Evidence map›Paper›PMID 39776894›Full record

ArticleBioinformatics advances2025

Genal: a Python toolkit for genetic risk scoring and Mendelian randomization.

Cyprien A Rivier, Santiago Clocchiatti-Tuozzo, Shufan Huo, Victor Torres-Lopez, Daniela Renedo, Kevin N Sheth, Guido J Falcone, Julian N Acosta

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 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing 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

6 citing papers in PubMed.

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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

8 authors.

Cyprien A RivierDepartment of Neurology, Yale School of Medicine, New Haven, CT 06510, United States.ORCID https://orcid.org/0000-0002-1148-1829
Santiago Clocchiatti-TuozzoDepartment of Neurology, Yale School of Medicine, New Haven, CT 06510, United States.
Shufan HuoDepartment of Neurology, Yale School of Medicine, New Haven, CT 06510, United States.
Victor Torres-LopezDepartment of Neurology, Yale School of Medicine, New Haven, CT 06510, United States.
Daniela RenedoDepartment of Neurology, Yale School of Medicine, New Haven, CT 06510, United States.
Kevin N ShethDepartment of Neurology, Yale School of Medicine, New Haven, CT 06510, United States.
Guido J FalconeDepartment of Neurology, Yale School of Medicine, New Haven, CT 06510, United States.
Julian N AcostaDepartment of Biomedical Informatics, Harvard Medical School, Boston, MA 02115, United States.

Funding

Yale Clinical and Translational Science Award (U Component)UL1TR001863 · NCATS · YALE UNIVERSITY · PI John H. Krystal, LUCILA OHNO-MACHADO · 2016 to 2026
$102.9M
American Heart Association-American Stroke Association 24RSSPOST1328228NCATS NIH HHS UL1 TR001863
6 · The paper itself

Abstract

Motivation: The expansion of genetic association data from genome-wide association studies has increased the importance of methodologies like Polygenic Risk Scores (PRS) and Mendelian Randomization (MR) in genetic epidemiology. However, their application is often impeded by complex, multi-step workflows requiring specialized expertise and the use of disparate tools with varying data formatting requirements. Existing solutions are frequently standalone packages or command-line based-largely due to dependencies on tools like PLINK-limiting accessibility for researchers without computational experience. Given Python's popularity and ease of use, there is a need for an integrated, user-friendly Python toolkit to streamline PRS and MR analyses. Results: We introduce Genal, a Python package that consolidates SNP-level data handling, cleaning, clumping, PRS computation, and MR analyses into a single, cohesive toolkit. By eliminating the need for multiple R packages and for command-line interaction by wrapping around PLINK, Genal lowers the barrier for medical scientists to perform complex genetic epidemiology studies. Genal draws on concepts from several well-established tools, ensuring that users have access to rigorous statistical techniques in the intuitive Python environment. Additionally, Genal leverages parallel processing for MR methods, including MR-PRESSO, significantly reducing the computational time required for these analyses. Availability and implementation: The package is available on Pypi (https://pypi.org/project/genal-python/), the code is openly available on Github with a tutorial: https://github.com/CypRiv/genal, and the documentation can be found on readthedocs: https://genal.rtfd.io.

Identifiers

PMID39776894
PMCPMC11706532

What Socratic holds

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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 Socratic graph.