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

Author(s): Jana Schwarzerova, Martin Hurta, Vojtech Barton, Matej Lexa, Dirk Walther, Valentine Provaznik, Wolfram Weckwerth
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.
Organisation(s): Functional and Evolutionary Ecology
External organisation(s): Brno University of Technology, Molecular Systems Biology Lab (MOSYS), Masaryk University, Max-Planck-Institut für Molekulare Pflanzenphysiologie
Journal: Briefings in bioinformatics
Volume: 25
ISSN: 1467-5463
DOI: https://doi.org/10.1093/bib/bbae240
Publication date: 05-2024
Peer reviewed: Yes
Austrian Fields of Science 2012: 106005 Bioinformatics
Keywords
ASJC Scopus subject areas: Information Systems, Molecular Biology
Portal url: https://ucrisportal.univie.ac.at/en/publications/a-perspective-on-genetic-and-polygenic-risk-scoresadvances-and-limitations-and-overview-of-associated-tools(7723e654-7fd7-4f18-b4f0-f6bf2a2fa0c7).html