Evidence map›Paper›PMID 41221371›Full record

ArticleBioinformatics advances2025

TidyGWAS: a scalable approach for standardized cleaning of genome-wide association study summary statistics.

Arvid Harder, Jerry Guintivano, Joëlle A Pasman, Patrick F Sullivan, Yi Lu

Abstract read
In one paragraph

Article in Bioinformatics advances, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

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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

2 citing papers in PubMed.

  1. Article
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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

5 authors.

Arvid HarderDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, 171 77, Sweden.ORCID https://orcid.org/0000-0002-5984-9207
Jerry GuintivanoDepartment of Genetics and Psychiatry, University of North Carolina, Chapel Hill, NC, NC 27599-7264, United States.
Joëlle A PasmanGenetic Epidemiology, Department of Psychiatry, Amsterdam UMC Location University of Amsterdam, Amsterdam, 1105 AZ, The Netherlands.
Patrick F SullivanDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, 171 77, Sweden.
Yi LuDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, 171 77, Sweden.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Motivation: Genome-wide association studies (GWAS) have transformed human genetics by identifying tens of thousands of trait-associated variants, enabling applications from drug discovery to polygenic risk prediction. These advancements depend critically on open sharing of GWAS summary statistics. However, a lack of standardized formats complicates downstream analyses, requiring extensive dataset-specific "munging" before analysis can proceed. Results: Here we present tidyGWAS, an R package that streamlines this process by cleanly separating data validation and harmonization from quality control. tidyGWAS uses curated data to repair and harmonize variant identifiers across genome builds, imputes missing columns when possible, and validates summary statistics with minimal filters. Outputs are saved as partitioned parquet files, optimized for high-throughput analysis via the arrow package. Benchmarked against existing tools tidyGWAS is up to 6.5× faster and substantially more memory efficient. Additionally, we implement a fixed-effects meta-analysis directly on tidyGWAS output, achieving up to 10× speedup over existing software. tidyGWAS simplifies and accelerates statistical genetic workflows, improving reproducibility and scalability for large-scale genetic analyses. Availability and implementation: The package, reference data, and Docker containers are freely available for broad adoption.

Identifiers

PMID41221371
PMCPMC12597892

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LicenceCC BY
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Registered trials

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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.