Prospects and limitations of full-text index structures in genome analysis

The combination of incessant advances in sequencing technology producing large amounts of data and innovative bioinformatics approaches, designed to cope with this data flood, has led to new interesting results in the life sciences. Given the magnitude of sequence data to be processed, many bioinformatics tools rely on efficient solutions to a variety of complex string problems. These solutions include fast heuristic algorithms and advanced data structures, generally referred to as index structures. Although the importance of index structures is generally known to the bioinformatics community, the design and potency of these data structures, as well as their properties and limitations, are less understood. Moreover, the last decade has seen a boom in the number of variant index structures featuring complex and diverse memory-time trade-offs. This article brings a comprehensive state-of-the-art overview of the most popular index structures and their recently developed variants. Their features, interrelationships, the trade-offs they impose, but also their practical limitations, are explained and compared

LRM-Trees: Compressed Indices, Adaptive Sorting, and Compressed Permutations

LRM-Trees are an elegant way to partition a sequence of values into sorted consecutive blocks, and to express the relative position of the first element of each block within a previous block. They were used to encode ordinal trees and to index integer arrays in order to support range minimum queries on them. We describe how they yield many other convenient results in a variety of areas, from data structures to algorithms: some compressed succinct indices for range minimum queries; a new adaptive sorting algorithm; and a compressed succinct data structure for permutations supporting direct and indirect application in time all the shortest as the permutation is compressible.Comment: 13 pages, 1 figur

The Wavelet Trie: Maintaining an Indexed Sequence of Strings in Compressed Space

An indexed sequence of strings is a data structure for storing a string sequence that supports random access, searching, range counting and analytics operations, both for exact matches and prefix search. String sequences lie at the core of column-oriented databases, log processing, and other storage and query tasks. In these applications each string can appear several times and the order of the strings in the sequence is relevant. The prefix structure of the strings is relevant as well: common prefixes are sought in strings to extract interesting features from the sequence. Moreover, space-efficiency is highly desirable as it translates directly into higher performance, since more data can fit in fast memory. We introduce and study the problem of compressed indexed sequence of strings, representing indexed sequences of strings in nearly-optimal compressed space, both in the static and dynamic settings, while preserving provably good performance for the supported operations. We present a new data structure for this problem, the Wavelet Trie, which combines the classical Patricia Trie with the Wavelet Tree, a succinct data structure for storing a compressed sequence. The resulting Wavelet Trie smoothly adapts to a sequence of strings that changes over time. It improves on the state-of-the-art compressed data structures by supporting a dynamic alphabet (i.e. the set of distinct strings) and prefix queries, both crucial requirements in the aforementioned applications, and on traditional indexes by reducing space occupancy to close to the entropy of the sequence

Fully-Functional Suffix Trees and Optimal Text Searching in BWT-runs Bounded Space

Indexing highly repetitive texts - such as genomic databases, software repositories and versioned text collections - has become an important problem since the turn of the millennium. A relevant compressibility measure for repetitive texts is r, the number of runs in their Burrows-Wheeler Transforms (BWTs). One of the earliest indexes for repetitive collections, the Run-Length FM-index, used O(r) space and was able to efficiently count the number of occurrences of a pattern of length m in the text (in loglogarithmic time per pattern symbol, with current techniques). However, it was unable to locate the positions of those occurrences efficiently within a space bounded in terms of r. In this paper we close this long-standing problem, showing how to extend the Run-Length FM-index so that it can locate the occ occurrences efficiently within O(r) space (in loglogarithmic time each), and reaching optimal time, O(m + occ), within O(r log log w ({\sigma} + n/r)) space, for a text of length n over an alphabet of size {\sigma} on a RAM machine with words of w = {\Omega}(log n) bits. Within that space, our index can also count in optimal time, O(m). Multiplying the space by O(w/ log {\sigma}), we support count and locate in O(dm log({\sigma})/we) and O(dm log({\sigma})/we + occ) time, which is optimal in the packed setting and had not been obtained before in compressed space. We also describe a structure using O(r log(n/r)) space that replaces the text and extracts any text substring of length ` in almost-optimal time O(log(n/r) + ` log({\sigma})/w). Within that space, we similarly provide direct access to suffix array, inverse suffix array, and longest common prefix array cells, and extend these capabilities to full suffix tree functionality, typically in O(log(n/r)) time per operation.Comment: submitted version; optimal count and locate in smaller space: O(r log log_w(n/r + sigma)

From Theory to Practice: Plug and Play with Succinct Data Structures

Engineering efficient implementations of compact and succinct structures is a time-consuming and challenging task, since there is no standard library of easy-to- use, highly optimized, and composable components. One consequence is that measuring the practical impact of new theoretical proposals is a difficult task, since older base- line implementations may not rely on the same basic components, and reimplementing from scratch can be very time-consuming. In this paper we present a framework for experimentation with succinct data structures, providing a large set of configurable components, together with tests, benchmarks, and tools to analyze resource requirements. We demonstrate the functionality of the framework by recomposing succinct solutions for document retrieval.Comment: 10 pages, 4 figures, 3 table

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

A practical index for approximate dictionary matching with few mismatches

Approximate dictionary matching is a classic string matching problem (checking if a query string occurs in a collection of strings) with applications in, e.g., spellchecking, online catalogs, geolocation, and web searchers. We present a surprisingly simple solution called a split index, which is based on the Dirichlet principle, for matching a keyword with few mismatches, and experimentally show that it offers competitive space-time tradeoffs. Our implementation in the C++ language is focused mostly on data compaction, which is beneficial for the search speed (e.g., by being cache friendly). We compare our solution with other algorithms and we show that it performs better for the Hamming distance. Query times in the order of 1 microsecond were reported for one mismatch for the dictionary size of a few megabytes on a medium-end PC. We also demonstrate that a basic compression technique consisting in $q$-gram substitution can significantly reduce the index size (up to 50% of the input text size for the DNA), while still keeping the query time relatively low