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The design and construction of reference pangenome graphs

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arxiv 2003.06079 v1 pith:2G2LZ6DE submitted 2020-03-13 q-bio.GN

The design and construction of reference pangenome graphs

classification q-bio.GN
keywords referencegenomesgenomemultiplepangenomeaccessibleadvancesassembly
verification ladder T0 review T1 audit T2 compute T3 formal T4 reserved
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The recent advances in sequencing technologies enables the assembly of individual genomes to the reference quality. How to integrate multiple genomes from the same species and to make the integrated representation accessible to biologists remain 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 implemented 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.

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