A representation of a compressed de Bruijn graph for pan-genome analysis that enables search

Recently, Marcus et al. (Bioinformatics 2014) proposed to use a compressed de Bruijn graph to describe the relationship between the genomes of many individuals/strains of the same or closely related species. They devised an $O(n \log g)$ time algorithm called splitMEM that constructs this graph directly (i.e., without using the uncompressed de Bruijn graph) based on a suffix tree, where $n$ is the total length of the genomes and $g$ is the length of the longest genome. In this paper, we present a construction algorithm that outperforms their algorithm in theory and in practice. Moreover, we propose a new space-efficient representation of the compressed de Bruijn graph that adds the possibility to search for a pattern (e.g. an allele - a variant form of a gene) within the pan-genome.Comment: Submitted to Algorithmica special issue of CPM201

Wavelet Trees Meet Suffix Trees

We present an improved wavelet tree construction algorithm and discuss its applications to a number of rank/select problems for integer keys and strings. Given a string of length n over an alphabet of size $\sigma\leq n$, our method builds the wavelet tree in $O(n \log \sigma/ \sqrt{\log{n}})$ time, improving upon the state-of-the-art algorithm by a factor of $\sqrt{\log n}$. As a consequence, given an array of n integers we can construct in $O(n \sqrt{\log n})$ time a data structure consisting of $O(n)$ machine words and capable of answering rank/select queries for the subranges of the array in $O(\log n / \log \log n)$ time. This is a $\log \log n$-factor improvement in query time compared to Chan and P\u{a}tra\c{s}cu and a $\sqrt{\log n}$-factor improvement in construction time compared to Brodal et al. Next, we switch to stringological context and propose a novel notion of wavelet suffix trees. For a string w of length n, this data structure occupies $O(n)$ words, takes $O(n \sqrt{\log n})$ time to construct, and simultaneously captures the combinatorial structure of substrings of w while enabling efficient top-down traversal and binary search. In particular, with a wavelet suffix tree we are able to answer in $O(\log |x|)$ time the following two natural analogues of rank/select queries for suffixes of substrings: for substrings x and y of w count the number of suffixes of x that are lexicographically smaller than y, and for a substring x of w and an integer k, find the k-th lexicographically smallest suffix of x. We further show that wavelet suffix trees allow to compute a run-length-encoded Burrows-Wheeler transform of a substring x of w in $O(s \log |x|)$ time, where s denotes the length of the resulting run-length encoding. This answers a question by Cormode and Muthukrishnan, who considered an analogous problem for Lempel-Ziv compression.Comment: 33 pages, 5 figures; preliminary version published at SODA 201

Tilatehokas metagenomisten DNA-fragmenttien ryhmittely

The collection of all genomes in an environment is called the metagenome of the environment. In the past 15 years, high-throughput sequencing has made it feasible to sequence entire environments at once for the first time in history, which has resulted in a variety of interesting new algorithmic problems. This thesis focuses on the basic problem of clustering the reads from an environment according to which species, or more generally, taxonomic unit they originate from. In this work, we identify and formalize two fundamental string processing tasks useful in clustering metagenomic read sets. We solve the two problems with space efficiency in mind using the recently developed bidirectional Burrows-Wheeler index. The algorithms were implemented in a way which makes parallel processing possible. Our tool is experimentally shown to give good results for simple simulated datasets, and to use less than 10 times less space and time compared to two recently published metagenome clustering tools.Kaikkien ympäristössä esiintyvien genomien joukkoa kutsutaan kyseisen ympäristön \emph{metagenomiksi}. Viimeisen 15 vuoden aikana kehitetyt korkean läpisyötön sekvenssoriteknologiat ovat mahdollistaneet ensimmäistä kertaa historiassa kokonaisen ympäristön metagenomin kartoittamisen. Tämä kehityssuunta on johtanut uusiin mielenkiintoisiin algoritmisiin ongelmiin. Tämä työ käsittelee ympäristöistä näytteistettyjen DNA-fragmenttejen ryhmittelyä lajien, tai yleisemmin taksonomisten yksiköiden mukaan. Työssä tunnistetaan ja formalisoidaan kaksi merkkijono-ongelmaa, jotka ilmentyvät metagenomisten DNA-fragmentteja ryhmittelyssä. Ongelmiin esitetään tilatehokkaat ratkaisut käyttäen hiljattain kehitettyä kaksisuuntaista Burrows-Wheeler indeksiä. Algoritmit toteutettiin pitäen silmällä rinnakkaista laskentaa. Työssä osoitetaan, että uusi toteutus antaa hyviä tuloksia yksinkertaisille simuloiduille näytteille, ja että työkalu on kymmenen kertaa nopeampi ja tilatehokkaampi, kuin kaksi hiljattain julkaistua metagenomisten näytteiden ryhmittelyyn tarkoitettua työkalua

