A perspective on genetic and polygenic risk scores—advances and limitations and overview of associated tools
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Date
2024-05-20
Authors
Schwarzerová, Jana
Hurta, Martin
Bartoň, Vojtěch
Lexa, Matej
Walther, Dirk
Provazník, Valentine
Weckwerth, Wolfram
0000-0003-2918-9313Advisor
Referee
Mark
Journal Title
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Volume Title
Publisher
Oxford University Press
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Abstract
Polygenetic Risk Scores are used to evaluate an individual's vulnerability to developing specific diseases or conditions based on their genetic composition, by taking into account numerous genetic variations. This article provides an overview of the concept of Polygenic Risk Scores (PRS). We elucidate the historical advancements of PRS, their advantages and shortcomings in comparison with other predictive methods, and discuss their conceptual limitations in light of the complexity of biological systems. Furthermore, we provide a survey of published tools for computing PRS and associated resources. The various tools and software packages are categorized based on their technical utility for users or prospective developers. Understanding the array of available tools and their limitations is crucial for accurately assessing and predicting disease risks, facilitating early interventions, and guiding personalized healthcare decisions. Additionally, we also identify potential new avenues for future bioinformatic analyzes and advancements related to PRS.
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Citation
Briefings in Bioinformatics. 2024, vol. 25, issue 3, p. 1-11.
https://academic.oup.com/bib/article/25/3/bbae240/7676477
https://academic.oup.com/bib/article/25/3/bbae240/7676477
Document type
Peer-reviewed
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Published version
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en