Pangenome graphs and their applications in biodiversity genomics

Secomandi, Simona; Gallo, Guido Roberto; Rossi, Riccardo; FERNANDES, CARLOS; Jarvis, Erich D.; Bonisoli-Alquati, Andrea; Gianfranceschi, Luca; Formenti, Giulio

http://hdl.handle.net/10400.5/97546

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Autores

Bonisoli-Alquati, Andrea

Gianfranceschi, Luca

Formenti, Giulio

Resumo(s)

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.

URI

http://hdl.handle.net/10400.5/97546

Citação

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

Editora

Nature Research

DOI

10.1038/s41588-024-02029-6

Coleções

cE3c - Artigos em Revistas Internacionais

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