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The design and construction of reference pangenome graphs with minigraph.

ABSTRACT: The recent advances in sequencing technologies enable the assembly of individual genomes to the quality of the reference genome. How to integrate multiple genomes from the same species and make the integrated representation accessible to biologists remains an open challenge. Here, we propose a graph-based data model and associated formats to represent multiple genomes while preserving the coordinate of the linear reference genome. We implement our ideas in the minigraph toolkit and demonstrate that we can efficiently construct a pangenome graph and compactly encode tens of thousands of structural variants missing from the current reference genome.

SUBMITTER: Li H

PROVIDER: S-EPMC7568353 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature

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The design and construction of reference pangenome graphs with minigraph.

Li Heng H Feng Xiaowen X Chu Chong C

Genome biology 20201016 1

The recent advances in sequencing technologies enable the assembly of individual genomes to the quality of the reference genome. How to integrate multiple genomes from the same species and make the integrated representation accessible to biologists remains an open challenge. Here, we propose a graph-based data model and associated formats to represent multiple genomes while preserving the coordinate of the linear reference genome. We implement our ideas in the minigraph toolkit and demonstrate t ...[more]

PMID: 33066802

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