Publicação
Pangenome graphs and their applications in biodiversity genomics
| dc.contributor.author | Secomandi, Simona | |
| dc.contributor.author | Gallo, Guido Roberto | |
| dc.contributor.author | Rossi, Riccardo | |
| dc.contributor.author | FERNANDES, CARLOS | |
| dc.contributor.author | Jarvis, Erich D. | |
| dc.contributor.author | Bonisoli-Alquati, Andrea | |
| dc.contributor.author | Gianfranceschi, Luca | |
| dc.contributor.author | Formenti, Giulio | |
| dc.date.accessioned | 2025-01-22T17:55:33Z | |
| dc.date.available | 2025-07-01T00:31:06Z | |
| dc.date.issued | 2025-01 | |
| dc.description.abstract | Complete datasets of genetic variants are key to biodiversity genomic studies. Long-read sequencing technologies allow the routine assembly of highly contiguous, haplotype-resolved reference genomes. However, even when complete, reference genomes from a single individual may bias downstream analyses and fail to adequately represent genetic diversity within a population or species. Pangenome graphs assembled from aligned collections of high-quality genomes can overcome representation bias by integrating sequence information from multiple genomes from the same population, species or genus into a single reference. Here, we review the available tools and data structures to build, visualize and manipulate pangenome graphs while providing practical examples and discussing their applications in biodiversity and conservation genomics across the tree of life. | pt_PT |
| dc.description.version | info:eu-repo/semantics/acceptedVersion | pt_PT |
| dc.identifier.citation | Secomandi, S., Gallo, G.R., Rossi, R. et al. Pangenome graphs and their applications in biodiversity genomics. Nat Genet 57, 13–26 (2025). https://doi.org/10.1038/s41588-024-02029-6 | pt_PT |
| dc.identifier.doi | 10.1038/s41588-024-02029-6 | pt_PT |
| dc.identifier.uri | http://hdl.handle.net/10400.5/97546 | |
| dc.language.iso | eng | pt_PT |
| dc.peerreviewed | yes | pt_PT |
| dc.publisher | Nature Research | pt_PT |
| dc.relation | Fundação para a Ciência e a Tecnologia for Portuguese National Funds attributed to CE3C within the projects UIDB/00329/2020, UIDP/00329/2020 and LA/P/0121/2020 | pt_PT |
| dc.title | Pangenome graphs and their applications in biodiversity genomics | pt_PT |
| dc.type | journal article | |
| dspace.entity.type | Publication | |
| oaire.citation.endPage | 26 | pt_PT |
| oaire.citation.issue | 1 | pt_PT |
| oaire.citation.startPage | 13 | pt_PT |
| oaire.citation.title | Nature Genetics | pt_PT |
| oaire.citation.volume | 57 | pt_PT |
| person.familyName | CARDOSO FERNANDES | |
| person.givenName | CARLOS ANTÓNIO | |
| person.identifier.ciencia-id | 1413-384C-9C3D | |
| person.identifier.orcid | 0000-0001-5332-842X | |
| rcaap.embargofct | O tipo de licença envolvido com a editora Nature Research para esta revista, não envolvendo pagamento (APC), apenas permite acesso em repositório público do formato 'aceite' (i.e não editado e paginado pela editora) após período de embargo de 6 meses após a data da sua publicação final | pt_PT |
| rcaap.rights | openAccess | pt_PT |
| rcaap.type | article | pt_PT |
| relation.isAuthorOfPublication | 7091558b-1804-4735-8e54-5279b7229c0a | |
| relation.isAuthorOfPublication.latestForDiscovery | 7091558b-1804-4735-8e54-5279b7229c0a |