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

J 2024

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

SCHWARZEROVÁ, Jana, Martin HURTA, Vojtěch BARTOŇ, Matej LEXA, Dirk WALTHER et. al.

Basic information

Original name

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

Authors

SCHWARZEROVÁ, Jana (203 Czech Republic, guarantor), Martin HURTA (203 Czech Republic), Vojtěch BARTOŇ (203 Czech Republic, belonging to the institution), Matej LEXA (703 Slovakia, belonging to the institution), Dirk WALTHER (276 Germany), Valentine PROVAZNÍK (203 Czech Republic, belonging to the institution) and Wolfram WECKWERTH (40 Austria)

Edition

Briefings in Bioinformatics, OXFORD, Oxford University Press, 2024, 1467-5463

Other information

Language

English

Type of outcome

Článek v odborném periodiku

Field of Study

10201 Computer sciences, information science, bioinformatics

Country of publisher

United Kingdom of Great Britain and Northern Ireland

Confidentiality degree

není předmětem státního či obchodního tajemství

References:

URL

Impact factor

Impact factor: 9.500 in 2022

Organization unit

Faculty of Medicine

DOI

http://dx.doi.org/10.1093/bib/bbae240

UT WoS

001273456200003

Keywords in English

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

Abstract

V originále

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.

Citovat

SCHWARZEROVÁ, Jana, Martin HURTA, Vojtěch BARTOŇ, Matej LEXA, Dirk WALTHER, Valentine PROVAZNÍK and Wolfram WECKWERTH. A perspective on genetic and polygenic risk scores - advances and limitations and overview of associated tools. Briefings in Bioinformatics. OXFORD: Oxford University Press, 2024, vol. 25, No 3, p. 1-11. ISSN 1467-5463. Available from: https://dx.doi.org/10.1093/bib/bbae240.

@article{2403298,
   author = {Schwarzerová, Jana and Hurta, Martin and Bartoň, Vojtěch and Lexa, Matej and Walther, Dirk and Provazník, Valentine and Weckwerth, Wolfram},
   article_location = {OXFORD},
   article_number = {3},
   doi = {http://dx.doi.org/10.1093/bib/bbae240},
   keywords = {polygenic risk score; genetic variations; GWAS; genomic prediction; genotype; phenotype},
   language = {eng},
   issn = {1467-5463},
   journal = {Briefings in Bioinformatics},
   title = {A perspective on genetic and polygenic risk scores - advances and limitations and overview of associated tools},
   url = {https://academic.oup.com/bib/article/25/3/bbae240/7676477},
   volume = {25},
   year = {2024}
}

TY  - JOUR
ID  - 2403298
AU  - Schwarzerová, Jana - Hurta, Martin - Bartoň, Vojtěch - Lexa, Matej - Walther, Dirk - Provazník, Valentine - Weckwerth, Wolfram
PY  - 2024
TI  - A perspective on genetic and polygenic risk scores - advances and limitations and overview of associated tools
JF  - Briefings in Bioinformatics
VL  - 25
IS  - 3
SP  - 1-11
EP  - 1-11
PB  - Oxford University Press
SN  - 14675463
KW  - polygenic risk score
KW  - genetic variations
KW  - GWAS
KW  - genomic prediction
KW  - genotype
KW  - phenotype
UR  - https://academic.oup.com/bib/article/25/3/bbae240/7676477
N2  - 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.
ER  -

SCHWARZEROVÁ, Jana, Martin HURTA, Vojtěch BARTOŇ, Matej LEXA, Dirk WALTHER, Valentine PROVAZNÍK and Wolfram WECKWERTH. A perspective on genetic and polygenic risk scores - advances and limitations and overview of associated tools. \textit{Briefings in Bioinformatics}. OXFORD: Oxford University Press, 2024, vol.~25, No~3, p.~1-11. ISSN~1467-5463. Available from: https://dx.doi.org/10.1093/bib/bbae240.

Detailed Information on Publication Record