EnvironmentU01DA024417 · NIDA · UNIVERSITY OF MINNESOTA · PI IACONO, WILLIAM G. · 2007 to 2010
$10.8M
Discovering the Genetic Basis of HypertensionK25HL080079 · NHLBI · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI ESKIN, ELEAZAR · 2006 to 2010
$685k
NHLBI NIH HHS K25 HL080079NHLBI NIH HHS K25-HL080079NIDA NIH HHS U01 DA024417NIDA NIH HHS U01-DA024417.NIEHS NIH HHS N01 ES045530
6 · The paper itself

Abstract

Genome-wide association studies (GWASs) have been effectively identifying the genomic regions associated with a disease trait. In a typical GWAS, an informative subset of the single-nucleotide polymorphisms (SNPs), called tag SNPs, is genotyped in case/control individuals. Once the tag SNP statistics are computed, the genomic regions that are in linkage disequilibrium (LD) with the most significantly associated tag SNPs are believed to contain the causal polymorphisms. However, such LD regions are often large and contain many additional polymorphisms. Following up all the SNPs included in these regions is costly and infeasible for biological validation. In this article we address how to characterize these regions cost effectively with the goal of providing investigators a clear direction for biological validation. We introduce a follow-up study approach for identifying all untyped associated SNPs by selecting additional SNPs, called follow-up SNPs, from the associated regions and genotyping them in the original case/control individuals. We introduce a novel SNP selection method with the goal of maximizing the number of associated SNPs among the chosen follow-up SNPs. We show how the observed statistics of the original tag SNPs and human genetic variation reference data such as the HapMap Project can be utilized to identify the follow-up SNPs. We use simulated and real association studies based on the HapMap data and the Wellcome Trust Case Control Consortium to demonstrate that our method shows superior performance to the correlation- and distance-based traditional follow-up SNP selection approaches. Our method is publicly available at http://genetics.cs.ucla.edu/followupSNPs.

Indexed as

Polymorphism, Single NucleotideAlgorithmsArthritis, RheumatoidCoronary Artery DiseaseCrohn DiseaseDiabetes Mellitus, Type 1Diabetes Mellitus, Type 2Genetic Predisposition to DiseaseGenome, HumanGenome-Wide Association StudyGenotypeHumansLinkage DisequilibriumModels, GeneticReproducibility of Results

Identifiers

PMID21467568
PMCPMC3122306

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.