String Synchronizing Sets: Sublinear-Time BWT Construction and Optimal LCE Data Structure

Burrows-Wheeler transform (BWT) is an invertible text transformation that, given a text $T$ of length $n$, permutes its symbols according to the lexicographic order of suffixes of $T$. BWT is one of the most heavily studied algorithms in data compression with numerous applications in indexing, sequence analysis, and bioinformatics. Its construction is a bottleneck in many scenarios, and settling the complexity of this task is one of the most important unsolved problems in sequence analysis that has remained open for 25 years. Given a binary string of length $n$, occupying $O(n/\log n)$ machine words, the BWT construction algorithm due to Hon et al. (SIAM J. Comput., 2009) runs in $O(n)$ time and $O(n/\log n)$ space. Recent advancements (Belazzougui, STOC 2014, and Munro et al., SODA 2017) focus on removing the alphabet-size dependency in the time complexity, but they still require $\Omega(n)$ time. In this paper, we propose the first algorithm that breaks the $O(n)$-time barrier for BWT construction. Given a binary string of length $n$, our procedure builds the Burrows-Wheeler transform in $O(n/\sqrt{\log n})$ time and $O(n/\log n)$ space. We complement this result with a conditional lower bound proving that any further progress in the time complexity of BWT construction would yield faster algorithms for the very well studied problem of counting inversions: it would improve the state-of-the-art $O(m\sqrt{\log m})$-time solution by Chan and P\v{a}tra\c{s}cu (SODA 2010). Our algorithm is based on a novel concept of string synchronizing sets, which is of independent interest. As one of the applications, we show that this technique lets us design a data structure of the optimal size $O(n/\log n)$ that answers Longest Common Extension queries (LCE queries) in $O(1)$ time and, furthermore, can be deterministically constructed in the optimal $O(n/\log n)$ time.Comment: Full version of a paper accepted to STOC 201

A Faster Implementation of Online Run-Length Burrows-Wheeler Transform

Run-length encoding Burrows-Wheeler Transformed strings, resulting in Run-Length BWT (RLBWT), is a powerful tool for processing highly repetitive strings. We propose a new algorithm for online RLBWT working in run-compressed space, which runs in $O(n\lg r)$ time and $O(r\lg n)$ bits of space, where $n$ is the length of input string $S$ received so far and $r$ is the number of runs in the BWT of the reversed $S$. We improve the state-of-the-art algorithm for online RLBWT in terms of empirical construction time. Adopting the dynamic list for maintaining a total order, we can replace rank queries in a dynamic wavelet tree on a run-length compressed string by the direct comparison of labels in a dynamic list. The empirical result for various benchmarks show the efficiency of our algorithm, especially for highly repetitive strings.Comment: In Proc. IWOCA201

