SPRISS: approximating frequent k-mers by sampling reads, and applications

Abstract

Abstract Motivation The extraction of k-mers is a fundamental component in many complex analyses of large next-generation sequencing datasets, including reads classification in genomics and the characterization of RNA-seq datasets. The extraction of all k-mers and their frequencies is extremely demanding in terms of running time and memory, owing to the size of the data and to the exponential number of k-mers to be considered. However, in several applications, only frequent k-mers, which are k-mers appearing in a relatively high proportion of the data, are required by the analysis. Results In this work, we present SPRISS, a new efficient algorithm to approximate frequent k-mers and their frequencies in next-generation sequencing data. SPRISS uses a simple yet powerful reads sampling scheme, which allows to extract a representative subset of the dataset that can be used, in combination with any k-mer counting algorithm, to perform downstream analyses in a fraction of the time required by the analysis of the whole data, while obtaining comparable answers. Our extensive experimental evaluation demonstrates the efficiency and accuracy of SPRISS in approximating frequent k-mers, and shows that it can be used in various scenarios, such as the comparison of metagenomic datasets, the identification of discriminative k-mers, and SNP (single nucleotide polymorphism) genotyping, to extract insights in a fraction of the time required by the analysis of the whole dataset. Availability and implementation SPRISS [a preliminary version (Santoro et al., 2021) of this work was presented at RECOMB 2021] is available at https://github.com/VandinLab/SPRISS. Supplementary information Supplementary data are available at Bioinformatics online.