Evidence map›Paper›PMID 39059387›Full record

ArticleAmerican journal of human genetics2024

Benchmarking Mendelian randomization methods for causal inference using genome-wide association study summary statistics.

Xianghong Hu, Mingxuan Cai, Jiashun Xiao, Xiaomeng Wan, Zhiwei Wang, Hongyu Zhao, Can Yang

Abstract read
In one paragraph

Article in American journal of human genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers.

0numbers the graph read from it
0cells of the map it votes in
43citing 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

43 citing papers in PubMed.

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  9. Reassessing Instrument Strength in Two-Sample Mendelian Randomization Analysis.medRxiv : the preprint server for health sciences · 2026
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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

7 authors.

Xianghong HuSchool of Mathematical Sciences, Institute of Statistical Sciences, Shenzhen University, Shenzhen 518060, China; Department of Mathematics, The Hong Kong University of Science and Technology, Hong Kong, China; Guangzhou HKUST Fok Ying Tung Research Institute, Guangzhou 511458, China.
Mingxuan CaiDepartment of Biostatistics, City University of Hong Kong, Hong Kong, China.
Jiashun XiaoShenzhen Research Institute of Big Data, Shenzhen 518172, China.
Xiaomeng WanDepartment of Mathematics, The Hong Kong University of Science and Technology, Hong Kong, China; Guangzhou HKUST Fok Ying Tung Research Institute, Guangzhou 511458, China.
Zhiwei WangDepartment of Mathematics, The Hong Kong University of Science and Technology, Hong Kong, China; Guangzhou HKUST Fok Ying Tung Research Institute, Guangzhou 511458, China.
Hongyu ZhaoDepartment of Biostatistics, Yale School of Public Health, New Haven, CT 06520, USA. Electronic address: hongyu.zhao@yale.edu.
Can YangDepartment of Mathematics, The Hong Kong University of Science and Technology, Hong Kong, China; Guangzhou HKUST Fok Ying Tung Research Institute, Guangzhou 511458, China; Big Data Bio-Intelligence Lab, The Hong Kong University of Science and Technology, Hong Kong SAR, China. Electronic address: macyang@ust.hk.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Mendelian randomization (MR), which utilizes genetic variants as instrumental variables (IVs), has gained popularity as a method for causal inference between phenotypes using genetic data. While efforts have been made to relax IV assumptions and develop new methods for causal inference in the presence of invalid IVs due to confounding, the reliability of MR methods in real-world applications remains uncertain. Instead of using simulated datasets, we conducted a benchmark study evaluating 16 two-sample summary-level MR methods using real-world genetic datasets to provide guidelines for the best practices. Our study focused on the following crucial aspects: type I error control in the presence of various confounding scenarios (e.g., population stratification, pleiotropy, and family-level confounders like assortative mating), the accuracy of causal effect estimates, replicability, and power. By comprehensively evaluating the performance of compared methods over one thousand exposure-outcome trait pairs, our study not only provides valuable insights into the performance and limitations of the compared methods but also offers practical guidance for researchers to choose appropriate MR methods for causal inference.

Indexed as

BenchmarkingGenome-Wide Association StudyMendelian Randomization AnalysisCausalityGenetic VariationHumansModels, GeneticPhenotypePolymorphism, Single Nucleotidecausal inferenceconfounding factorsGWAS summary statisticsMendelian randomizationnegative control

Identifiers

PMID39059387
PMCPMC11339627

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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.