A perspective on genetic and polygenic risk scores-advances and limitations and overview of associated tools
Jazyk angličtina Země Velká Británie, Anglie Médium print
Typ dokumentu časopisecké články, přehledy
Grantová podpora
FEKT/FIT-J-23-8274
Brno University of Technology intra-university junior project
PubMed
38770718
PubMed Central
PMC11106636
DOI
10.1093/bib/bbae240
PII: 7676477
Knihovny.cz E-zdroje
- Klíčová slova
- GWAS, genetic variations, genomic prediction, genotype, phenotype, polygenic risk score,
- MeSH
- celogenomová asociační studie metody MeSH
- genetická predispozice k nemoci * MeSH
- genetické rizikové skóre MeSH
- hodnocení rizik metody MeSH
- lidé MeSH
- multifaktoriální dědičnost * MeSH
- rizikové faktory MeSH
- software * MeSH
- výpočetní biologie metody MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- přehledy MeSH
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.
Department of Physiology Faculty of Medicine Masaryk University Brno 62500 Czech Republic
Faculty of Informatics Masaryk University Botanicka 68a Brno 60200 Czech Republic
Max Planck Institute of Molecular Plant Physiology Potsdam 14476 Germany
RECETOX Faculty of Science Masaryk University Kotlarska 2 Brno 62500 Czech Republic
Vienna Metabolomics Center University of Vienna Vienna 1010 Austria
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