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Biology subjects

Andreace, F.

Publications and source records attributed to Andreace, F..

2 recordsLinked to original sources

The Backpack Quotient Filter: a dynamic and space-efficient data structure for querying k-mers with abundance.

Genomic data sequencing has become indispensable for elucidating the complexities of biological systems. As databases storing genomic information, such as the European Nucleotide Archive, continue to grow exponentially, efficient solutions for data manipulation are imperative. One funda-mental operation that remains challenging is querying these databases to determine the presence or absence of specific sequences and their abundance within datasets. This paper introduces a novel data structure indexing k-mers (substrings of length k), the Back-pack Quotient Filter (BQF), which serves as an alternative to the Counting Quotient Filter (CQF). The BQF offers enhanced space efficiency compared to the CQF while retaining key properties, including abundance information and dynamicity, with a negligible false positive rate, below 10-5%. The approach involves a redefinition of how abundance information is handled within the structure, alongside with an independent strategy for space efficiency. We show that the BQF uses 4x less space than the CQF on some of the most complex data to index: sea-water metagenomics sequences. Furthermore, we show that space efficiency increases as the amount of data to be indexed increases, which is in line with the original objective of scaling to ever-larger datasets. Availabilityhttps://github.com/vicLeva/bqf

bioinformatics↗

Construction and representation of human pangenome graphs

As a single reference genome cannot possibly represent all the variation present across human individuals, pangenome graphs have been introduced to incorporate population diversity within a wide range of genomic analyses. Several data structures have been proposed for representing collections of genomes as pangenomes, in particular graphs. In this work we collect all publicly available high-quality human haplotypes and constructed the largest human pangenome graphs to date, incorporating 52 individuals in addition to two synthetic references (CHM13 and GRCh38). We build variation graphs and de Bruijn graphs of this collection using five of the state-of-the-art tools: Bifrost, mdbg, Minigraph, Minigraph-Cactus and pggb. We examine differences in the way each of these tools represents variations between input sequences, both in terms of overall graph structure and representation of specific genetic loci. This work sheds light on key differences between pangenome graph representations, informing end-users on how to select the most appropriate graph type for their application.

bioinformatics↗