Compressed Full-Text Indexes for Highly Repetitive Collections

This thesis studies problems related to compressed full-text indexes. A full-text index is a data structure for indexing textual (sequence) data, so that the occurrences of any query string in the data can be found efficiently. While most full-text indexes require much more space than the sequences they index, recent compressed indexes have overcome this limitation. These compressed indexes combine a compressed representation of the index with some extra information that allows decompressing any part of the data efficiently. This way, they provide similar functionality as the uncompressed indexes, while using only slightly more space than the compressed data. The efficiency of data compression is usually measured in terms of entropy. While entropy-based estimates predict the compressed size of most texts accurately, they fail with highly repetitive collections of texts. Examples of such collections include different versions of a document and the genomes of a number of individuals from the same population. While the entropy of a highly repetitive collection is usually similar to that of a text of the same kind, the collection can often be compressed much better than the entropy-based estimate. Most compressed full-text indexes are based on the Burrows-Wheeler transform (BWT). Originally intended for data compression, the BWT has deep connections with full-text indexes such as the suffix tree and the suffix array. With some additional information, these indexes can be simulated with the Burrows-Wheeler transform. The first contribution of this thesis is the first BWT-based index that can compress highly repetitive collections efficiently. Compressed indexes allow us to handle much larger data sets than the corresponding uncompressed indexes. To take full advantage of this, we need algorithms for constructing the compressed index directly, instead of first constructing an uncompressed index and then compressing it. The second contribution of this thesis is an algorithm for merging the BWT-based indexes of two text collections. By using this algorithm, we can derive better space-efficient construction algorithms for BWT-based indexes. The basic BWT-based indexes provide similar functionality as the suffix array. With some additional structures, the functionality can be extended to that of the suffix tree. One of the structures is an array storing the lengths of the longest common prefixes of lexicographically adjacent suffixes of the text. The third contribution of this thesis is a space-efficient algorithm for constructing this array, and a new compressed representation of the array. In the case of individual genomes, the highly repetitive collection can be considered a sample from a larger collection. This collection consists of a reference sequence and a set of possible differences from the reference, so that each sequence contains a subset of the differences. The fourth contribution of this thesis is a BWT-based index that extrapolates the larger collection from the sample and indexes it.Tässä väitöskirjassa käsitellään tiivistettyjä kokotekstihakemistoja tekstimuotoisille aineistoille. Kokotekstihakemistot ovat tietorakenteita, jotka mahdollistavat mielivaltaisten hahmojen esiintymien löytämisen tekstistä tehokkaasti. Perinteiset kokotekstihakemistot, kuten loppuosapuut ja -taulukot, vievät moninkertaisesti tilaa itse aineistoon nähden. Viime aikoina on kuitenkin kehitetty tiivistettyjä hakemistorakenteita, jotka tarjoavat vastaavan toiminnallisuuden alkuperäistä tekstiä pienemmässä tilassa. Tämä on mahdollistanut aikaisempaa suurempien aineistojen käsittelyn. Tekstin tiivistyvyyttä mitataan yleensä suhteessa sen entropiaan. Vaikka entropiaan perustuvat arviot ovat useimmilla aineistoilla varsin tarkkoja, aliarvioivat ne vahvasti toisteisien aineistojen tiivistyvyyttä. Esimerkkejä tällaisista aineistoista ovat kokoelmat saman populaation yksilöiden genomeita tai saman dokumentin eri versioita. Siinä missä tällaisen kokoelman entropia suhteessa aineiston kokoon on vastaava kuin yksittäisellä samaa tyyppiä olevalla tekstillä, tiivistyy kokoelma yleensä huomattavasti paremmin kuin entropian perusteella voisi odottaa. Useimmat tiivistetyt kokotekstihakemistot perustuvat Burrows-Wheeler-muunnokseen (BWT), joka kehitettiin alun perin tekstimuotoisten aineistojen tiivistämiseen. Pian kuitenkin havaittiin, että koska BWT muistuttaa rakenteeltaan loppuosapuuta ja -taulukkoa, voidaan sitä käyttää niissä tehtävien hakujen simulointiin. Tässä väitöskirjassa esitetään ensimmäinen BWT-pohjainen kokotekstihakemisto, joka pystyy tiivistämään vahvasti toisteiset aineistot tehokkaasti. Tiivistettyjen tietorakenteiden käyttö mahdollistaa suurempien aineistoiden käsittelemisen kuin tavallisia tietorakenteita käytettäessä. Tämä etu kuitenkin menetetään, jos tiivistetty tietorakenne muodostetaan luomalla ensin vastaava tavallinen tietorakenne ja tiivistämällä se. Tässä väitöskirjassa esitetään aikaisempaa vähemmän muistia käyttäviä algoritmeja BWT-pohjaisten kokotekstihakemistojen muodostamiseen. Kokoelma yksilöiden genomeita voidaan käsittää otokseksi suuremmasta kokoelmasta, joka koostuu populaation kaikkien yksilöiden sekä niiden hypoteettisten jälkeläisten genomeista. Tällainen kokoelma voidaan esittää äärellisenä automaattina, joka muodostuu referenssigenomista ja yksilöiden genomeissa esiintyvistä poikkeamista referenssistä. Tässä väitöskirjassa esitetään BWT-pohjaisten kokotekstihakemistojen yleistys, joka mahdollistaa tällaisten automaattien indeksoinnin