The Spanish Polygenic Score reference distribution: a resource for personalized medicine

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  • dc.contributor.author Carmona, Rosario
  • dc.contributor.author Roldán, Gema
  • dc.contributor.author Fernández-Rueda, Jose L.
  • dc.contributor.author Navarro i Cuartiellas, Arcadi, 1969-
  • dc.contributor.author Peña-Chilet, María
  • dc.contributor.author CSVS Crowdsourcing Group
  • dc.contributor.author Dopazo, Joaquín
  • dc.contributor.author López-López, Daniel
  • dc.date.accessioned 2025-05-09T05:38:06Z
  • dc.date.available 2025-05-09T05:38:06Z
  • dc.date.issued 2025
  • dc.description Data de publicació electrònica: 24-04-2025
  • dc.description.abstract Here we present the Polygenic Score (PGS) distributions for 3124 common diseases and quantitative traits observed in the Spanish population. To achieve so, the genomes and exomes of 2190 unrelated individuals of Spanish ancestry were used. The analysis covered a wide range of diseases and traits, including both complex disorders, such as various types of cancer, and disorders associated with the digestive, cardiovascular, neuronal, and immune systems, as well as quantitative traits like hematological and anthropometric measurements. The resulting PGS distributions provide valuable insights into the genetic architecture of the Spanish population, offering a comprehensive framework for investigating disease susceptibility and potential risk factors in this specific population. The study has also explored potential relationships between diseases and traits based on PGS pairwise correlations, revealing significant correlations that warrant further investigation. These findings have contributed to increase our understanding of the genetic basis of human traits and have implications for personalized medicine and public health interventions in the Spanish population. In addition, for the sake of reproducibility, we provide a data processing pipeline, enabling the computation of PGS for external genomes and exomes. The pipeline, accessible on GitHub, supports parallel tasks on various computing platforms and contributes to the standardization of PGS comparisons globally. Lastly, a user-friendly web interface facilitates the exploration of PGS reference distributions, featuring a detailed table, distribution plots, and filtering options. This interface enhances accessibility for researchers and clinicians, fostering informed decision-making based on population-specific PGS distributions. The PGS reference distributions can be explored at the SpPGS Atlas repository through the web interface: https://csvs.clinbioinfosspa.es/?tab=pgs.
  • dc.description.sponsorship This work is supported by Postdoctoral Grant RH-0052-2021 of Rosario Carmona from Junta de Andalucía (Consejería de Salud y Familias), co-funded by the European Union, European Social Fund (FSE) 2014-2020, and also by grants PID2020-117979RB-I00 from the Spanish Ministry of Science and Innovation, IMPaCT-Data IMP/00019 from the ISCIII, co-funded with European Regional Development Funds (ERDF).
  • dc.format.mimetype application/pdf
  • dc.identifier.citation Carmona R, Roldán G, Fernández-Rueda JL, Navarro A, Peña-Chilet M; CSVS Crowdsourcing Group; Dopazo J, et al. The Spanish Polygenic Score reference distribution: a resource for personalized medicine. Eur J Hum Genet. 2025 Apr 24. DOI: 10.1038/s41431-025-01850-9
  • dc.identifier.doi http://dx.doi.org/10.1038/s41431-025-01850-9
  • dc.identifier.issn 1018-4813
  • dc.identifier.uri http://hdl.handle.net/10230/70337
  • dc.language.iso eng
  • dc.publisher Nature Research
  • dc.relation.ispartof Eur J Hum Genet. 2025 Apr 24
  • dc.relation.projectID info:eu-repo/grantAgreement/ES/2PE/PID2020-117979RB-I00
  • dc.rights © The Author(s) 2025. Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.
  • dc.rights.accessRights info:eu-repo/semantics/openAccess
  • dc.rights.uri http://creativecommons.org/licenses/by/4.0/
  • dc.subject.keyword Genetic predisposition to disease
  • dc.subject.keyword Genome informatics
  • dc.subject.keyword Genome-wide association studies
  • dc.subject.keyword Predictive markers
  • dc.subject.keyword Risk factors
  • dc.title The Spanish Polygenic Score reference distribution: a resource for personalized medicine
  • dc.type info:eu-repo/semantics/article
  • dc.type.version info:eu-repo/semantics/publishedVersion

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Articles (Departament de Medicina i Ciències de la Vida)
Articles (Center for Genomic Regulation (CRG))