Fast and compact matching statistics analytics

Abstract

Motivation: Fast, lightweight methods for comparing the sequence of ever larger assembled genomes from ever growing databases are increasingly needed in the era of accurate long reads and pan-genome initiatives. Matching statistics is a popular method for computing whole-genome phylogenies and for detecting structural rearrangements between two genomes, since it is amenable to fast implementations that require a minimal setup of data structures. However, current implementations use a single core, take too much memory to represent the result, and do not provide efficient ways to analyze the output in order to explore local similarities between the sequences.

Results: We develop practical tools for computing matching statistics between large-scale strings, and for analyzing its values, faster and using less memory than the state-of-the-art. Specifically, we design a parallel algorithm for shared-memory machines that computes matching statistics 30 times faster with 48 cores in the cases that are most difficult to parallelize. We design a lossy compression scheme that shrinks the matching statistics array to a bitvector that takes from 0.8 to 0.2 bits per character, depending on the dataset and on the value of a threshold, and that achieves 0.04 bits per character in some variants. And we provide efficient implementations of range-maximum and range-sum queries that take a few tens of milliseconds while operating on our compact representations, and that allow computing key local statistics about the similarity between two strings. Our toolkit makes construction, storage and analysis of matching statistics arrays practical for multiple pairs of the largest genomes available today, possibly enabling new applications in comparative genomics.

Availability and implementation: Our C/C++ code is available at https://github.com/odenas/indexed_ms under GPL-3.0. The data underlying this article are available in NCBI Genome at https://www.ncbi.nlm.nih.gov/genome and in the International Genome Sample Resource (IGSR) at https://www.internationalgenome.org.

Supplementary information: Supplementary data are available at Bioinformatics online.