Publication Details

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

SCHWARZEROVÁ Jana, HURTA Martin, BARTOŇ Vojtěch, LEXA Matej, WALTHER Dirk, PROVAZNÍK Valentine and WECKWERTH Wolfram. A perspective on genetic and polygenic risk scores-advances and limitations and overview of associated tools. Briefings in Bioinformatics, vol. 25, no. 3, 2024, pp. 1-11. ISSN 1467-5463. Available from: https://academic.oup.com/bib/article/25/3/bbae240/7676477
Czech title
Pohled na genetické a polygenické rizikové skóre - Pokroky, omezení a přehled souvisejících nástrojů
Type
journal article
Language
english
Authors
Schwarzerová Jana, Ing. et Ing., MSc (FEEC BUT)
Hurta Martin, Ing. (DCSY FIT BUT)
Bartoň Vojtěch, Ing. (FEEC BUT)
Lexa Matej, Ing., Ph.D. (FI MUNI)
Walther Dirk (MPIMP)
Provazník Valentine, prof. Ing., Ph.D. (DBME FEEC BUT)
Weckwerth Wolfram (UNIVIE)
URL
Keywords

polygenic risk score, genetic variations, GWAS, genomic prediction, genotype, phenotype

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.

Published
2024
Pages
1-11
Journal
Briefings in Bioinformatics, vol. 25, no. 3, ISSN 1467-5463
Publisher
Oxford University Press
DOI
10.1093/bib/bbae240
BibTeX 
@ARTICLE{FITPUB13209,
   author = "Jana Schwarzerov\'{a} and Martin Hurta and Vojt\v{e}ch Barto\v{n} and Matej Lexa and Dirk Walther and Valentine Provazn\'{i}k and Wolfram Weckwerth",
   title = "A perspective on genetic and polygenic risk scores-advances and limitations and overview of associated tools",
   pages = "1--11",
   journal = "Briefings in Bioinformatics",
   volume = 25,
   number = 3,
   year = 2024,
   ISSN = "1467-5463",
   doi = "10.1093/bib/bbae240",
   language = "english",
   url = "https://www.fit.vut.cz/research/publication/13209"
}
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