Detail publikace

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.

Originální název

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

Typ

článek v časopise ve Web of Science, Jimp

Jazyk

angličtina

Originální abstrakt

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.

Klíčová slova

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

Autoři

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

Vydáno

20. 5. 2024

Nakladatel

Oxford University Press

ISSN

1477-4054

Periodikum

Briefings in Bioinformatics

Ročník

25

Číslo

3

Stát

Spojené království Velké Británie a Severního Irska

Strany od

1

Strany do

11

Strany počet

11

URL

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

Plný text v Digitální knihovně

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"
}