Publication detail

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

SCHWARZEROVÁ, J. HURTA, M. BARTOŇ, V. LEXA, M. WALTHER, D. PROVAZNÍK, V. WECKWERTH, W.

Original Title

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

Type

journal article in Web of Science

Language

English

Original 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.

Keywords

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

Authors

SCHWARZEROVÁ, J.; HURTA, M.; BARTOŇ, V.; LEXA, M.; WALTHER, D.; PROVAZNÍK, V.; WECKWERTH, W.

Released

20. 5. 2024

Publisher

Oxford University Press

ISBN

1477-4054

Periodical

Briefings in Bioinformatics

Year of study

25

Number

3

State

United Kingdom of Great Britain and Northern Ireland

Pages from

1

Pages to

11

Pages count

11

URL

https://academic.oup.com/bib/article/25/3/bbae240/7676477

Full text in the Digital Library

http://hdl.handle.net/11012/249476

BibTex

@article{BUT188670,
  author="Jana {Schwarzerová} and Martin {Hurta} and Vojtěch {Bartoň} and Matej {Lexa} and Dirk {Walther} and Valentine {Provazník} and Wolfram {Weckwerth}",
  title="A perspective on genetic and polygenic risk scores—advances and limitations and overview of associated tools",
  journal="Briefings in Bioinformatics",
  year="2024",
  volume="25",
  number="3",
  pages="1--11",
  doi="10.1093/bib/bbae240",
  issn="1477-4054",
  url="https://academic.oup.com/bib/article/25/3/bbae240/7676477"
}