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@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 a 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, roč.~25, č.~3, s.~1-11. ISSN~1467-5463. Dostupné z: https://dx.doi.org/10.1093/bib/bbae240.
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