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A perspective on genetic and polygenic risk scores-advances and limitations and overview of associated tools

J. Schwarzerova, M. Hurta, V. Barton, M. Lexa, D. Walther, V. Provaznik, W. Weckwerth

. 2024 ; 25 (3) : . [pub] 20240327

Language English Country England, Great Britain

Document type Journal Article, Review

Persistent link   https://www.medvik.cz/link/bmc24014535

Grant support
FEKT/FIT-J-23-8274 Brno University of Technology intra-university junior project

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.

References provided by Crossref.org

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