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Biology subjects

Avila Cartes, J. E.

Publications and source records attributed to Avila Cartes, J. E..

2 recordsLinked to original sources

PanSpace: Fast and Scalable Indexing for Massive Bacterial Databases

MotivationSpecies identification is a critical task in agriculture, food processing, and health-care. The rapid growth of genomic databases -- driven in part by the increasing investigation of bacterial genomes in clinical microbiology -- has outpaced the capabilities of conventional tools such as BLAST for basic search and query tasks. A key bottleneck in microbiome studies lies in building indexes that allow rapid species identification and classification from assemblies while scaling efficiently to massive resources such as the AllTheBacteria database, thus enabling large-scale analyses to be performed even on a common laptop. ResultsWe introduce PanSpace, the first convolutional neural network-based approach that leverages dense vector (embedding) indexing --- scalable to billions of embeddings --- for indexing and querying massive bacterial genome databases. PanSpace is specifically designed to classify bacterial draft assemblies. Compared to the most recent and competitive tool for this task, PanSpace requires only ~2 GB of disk space to index the AllTheBacteria database, an 8x reduction relative to existing methods. Moreover, it delivers ultra-fast query performance, processing more than 1,000 assemblies in less than two and a half minutes, while preserving the utmost accuracy of state-of-the-art approaches. AvailabilityPanSpace is available at https://github.com/pg-space/panspace.

genomics↗

PangeBlocks: customized construction of pangenome graphs via maximal blocks

BackgroundThe construction of a pangenome graph is a fundamental task in pangenomics. A natural theoretical question is how to formalize the computational problem of building an optimal pangenome graph, making explicit the underlying optimization criterion and the set of feasible solutions. Current approaches build a pangenome graph with some heuristics, without assuming some explicit optimization criteria. Thus it is unclear how a specific optimization criterion affects the graph topology and downstream analysis, like read mapping and variant calling. MethodsIn this paper, by leveraging the notion of maximal block in a Multiple Sequence Alignment (MSA), we reframe the pangenome graph construction problem as an exact cover problem on blocks called Minimum Weighted Block Cover (MWBC). Then we propose an Integer Linear Programming (ILP) formulation for the MWBC problem that allows us to study the most natural objective functions for building a graph. ResultsWe provide an implementation of the ILP approach for solving the MWBC and we evaluate it on SARS-CoV-2 complete genomes, showing how different objective functions lead to pangenome graphs that have different properties, hinting that the specific downstream task can drive the graph construction phase. ConclusionWe show that a customized construction of a pangenome graph based on selecting objective functions has a direct impact on the resulting graphs. In particular, our formalization of the MWBC problem, based on finding an optimal subset of blocks covering an MSA, paves the way to novel practical approaches to graph representations of an MSA where the user can guide the construction.

bioinformatics↗