Search bioRxiv⌕ Search

Biology subjects

Tomescu, A. I.

Publications and source records attributed to Tomescu, A. I..

2 recordsLinked to original sources

GraphChainer: Co-linear Chaining for Accurate Alignment of Long Reads to Variation Graphs

Aligning reads to a variation graph is a standard task in pangenomics, with downstream applications such as improving variant calling. While the vg toolkit (Garrison et al., Nature Biotechnology, 2018) is a popular aligner of short reads, GraphAligner (Rautiainen and Marschall, Genome Biology, 2020) is the state-of-the-art aligner of erroneous long reads. GraphAligner works by finding candidate read occurrences based on individually extending the best seeds of the read in the variation graph. However, a more principled approach recognized in the community is to co-linearly chain multiple seeds. We present a new algorithm to co-linearly chain a set of seeds in a string labeled acyclic graph, together with the first efficient implementation of such a co-linear chaining algorithm into a new aligner of erroneous long reads to acyclic variation graphs, GraphChainer. Compared to GraphAligner, GraphChainer aligns 12% to 17% more reads, and 21% to 28% more total read length, on real PacBio reads from human chromosomes 1, 22 and the whole human pangenome. On both simulated and real data, GraphChainer aligns between 95% and 99% of all reads, and of total read length. We also show that minigraph (Li et al., Genome Biology, 2020) and minichain (Chandra and Jain, RECOMB, 2023) obtain an accuracy of less than 60% on this setting. GraphChainer is freely available at https://github.com/algbio/GraphChainer. The datasets and evaluation pipeline can be reached from the previous address.

bioinformatics↗

Matchtigs: minimum plain text representation of kmer sets

We propose a polynomial algorithm computing a minimum plain-text representation of kmer sets, as well as an efficient near-minimum greedy heuristic. When compressing read sets of large model organisms or bacterial pangenomes, with only a minor runtime increase, we shrink the representation by up to 60% over unitigs and 27% over previous work. Additionally, the number of strings is decreased by up to 97% over unitigs and 91% over previous work. Finally, a small representation has advantages in downstream applications, as it speeds up SSHash-Lite queries by up to 4.26x over unitigs and 2.10x over previous work. Availabilitymatchtigs: https://github.com/algbio/matchtigs SSHash-Lite: https://github.com/jermp/sshash-lite

bioinformatics↗