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

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dc.contributor.authorSchwarzerová, Janacs
dc.contributor.authorHurta, Martincs
dc.contributor.authorBartoň, Vojtěchcs
dc.contributor.authorLexa, Matejcs
dc.contributor.authorWalther, Dirkcs
dc.contributor.authorProvazník, Valentinecs
dc.contributor.authorWeckwerth, Wolframcs
dc.coverage.issue3cs
dc.coverage.volume25cs
dc.date.accessioned2024-10-14T09:03:23Z
dc.date.available2024-10-14T09:03:23Z
dc.date.issued2024-05-20cs
dc.description.abstractPolygenetic 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.en
dc.formattextcs
dc.format.extent1-11cs
dc.format.mimetypeapplication/pdfcs
dc.identifier.citationBriefings in Bioinformatics. 2024, vol. 25, issue 3, p. 1-11.en
dc.identifier.doi10.1093/bib/bbae240cs
dc.identifier.issn1477-4054cs
dc.identifier.orcid0000-0003-2918-9313cs
dc.identifier.orcid0000-0002-7915-8147cs
dc.identifier.orcid0000-0002-1918-2989cs
dc.identifier.orcid0000-0002-3422-7938cs
dc.identifier.other188670cs
dc.identifier.researcheridQ-7941-2018cs
dc.identifier.researcheridF-4121-2012cs
dc.identifier.scopus57642611700cs
dc.identifier.scopus57208759845cs
dc.identifier.scopus6701729526cs
dc.identifier.urihttps://hdl.handle.net/11012/249476
dc.language.isoencs
dc.publisherOxford University Presscs
dc.relation.ispartofBriefings in Bioinformaticscs
dc.relation.urihttps://academic.oup.com/bib/article/25/3/bbae240/7676477cs
dc.rightsCreative Commons Attribution 4.0 Internationalcs
dc.rights.accessopenAccesscs
dc.rights.sherpahttp://www.sherpa.ac.uk/romeo/issn/1477-4054/cs
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/cs
dc.subjectpolygenic risk scoreen
dc.subjectgenetic variationsen
dc.subjectGWASen
dc.subjectgenomic predictionen
dc.subjectgenotypeen
dc.subjectphenotypeen
dc.titleA perspective on genetic and polygenic risk scores—advances and limitations and overview of associated toolsen
dc.type.driverarticleen
dc.type.statusPeer-revieweden
dc.type.versionpublishedVersionen
sync.item.dbidVAV-188670en
sync.item.dbtypeVAVen
sync.item.insts2024.10.14 11:03:23en
sync.item.modts2024.09.20 15:32:13en
thesis.grantorVysoké učení technické v Brně. Fakulta elektrotechniky a komunikačních technologií. Ústav biomedicínského inženýrstvícs
thesis.grantorVysoké učení technické v Brně. Fakulta informačních technologií. Ústav počítačových systémůcs
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