Evidence map›Paper›PMID 20717975›Full record

SynthesisGenetic epidemiology2010

Imputation aware meta-analysis of genome-wide association studies.

Noah Zaitlen, Eleazar Eskin

Abstract readMeta-Analysis
In one paragraph

Synthesis in Genetic epidemiology, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
18citing 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

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

  1. Pooled it
  2. Imputing Phenotypes for Genome-wide Association Studies.American journal of human genetics · 2016
    Pooled it
  3. Pooled it
  4. Article
  5. Article
  6. Article
  7. Article
  8. Article
  9. Article
  10. Review
  11. Article
  12. The power of meta-analysis in genome-wide association studies.Annual review of genomics and human genetics · 2013
    Review
  13. Article
  14. Article
  15. Article
  16. Article
  17. Article
  18. 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

2 authors.

Noah ZaitlenBioinformatics Program, University of California, San Diego, California, USA.
Eleazar Eskin

Funding

VISUALIZATION TOOLS FOR AUTOMATED MOLECULAR MICROSCOPYP41RR008605 · NCRR · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI PAPADOPOULOS, PHILIP · 1994 to 2011
$28.1M
INFRASTRUCTURE OF BIOENGINEERING DEVELOPMENTC06RR017588 · NCRR · UNIVERSITY OF CALIFORNIA SAN DIEGO · PI GOUGH, DAVID A · 2002 to 2002
$696k
Discovering the Genetic Basis of HypertensionK25HL080079 · NHLBI · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI ESKIN, ELEAZAR · 2006 to 2010
$685k
NCRR NIH HHS C06 RR017588NCRR NIH HHS P41 RR008605NCRR NIH HHS P41 RR08605NHLBI NIH HHS 1K25HL080079NHLBI NIH HHS K25 HL080079
6 · The paper itself

Abstract

Genome-wide association studies have recently identified many new loci associated with human complex diseases. These newly discovered variants typically have weak effects requiring studies with large numbers of individuals to achieve the statistical power necessary to identify them. Likely, there exist even more associated variants, which remain to be found if even larger association studies can be assembled. Meta-analysis provides a straightforward means of increasing study sample sizes without collecting new samples by combining existing data sets. One obstacle to combining studies is that they are often performed on platforms with different marker sets. Current studies overcome this issue by imputing genotypes missing from each of the studies and then performing standard meta-analysis techniques. We show that this approach may result in a loss of power since errors in imputation are not accounted for. We present a new method for performing meta-analysis over imputed single nucleotide polymorphisms, show that it is optimal with respect to power, and discuss practical implementation issues. Through simulation experiments, we show that our imputation aware meta-analysis approach outperforms or matches standard meta-analysis approaches.

Indexed as

Genome-Wide Association StudyModels, GeneticCase-Control StudiesComputer SimulationGenotypeHumans

Identifiers

PMID20717975
PMCPMC3102182

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

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.