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Pangenome graphs and their applications in biodiversity genomics.

Nature genetics - 1 Jan 2025

Secomandi Simona, Gallo Guido Roberto, Rossi Riccardo, Rodríguez Fernandes Carlos, Jarvis Erich D, Bonisoli-Alquati Andrea, Gianfranceschi Luca, Formenti Giulio

Abstract excerpt

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...

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PMID: 39779953
DOI: 10.1038/s41588-024-02029-6

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