Evidence map›Paper›PMID 41068909›Full record

ArticleGenome medicine2025

STREAM-PRS: a multi-tool pipeline for streamlining polygenic risk score computation.

Sara Becelaere, Yasmina Abakkouy, Deborah Sarah Jans, Margaux David, Séverine Vermeire, Isabelle Cleynen

Abstract read
In one paragraph

Article in Genome medicine, 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

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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.

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3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

6 authors.

Sara Becelaere *Laboratory for Complex Genetics, Department of Human Genetics, KU Leuven, Leuven, Belgium.
Yasmina Abakkouy *Laboratory for Complex Genetics, Department of Human Genetics, KU Leuven, Leuven, Belgium.
Deborah Sarah JansLaboratory for Complex Genetics, Department of Human Genetics, KU Leuven, Leuven, Belgium.
Margaux DavidLaboratory for Neuroimmunology, Department of Neurosciences, KU Leuven, Leuven, Belgium.
Séverine VermeireTranslational Research in Gastrointestinal Disorders, Department of Chronic Diseases and Metabolism (CHROMETA), KU Leuven, Leuven, Belgium.
Isabelle CleynenLaboratory for Complex Genetics, Department of Human Genetics, KU Leuven, Leuven, Belgium. isabelle.cleynen@kuleuven.be.

Funding

FWO SBO grant S003422NFWO-Vlaanderen 11F9623N
6 · The paper itself

Abstract

backgroundPolygenic risk scores (PRS) offer an elegant approach to estimating an individual's genetic predisposition to a given disease or trait. Numerous tools are available for PRS calculation, each applying different strategies to account for linkage disequilibrium and effect size shrinkage. No single tool is inherently superior. Therefore, multiple tools should be tested to identify the one that best suits the research question. Additionally, challenges such as population stratification and PRS portability further complicate the field. Here, we developed STREAM-PRS, a PRS pipeline designed to calculate scores using five popular tools: PRSice-2, PRS-CS, LDpred2, lassosum, and lassosum2.

methodsSTREAM-PRS first computes scores under various settings in a training dataset. The selected variants are subsequently used for score calculation in the test dataset, followed by PC correction and standardization to improve portability across different centers. Finally, the pipeline determines the best PRS tool and settings based on the variance explained (R

resultsUsing STREAM-PRS for 472 scores across the 5 PRS tools with 404 individuals in the training and 1000 individuals in the test dataset takes approximately 20 h to complete. For IBD, lassosum was identified as the best-performing tool with optimal settings as follows: a shrinkage value of 0.7 and a lambda value of 0.008859. Applying this optimized PRS to our in-house IBD dataset (validation) resulted in an R

conclusionsOverall, STREAM-PRS provides an efficient framework for selecting the best PRS calculation strategy and helps bridge the portability gap within the PRS field. STREAM-PRS is available at https://github.com/SaraBecelaere/STREAM-PRS.

Indexed as

Computational BiologyGenetic Predisposition to DiseaseInflammatory Bowel DiseasesMultifactorial InheritanceSoftwareGenetic Risk ScoreGenome-Wide Association StudyHumansPolymorphism, Single NucleotideRisk FactorsAutomated multi-tool pipelineComplex diseaseInflammatory bowel diseasePolygenic risk scoresPrecision medicine

Identifiers

PMID41068909
PMCPMC12512491

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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.