On the combinatorics of suffix arrays

We prove several combinatorial properties of suffix arrays, including a characterization of suffix arrays through a bijection with a certain well-defined class of permutations. Our approach is based on the characterization of Burrows-Wheeler arrays given in [1], that we apply by reducing suffix sorting to cyclic shift sorting through the use of an additional sentinel symbol. We show that the characterization of suffix arrays for a special case of binary alphabet given in [2] easily follows from our characterization. Based on our results, we also provide simple proofs for the enumeration results for suffix arrays, obtained in [3]. Our approach to characterizing suffix arrays is the first that exploits their relationship with Burrows-Wheeler permutations

When a Dollar Makes a BWT

TheBurrows-Wheeler-Transform(BWT)isareversiblestring transformation which plays a central role in text compression and is fun- damental in many modern bioinformatics applications. The BWT is a permutation of the characters, which is in general better compressible and allows to answer several different query types more efficiently than the original string. It is easy to see that not every string is a BWT image, and exact charac- terizations of BWT images are known. We investigate a related combi- natorial question. In many applications, a sentinel character $is added to mark the end of the string, and thus the BWT of a string ending with$ contains exactly one $character. We ask, given a string w, in which positions, if any, can the$-character be inserted to turn w into the BWT image of a word ending with the sentinel character. We show that this depends only on the standard permutation of w and give a combinatorial characterization of such positions via this permutation. We then develop an O(n log n)-time algorithm for identifying all such positions, improving on the naive quadratic time algorithm

Computing the original eBWT faster, simpler, and with less memory

Mantaci et al. [TCS 2007] defined the eBWT to extend the definition of the BWT to a collection of strings, however, since this introduction, it has been used more generally to describe any BWT of a collection of strings and the fundamental property of the original definition (i.e., the independence from the input order) is frequently disregarded. In this paper, we propose a simple linear-time algorithm for the construction of the original eBWT, which does not require the preprocessing of Bannai et al. [CPM 2021]. As a byproduct, we obtain the first linear-time algorithm for computing the BWT of a single string that uses neither an end-of-string symbol nor Lyndon rotations. We combine our new eBWT construction with a variation of prefix-free parsing to allow for scalable construction of the eBWT. We evaluate our algorithm (pfpebwt) on sets of human chromosomes 19, Salmonella, and SARS-CoV2 genomes, and demonstrate that it is the fastest method for all collections, with a maximum speedup of 7.6x on the second best method. The peak memory is at most 2x larger than the second best method. Comparing with methods that are also, as our algorithm, able to report suffix array samples, we obtain a 57.1x improvement in peak memory. The source code is publicly available at https://github.com/davidecenzato/PFP-eBWT.Comment: 20 pages, 5 figures, 1 tabl

r-indexing the eBWT

The extended Burrows-Wheeler Transform (eBWT) [Mantaci et al. TCS 2007] is a variant of the BWT, introduced for collections of strings. In this paper, we present the extended r-index, an analogous data structure to the r-index [Gagie et al. JACM 2020]. It occupies O(r) words, with r the number of runs of the eBWT, and offers the same functionalities as the r-index. We also show how to efficiently support finding maximal exact matches (MEMs). We implemented the extended r-index and tested it on circular bacterial genomes and plasmids, comparing it to five state-of-the-art compressed text indexes. While our data structure maintains similar time and memory requirements for answering pattern matching queries as the original r-index, it is the only index in the literature that can naturally be used for both circular and linear input collections. This is an extended version of [Boucher et al., r-indexing the eBWT, SPIRE 2021]

Novel computational techniques for mapping and classifying Next-Generation Sequencing data

Since their emergence around 2006, Next-Generation Sequencing technologies have been revolutionizing biological and medical research. Quickly obtaining an extensive amount of short or long reads of DNA sequence from almost any biological sample enables detecting genomic variants, revealing the composition of species in a metagenome, deciphering cancer biology, decoding the evolution of living or extinct species, or understanding human migration patterns and human history in general. The pace at which the throughput of sequencing technologies is increasing surpasses the growth of storage and computer capacities, which creates new computational challenges in NGS data processing. In this thesis, we present novel computational techniques for read mapping and taxonomic classification. With more than a hundred of published mappers, read mapping might be considered fully solved. However, the vast majority of mappers follow the same paradigm and only little attention has been paid to non-standard mapping approaches. Here, we propound the so-called dynamic mapping that we show to significantly improve the resulting alignments compared to traditional mapping approaches. Dynamic mapping is based on exploiting the information from previously computed alignments, helping to improve the mapping of subsequent reads. We provide the first comprehensive overview of this method and demonstrate its qualities using Dynamic Mapping Simulator, a pipeline that compares various dynamic mapping scenarios to static mapping and iterative referencing. An important component of a dynamic mapper is an online consensus caller, i.e., a program collecting alignment statistics and guiding updates of the reference in the online fashion. We provide Ococo, the first online consensus caller that implements a smart statistics for individual genomic positions using compact bit counters. Beyond its application to dynamic mapping, Ococo can be employed as an online SNP caller in various analysis pipelines, enabling SNP calling from a stream without saving the alignments on disk. Metagenomic classification of NGS reads is another major topic studied in the thesis. Having a database with thousands of reference genomes placed on a taxonomic tree, the task is to rapidly assign a huge amount of NGS reads to tree nodes, and possibly estimate the relative abundance of involved species. In this thesis, we propose improved computational techniques for this task. In a series of experiments, we show that spaced seeds consistently improve the classification accuracy. We provide Seed-Kraken, a spaced seed extension of Kraken, the most popular classifier at present. Furthermore, we suggest ProPhyle, a new indexing strategy based on a BWT-index, obtaining a much smaller and more informative index compared to Kraken. We provide a modified version of BWA that improves the BWT-index for a quick k-mer look-up