Evidence map›Paper›PMID 33785739›Full record

ArticleNature communications2021

Model-based assessment of replicability for genome-wide association meta-analysis.

Daniel McGuire, Yu Jiang, Mengzhen Liu, J Dylan Weissenkampen, Scott Eckert, Lina Yang, Fang Chen, GWAS and Sequencing Consortium of Alcohol and Nicotine Use (GSCAN), Arthur Berg, Scott Vrieze and 3 more

Abstract read
In one paragraph

Article in Nature communications, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 6 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
26citing papers in PubMed, 6 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

26 citing papers in PubMed, 6 syntheses or guidelines pooled it.

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  20. 10 Years of GWAS in intraocular pressure.Frontiers in genetics · 2023
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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

13 authors.

Daniel McGuireDepartment of Public Health Sciences, Penn State College of Medicine, Hershey, PA, USA.ORCID 0000-0002-5964-6610
Yu JiangDepartment of Public Health Sciences, Penn State College of Medicine, Hershey, PA, USA.
Mengzhen LiuDepartment of Psychology, University of Minnesota, Minneapolis, MN, USA.ORCID 0000-0001-6550-6959
J Dylan WeissenkampenDepartment of Public Health Sciences, Penn State College of Medicine, Hershey, PA, USA.
Scott EckertDepartment of Public Health Sciences, Penn State College of Medicine, Hershey, PA, USA.ORCID 0000-0001-6282-2497
Lina YangDepartment of Public Health Sciences, Penn State College of Medicine, Hershey, PA, USA.
Fang ChenDepartment of Public Health Sciences, Penn State College of Medicine, Hershey, PA, USA.
GWAS and Sequencing Consortium of Alcohol and Nicotine Use (GSCAN)
Arthur BergDepartment of Public Health Sciences, Penn State College of Medicine, Hershey, PA, USA.
Scott VriezeDepartment of Psychology, University of Minnesota, Minneapolis, MN, USA.ORCID 0000-0003-3861-7930
Bibo JiangDepartment of Public Health Sciences, Penn State College of Medicine, Hershey, PA, USA. bjiang@phs.psu.edu.ORCID 0000-0002-7985-3780
Qunhua LiDepartment of Statistics, Penn State University, University Park, PA, USA. qunhua.li@psu.edu.ORCID 0000-0003-0675-7648
Dajiang J LiuDepartment of Public Health Sciences, Penn State College of Medicine, Hershey, PA, USA. dajiang.liu@psu.edu.ORCID 0000-0001-6553-858X

Funding

Regional Pilot And Feasibility Study Grants ProgramP30DK020572 · NIDDK · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI DAVID P OLSON · 2013 to 2026
$24.3M
Genetic Association Meta-Analyses of Smoking and Drinking for the Sequencing AgeR01DA037904 · NIDA · UNIVERSITY OF MINNESOTA · PI VRIEZE, SCOTT IAN · 2015 to 2019
$2.4M
Statistical methods for improving reproducibility and utility of sequencing dataR01GM109453 · NIGMS · PENNSYLVANIA STATE UNIVERSITY, THE · PI LI, QUNHUA · 2013 to 2022
$2.3M
Method to Enhance the Rare Variant Genetic Architecture Analysis in Meta-AnalysesR01HG008983 · NHGRI · PENNSYLVANIA STATE UNIV HERSHEY MED CTR · PI LIU, DAJIANG · 2016 to 2019
$1.6M
Tools for integrative genomics and disease association study for the X chromosomeR01GM126479 · NIGMS · PENNSYLVANIA STATE UNIV HERSHEY MED CTR · PI LIU, DAJIANG · 2018 to 2021
$1.2M
Methods to Identify, Validate & Interpret GWAS Loci in Multi-ethnic Meta-analysisR56HG011035 · NHGRI · PENNSYLVANIA STATE UNIV HERSHEY MED CTR · PI LIU, DAJIANG · 2021 to 2021
$576k
Methods to Unveil the Genetic Architecture for Nicotine Dependence via NGS dataR21DA040177 · NIDA · PENNSYLVANIA STATE UNIV HERSHEY MED CTR · PI LIU, DAJIANG · 2015 to 2016
$447k
NHGRI NIH HHS R01 HG008983NHGRI NIH HHS R56 HG011035NIDA NIH HHS R01 DA037904NIDA NIH HHS R21 DA040177NIDDK NIH HHS P30 DK020572NIGMS NIH HHS R01 GM109453NIGMS NIH HHS R01 GM126479
6 · The paper itself

Abstract

Genome-wide association meta-analysis (GWAMA) is an effective approach to enlarge sample sizes and empower the discovery of novel associations between genotype and phenotype. Independent replication has been used as a gold-standard for validating genetic associations. However, as current GWAMA often seeks to aggregate all available datasets, it becomes impossible to find a large enough independent dataset to replicate new discoveries. Here we introduce a method, MAMBA (Meta-Analysis Model-based Assessment of replicability), for assessing the "posterior-probability-of-replicability" for identified associations by leveraging the strength and consistency of association signals between contributing studies. We demonstrate using simulations that MAMBA is more powerful and robust than existing methods, and produces more accurate genetic effects estimates. We apply MAMBA to a large-scale meta-analysis of addiction phenotypes with 1.2 million individuals. In addition to accurately identifying replicable common variant associations, MAMBA also pinpoints novel replicable rare variant associations from imputation-based GWAMA and hence greatly expands the set of analyzable variants.

Indexed as

AlgorithmsMeta-Analysis as TopicModels, GeneticPolymorphism, Single NucleotideComputational BiologyGenetic Association StudiesGenome-Wide Association StudyGenotypePhenotypeReproducibility of ResultsSample SizeSoftware

Identifiers

PMID33785739
PMCPMC8009871

What OpenQuestion 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 OpenQuestion graph.