Evidence map›Paper›PMID 23861737›Full record

ArticlePloS one2013

A unified framework for association analysis with multiple related phenotypes.

Matthew Stephens

Erratum issuedOpen access · goldAbstract read
In one paragraph

Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 156 papers, 6 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
156citing papers in PubMed, 6 pooled it
17.2field-weighted citation impact, top 1% of its field
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

156 citing papers in PubMed, 6 syntheses or guidelines pooled it, 276 citations in OpenAlex.

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  17. Multivariate Bayesian variable selection for multi-trait genetic fine mapping.Journal of the Royal Statistical Society. Series C, Applied statistics · 2025
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96 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

1 author at 1 institution in 1 country.

Matthew StephensDepartment of Statistics and Department of Human Genetics, University of Chicago, Chicago, Illinois, USA. mstephens@uchicago.edu
University of Illinois Chicago · US

Funding

Genome analysis: statistical methods and applicationsR01HG002585 · NHGRI · UNIVERSITY OF WASHINGTON · PI MATTHEW STEPHENS · 2002 to 2026
$8.4M
Genome analysis: statistical methods and applicationsR56HG002585 · NHGRI · UNIVERSITY OF CHICAGO · PI STEPHENS, MATTHEW · 2023 to 2023
$292k
NHGRI NIH HHS HG02585NHGRI NIH HHS R01 HG002585NHGRI NIH HHS R56 HG002585
6 · The paper itself

Abstract

We consider the problem of assessing associations between multiple related outcome variables, and a single explanatory variable of interest. This problem arises in many settings, including genetic association studies, where the explanatory variable is genotype at a genetic variant. We outline a framework for conducting this type of analysis, based on Bayesian model comparison and model averaging for multivariate regressions. This framework unifies several common approaches to this problem, and includes both standard univariate and standard multivariate association tests as special cases. The framework also unifies the problems of testing for associations and explaining associations - that is, identifying which outcome variables are associated with genotype. This provides an alternative to the usual, but conceptually unsatisfying, approach of resorting to univariate tests when explaining and interpreting significant multivariate findings. The method is computationally tractable genome-wide for modest numbers of phenotypes (e.g. 5-10), and can be applied to summary data, without access to raw genotype and phenotype data. We illustrate the methods on both simulated examples, and to a genome-wide association study of blood lipid traits where we identify 18 potential novel genetic associations that were not identified by univariate analyses of the same data.

Indexed as

Genetic Association StudiesModels, GeneticModels, StatisticalAlgorithmsBayes TheoremComputer SimulationGenotypeHumansLipid MetabolismMultivariate AnalysisPhenotypeRegression Analysis

Identifiers

PMID23861737
PMCPMC3702528
OpenAlexW2056165766

What Socratic holds

Textmetadata
LicenceCC BY
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 Socratic graph.