Evidence map›Paper›PMID 40658369›Full record

ArticleStatistics in medicine2025

Outlier Detection in Mendelian Randomization.

Maximilian M Mandl, Anne-Laure Boulesteix, Stephen Burgess, Verena Zuber

Abstract read
In one paragraph

Article in Statistics in medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Article
  2. Article
  3. Outlier Detection in Mendelian Randomization.Statistics in medicine · 2025
    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.

Maximilian M MandlInstitute for Medical Information Processing, Biometry, and Epidemiology, Faculty of Medicine, Ludwig-Maximilians-Universität, München, Germany.ORCID https://orcid.org/0000-0003-0518-9802
Anne-Laure BoulesteixInstitute for Medical Information Processing, Biometry, and Epidemiology, Faculty of Medicine, Ludwig-Maximilians-Universität, München, Germany.ORCID https://orcid.org/0000-0002-2729-0947
Stephen BurgessMRC Biostatistics Unit, School of Clinical Medicine, University of Cambridge, Cambridge, UK.
Verena ZuberDepartment of Epidemiology and Biostatistics, Imperial College London, London, UK.

Funding

Deutsche Forschungsgemeinschaft BO3139/7-1Medical Research Council MR/W029790/1United Kingdom Research and Innovation Medical Research Council MR/W029790/1Wellcome Trust 225790
6 · The paper itself

Abstract

Mendelian randomization (MR) uses genetic variants as instrumental variables to infer causal effects of exposures on an outcome. One key assumption of MR is that the genetic variants used as instrumental variables are independent of the outcome conditional on the risk factor and unobserved confounders. Violations of this assumption, that is, the effect of the instrumental variables on the outcome through a path other than the risk factor included in the model (which can be caused by pleiotropy), are common phenomena in human genetics. Genetic variants, which deviate from this assumption, appear as outliers to the MR model fit and can be detected by the general heterogeneity statistics proposed in the literature, which are known to suffer from overdispersion, that is, too many genetic variants are declared as false outliers. We propose a method that corrects for overdispersion of the heterogeneity statistics in uni- and multivariable MR analysis by making use of the estimated inflation factor to correctly remove outlying instruments and therefore account for pleiotropic effects. Our method is applicable to summary-level data.

Indexed as

Genetic VariationMendelian Randomization AnalysisCausalityComputer SimulationGenetic PleiotropyHumansModels, StatisticalRisk Factorsinstrumental variablesinvalid instrumentsMendelian randomizationoutlier detectionpleiotropy

Identifiers

PMID40658369
PMCPMC12258383

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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.