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.

/pdf/the-design-and-construction-of-reference-pangenome-graphs-996hc42t9j.pdf

The design and construction of reference pangenome graphs with minigraph

Wheeler graphs: A framework for BWT-based data structures

Variation graphs, which represent genetic variation within a population, are replacing sequences as reference genomes. Path indexes are one of the most important tools for working with variation graphs. They generalize text indexes to graphs, allowing one to find the paths matching the query string. We propose using de Bruijn graphs as path indexes, compressing them by merging redundant subgraphs, and encoding them with the Burrows-Wheeler transform. The resulting fast, space-efficient, and versatile index is used in the variation graph toolkit vg.

Indexing Variation Graphs.

Indexing Variation Graphs

Pattern matching on a set of similar texts has received much attention, especially recently, mainly due to its application in cataloguing human genetic variation. In particular, many different algorithms have been proposed for the off-line version of this problem; that is, constructing a compressed index for a set of similar texts in order to answer pattern matching queries efficiently. However, the on-line, more fundamental, version of this problem is a rather undeveloped topic. Solutions to the on-line version can be beneficial for a number of reasons; for instance, efficient on-line solutions can be used in combination with partial indexes as practical trade-offs. We make here an attempt to close this gap via proposing two efficient algorithms for this problem. Notably, one of the algorithms requires time linear in the size of the texts' representation, for short patterns. Furthermore, experimental results confirm our theoretical findings in practical terms.

/pdf/on-line-pattern-matching-on-similar-texts-3iwjijn64p.pdf

On-line pattern matching on similar texts

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