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Paperman, C.

Publications and source records attributed to Paperman, C..

2 recordsLinked to original sources

Accelerating k-mer-based sequence filtering

MotivationThe exponential growth of global sequencing data repositories presents both analytical challenges and opportunities. While k-mer-based indexing has improved scalability over traditional alignment for identifying relevant documents, pinpointing the exact sequences matching numerous queries remains a hurdle. In particular, searching for numerous k-mers with a single large query or multiple distinct queries strains existing exact matching tools, whose performance scales poorly with an increasing number of patterns. At the same time, indexing entire vast datasets for infrequent or ad-hoc searches is often resource-prohibitive. Designing fast methods for matching a large number of k-mers without exhaustive pre-indexing is therefore critical. ContributionsWe propose an efficient solution to the problem of k-mer-based sequence filtering: given a set of k-mers of interests and a threshold, quickly evaluate whether an arbitrary sequence has a number of k-mer matches above or below the threshold. Our approach demonstrates how minimizer-based based sketching, alongside SIMD acceleration, can enhance the performance of streaming searches, and is implemented as a Rust tool named K2Rmini. On a consumer laptop, K2Rmini is able to filter long reads at 2 Gbp/s. Availabilityhttps://github.com/Malfoy/K2Rmini.

bioinformatics↗

Vizitig: context-rich exploration of sequencing datasets

Vizitig is the first platform for real-time exploration and querying of DNA and RNA sequence de Bruijn graphs across many samples, unifying visualization, metadata, and flexible search. It constructs compacted colored de Bruijn graphs from raw sequencing reads and reference sequences, then provides an interactive web interface for graph exploration. It integrates raw and reference-based data, handles complex variation, and provides a human-readable feature-based (also referred to as metadata) query language with scalable graph loading. Its domain-specific query language supports composable searches combining sequences of arbitrary size, genomic features such as gene or exon identifiers, and experimental factors such as sample identifier or abundance thresholds. On-demand subgraph loading retrieves only regions of interest, enabling interactive exploration of large datasets in the graphical user interface without loading the entire graph into memory. We demonstrate Vizitig's capabilities through case studies in pantranscriptomics and pangenomics. In pantranscriptomics, we recover fusion transcript breakpoints on long and short reads. In pangenomics, we explore sequence variations across yeast, rice, nematode, and human pangenomes. Vizitig scales from small virus genomes to human-scale pangenomes (our largest experiments comprises up to 20 assembled human haplotypes, on a laptop). Vizitig enables fast, reproducible analysis in both pangenomics and pantranscriptomics while providing a deployable and user-friendly working environment.

bioinformatics↗