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Garrison E, Guarracino A, Heumos S, Villani F, Bao Z, Tattini L, Hagmann J, Vorbrugg S, Marco-Sola S, Kubica C, Ashbrook DG, Thorell K, Rusholme-Pilcher RL, Liti G, Rudbeck E, Golicz AA, Nahnsen S, Yang Z, Mwaniki MN, Nobrega FL, Wu Y, Chen H, de Ligt J, Sudmant PH, Huang S, Weigel D, Soranzo N, Colonna V, Williams RW, Prins P
Nat. Methods - (-) - [2024-10-21; online 2024-10-21]
Pangenome graphs can represent all variation between multiple reference genomes, but current approaches to build them exclude complex sequences or are based upon a single reference. In response, we developed the PanGenome Graph Builder, a pipeline for constructing pangenome graphs without bias or exclusion. The PanGenome Graph Builder uses all-to-all alignments to build a variation graph in which we can identify variation, measure conservation, detect recombination events and infer phylogenetic relationships.
Clinical Genomics Gothenburg [Service]
PubMed 39433878
DOI 10.1038/s41592-024-02430-3
Crossref 10.1038/s41592-024-02430-3
pii: 10.1038/s41592-024-02430-3