文献类型: 外文期刊
作者: Garrison, Erik;Guarracino, Andrea;Heumos, Simon;Villani, Flavia;Bao, Zhigui;Tattini, Lorenzo;Hagmann, Joerg;Vorbrugg, Sebastian;Marco-Sola, Santiago;Kubica, Christian;Ashbrook, David G.;Thorell, Kaisa;Rusholme-Pilcher, Rachel L.;Liti, Gianni;Rudbeck, Emilio;Golicz, Agnieszka A.;Nahnsen, Sven;Yang, Zuyu;Mwaniki, Moses Njagi;Nobrega, Franklin L.;Wu, Yi;Chen, Hao;de Ligt, Joep;Sudmant, Peter H.;Huang, Sanwen;Weigel, Detlef;Soranzo, Nicole;Colonna, Vincenza;Williams, Robert W.;Prins, Pjotr
作者机构:
期刊名称: NATURE METHODS
ISSN: 1548-7091
年卷期: 2024 年
页码:
收录情况: SCIE(2024版)
摘要: 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. PGGB is a modular framework for efficiently building unbiased pangenome graphs, supporting diverse downstream analyses.
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