Characterization of the common genetic variation in the spanish population of Navarre
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- dc.contributor.author Maillo, Alberto
- dc.contributor.author Beltran, Sergi
- dc.contributor.author Gómez Cabrero, David
- dc.date.accessioned 2024-09-04T07:16:11Z
- dc.date.available 2024-09-04T07:16:11Z
- dc.date.issued 2024
- dc.description.abstract Large-scale genomic studies have significantly increased our knowledge of genetic variability across populations. Regional genetic profiling is essential for distinguishing common benign variants from disease-causing ones. To this end, we conducted a comprehensive characterization of exonic variants in the population of Navarre (Spain), utilizing whole genome sequencing data from 358 unrelated individuals of Spanish origin. Our analysis revealed 61,410 biallelic single nucleotide variants (SNV) within the Navarrese cohort, with 35% classified as common (MAF > 1%). By comparing allele frequency data from 1000 Genome Project (excluding the Iberian cohort of Spain, IBS), Genome Aggregation Database, and a Spanish cohort (including IBS individuals and data from Medical Genome Project), we identified 1069 SNVs common in Navarre but rare (MAF ≤ 1%) in all other populations. We further corroborated this observation with a second regional cohort of 239 unrelated exomes, which confirmed 676 of the 1069 SNVs as common in Navarre. In conclusion, this study highlights the importance of population-specific characterization of genetic variation to improve allele frequency filtering in sequencing data analysis to identify disease-causing variants.
- dc.description.sponsorship NAGEN1000 and pharmaNAGEN were supported by Navarra Gov (Dirección General de Industria, Energia y Proyectos Estrategicos S3). GRANTS_NUMBERS: 0011-1411-2017-000032, 0011-1411-2018-000047. M.A.-R has a Postdoctoral Junior Leader—INCOMMING Fellowship from “la Caixa” Foundation (ID: 100010434) and from the European Union’s Horizon 2020 research and innovation programme under the Marie Skłodowska Curie grant agreement No. 847648 (fellowship code: LCF/BQ/PI21/11830009).
- dc.format.mimetype application/pdf
- dc.identifier.citation Maillo A, Huergo E, Apellániz-Ruiz M, Urrutia-Lafuente E, Miranda M, Salgado J, et al. Characterization of the common genetic variation in the spanish population of Navarre. Genes (Basel). 2024 May 4;15(5):585. DOI: 10.3390/genes15050585
- dc.identifier.doi http://dx.doi.org/10.3390/genes15050585
- dc.identifier.issn 2073-4425
- dc.identifier.uri http://hdl.handle.net/10230/60999
- dc.language.iso eng
- dc.publisher MDPI
- dc.relation.ispartof Genes (Basel). 2024 May 4;15(5):585
- dc.relation.projectID info:eu-repo/grantAgreement/EC/H2020/847648
- dc.rights © 2024 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://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 variability
- dc.subject.keyword Personalized medicine
- dc.subject.keyword Population frequencies
- dc.subject.keyword Single nucleotide variant SNV
- dc.subject.keyword Whole exome sequencing WES
- dc.subject.keyword Whole genome sequencing WGS
- dc.title Characterization of the common genetic variation in the spanish population of Navarre
- dc.type info:eu-repo/semantics/article
- dc.type.version info:eu-repo/semantics/publishedVersion