Sequence diversity of the uniparentally transmitted portions of the genome in the resident population of Catalonia

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  • dc.contributor.author Font-Porterias, Neus
  • dc.contributor.author García-Fernández, Carla
  • dc.contributor.author Aizpurua-Iraola, Julen
  • dc.contributor.author Comas, David, 1969-
  • dc.contributor.author Torrents, David
  • dc.contributor.author Cid Ibeas, Rafael de
  • dc.contributor.author Calafell i Majó, Francesc
  • dc.date.accessioned 2022-11-16T07:38:03Z
  • dc.date.available 2022-11-16T07:38:03Z
  • dc.date.issued 2022
  • dc.description.abstract Genomic reference databases of residing populations are available in different countries and regions. Since they represent the whole genetic diversity of a geographical region, they have wide applications, from biomedical studies to forensic identifications. Uniparentally transmitted portions of the genome specifically are highly suitable for kinship analyses, mixed DNA cases and geographical ancestry inferences. We have sampled 808 individuals currently residing in Catalonia within the GCAT cohort, from which we have generated 808 high-quality whole mitochondrial DNA (mtDNA) genomes and 399 sequences of the male-specific part of the Y chromosome (MSY). We observe higher genetic diversity than in classical population genetics datasets. We test the robustness of whole sequences for unequivocal identifications, and we found that they have higher resolution than mitochondrial control region and Y chromosome short tandem repeats (Y-STRs), and that most of the variants they present are at low frequencies, increasing the discrimination capacity between individuals. These results confirm the forensic applicability of whole uniparental sequences and provide one of the largest high-quality reference datasets ever published.
  • dc.description.sponsorship This work was supported by the Spanish Ministry of Economy and Competitiveness and Agencia Estatal de Investigación (grant numbers CGL2016–75389-P (MINEICO/FEDER, UE), PID2019–106485 GB-I00/AEI/10.13039/501100011033 (MINEICO), and “Unidad María de Maeztu” (CEX2018–000792-M) to FC and DC; and Agència de Gestió d’Ajuts Universitaris i de la Recerca (Generalitat de Catalunya, grant 2017SGR00702). Computing time at Barcelona Supercomputing Centre was granted by Red Española de Supercomputación (BCV-2019–3-00002). NF-P was supported by a FPU17/03501 fellowship. This study makes use of data generated by the GCAT=Genomes for Life. Cohort study of the Genomes of Catalonia, Fundacio IGTP with registration number PI-2018–03. IGTP is part of the CERCA Program / Generalitat de Catalunya. GCAT is supported by Acción de Dinamización del ISCIII-MINECO and the Ministry of Health of the Generalitat of Catalunya (ADE 10/00026) and; the Agència de Gestió d’Ajuts Universitaris i de Recerca (AGAUR) (2017-SGR 529).
  • dc.format.mimetype application/pdf
  • dc.identifier.citation Font-Porterias N, García-Fernández C, Aizpurua-Iraola J, Comas D, Torrents D, de Cid R, Calafell F. Sequence diversity of the uniparentally transmitted portions of the genome in the resident population of Catalonia. Forensic Sci Int Genet. 2022 Nov;61:102783. DOI: 10.1016/j.fsigen.2022.102783
  • dc.identifier.doi http://dx.doi.org/10.1016/j.fsigen.2022.102783
  • dc.identifier.issn 1872-4973
  • dc.identifier.uri http://hdl.handle.net/10230/54886
  • dc.language.iso eng
  • dc.publisher Elsevier
  • dc.relation.ispartof Forensic Sci Int Genet. 2022 Nov;61:102783
  • dc.relation.projectID info:eu-repo/grantAgreement/ES/1PE/CGL2016–75389-P
  • dc.relation.projectID info:eu-repo/grantAgreement/ES/2PE/PID2019–106485 GB-I00
  • dc.rights © 2022 The Author(s). Published by Elsevier B.V. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by- nc-nd/4.0/).
  • dc.rights.accessRights info:eu-repo/semantics/openAccess
  • dc.rights.uri http://creativecommons.org/licenses/by-nc-nd/4.0/
  • dc.subject.keyword Catalonia
  • dc.subject.keyword Genetic census
  • dc.subject.keyword Mitochondrial DNA
  • dc.subject.keyword Whole uniparental sequences
  • dc.subject.keyword Y-chromosome
  • dc.title Sequence diversity of the uniparentally transmitted portions of the genome in the resident population of Catalonia
  • dc.type info:eu-repo/semantics/article
  • dc.type.version info:eu-repo/semantics/publishedVersion

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