Evidence map›Paper›PMID 34880243›Full record

ArticleNature communications2021

Improved analyses of GWAS summary statistics by reducing data heterogeneity and errors.

Wenhan Chen, Yang Wu, Zhili Zheng, Ting Qi, Peter M Visscher, Zhihong Zhu, Jian Yang

Open access · goldAbstract 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 51 papers, 6 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
51citing papers in PubMed, 6 pooled it
8.3field-weighted citation impact, top 2% 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

51 citing papers in PubMed, 6 syntheses or guidelines pooled it, 67 citations in OpenAlex.

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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 at 2 institutions in 2 countries.

Wenhan ChenInstitute for Molecular Bioscience, The University of Queensland, Brisbane, QLD, 4072, Australia.
Yang WuInstitute for Molecular Bioscience, The University of Queensland, Brisbane, QLD, 4072, Australia.ORCID http://orcid.org/0000-0002-0128-7280
Zhili ZhengInstitute for Molecular Bioscience, The University of Queensland, Brisbane, QLD, 4072, Australia.
Ting QiInstitute for Molecular Bioscience, The University of Queensland, Brisbane, QLD, 4072, Australia.
Peter M VisscherInstitute for Molecular Bioscience, The University of Queensland, Brisbane, QLD, 4072, Australia.ORCID http://orcid.org/0000-0002-2143-8760
Zhihong ZhuInstitute for Molecular Bioscience, The University of Queensland, Brisbane, QLD, 4072, Australia.
Jian YangInstitute for Molecular Bioscience, The University of Queensland, Brisbane, QLD, 4072, Australia. jian.yang@westlake.edu.cn.ORCID http://orcid.org/0000-0003-2001-2474
The University of Queensland · AUGarvan Institute of Medical Research · AU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

statistics from genome-wide association studies (GWAS) have facilitated the development of various summary data-based methods, which typically require a reference sample for linkage disequilibrium (LD) estimation. Analyses using these methods may be biased by errors in GWAS summary data or LD reference or heterogeneity between GWAS and LD reference. Here we propose a quality control method, DENTIST, that leverages LD among genetic variants to detect and eliminate errors in GWAS or LD reference and heterogeneity between the two. Through simulations, we demonstrate that DENTIST substantially reduces false-positive rate in detecting secondary signals in the summary-data-based conditional and joint association analysis, especially for imputed rare variants (false-positive rate reduced from >28% to <2% in the presence of heterogeneity between GWAS and LD reference). We further show that DENTIST can improve other summary-data-based analyses such as fine-mapping analysis.

Indexed as

Genetic HeterogeneityFalse Positive ReactionsGenome, HumanGenome-Wide Association StudyGenotypeHumansLimit of DetectionLinkage DisequilibriumPhenotypeSoftware

Identifiers

PMID34880243
PMCPMC8654883
OpenAlexW4225768109

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.