Indexing large genome collections on a PC

Motivation: The availability of thousands of invidual genomes of one species should boost rapid progress in personalized medicine or understanding of the interaction between genotype and phenotype, to name a few applications. A key operation useful in such analyses is aligning sequencing reads against a collection of genomes, which is costly with the use of existing algorithms due to their large memory requirements. Results: We present MuGI, Multiple Genome Index, which reports all occurrences of a given pattern, in exact and approximate matching model, against a collection of thousand(s) genomes. Its unique feature is the small index size fitting in a standard computer with 16--32\,GB, or even 8\,GB, of RAM, for the 1000GP collection of 1092 diploid human genomes. The solution is also fast. For example, the exact matching queries are handled in average time of 39\,$\mu$s and with up to 3 mismatches in 373\,$\mu$s on the test PC with the index size of 13.4\,GB. For a smaller index, occupying 7.4\,GB in memory, the respective times grow to 76\,$\mu$s and 917\,$\mu$s. Availability: Software and Suuplementary material: \url{http://sun.aei.polsl.pl/mugi}

Compressed Text Indexes:From Theory to Practice!

A compressed full-text self-index represents a text in a compressed form and still answers queries efficiently. This technology represents a breakthrough over the text indexing techniques of the previous decade, whose indexes required several times the size of the text. Although it is relatively new, this technology has matured up to a point where theoretical research is giving way to practical developments. Nonetheless this requires significant programming skills, a deep engineering effort, and a strong algorithmic background to dig into the research results. To date only isolated implementations and focused comparisons of compressed indexes have been reported, and they missed a common API, which prevented their re-use or deployment within other applications. The goal of this paper is to fill this gap. First, we present the existing implementations of compressed indexes from a practitioner's point of view. Second, we introduce the Pizza&Chili site, which offers tuned implementations and a standardized API for the most successful compressed full-text self-indexes, together with effective testbeds and scripts for their automatic validation and test. Third, we show the results of our extensive experiments on these codes with the aim of demonstrating the practical relevance of this novel and exciting technology

A new method for indexing genomes using on-disk suffix trees

We propose a new method to build persistent suffix trees for indexing the genomic data. Our algorithm DiGeST (Disk-Based Genomic Suffix Tree) improves significantly over previous work in reducing the random access to the in-put string and performing only two passes over disk data. DiGeST is based on the two-phase multi-way merge sort paradigm using a concise binary representation of the DNA alphabet. Furthermore, our method scales to larger genomic data than managed before

More Haste, Less Waste: Lowering the Redundancy in Fully Indexable Dictionaries

We consider the problem of representing, in a compressed format, a bit-vector $S$ of $m$ bits with $n$ 1s, supporting the following operations, where $b \in \{0, 1 \}$: $rank_b(S,i)$ returns the number of occurrences of bit $b$ in the prefix $S[1..i]$; $select_b(S,i)$ returns the position of the $i$th occurrence of bit $b$ in $S$. Such a data structure is called \emph{fully indexable dictionary (FID)} [Raman et al.,2007], and is at least as powerful as predecessor data structures. Our focus is on space-efficient FIDs on the \textsc{ram} model with word size $\Theta(\lg m)$ and constant time for all operations, so that the time cost is independent of the input size. Given the bitstring $S$ to be encoded, having length $m$ and containing $n$ ones, the minimal amount of information that needs to be stored is $B(n,m) = \lceil \log {{m}\choose{n}} \rceil$. The state of the art in building a FID for $S$ is given in [Patrascu,2008] using $B(m,n)+O(m / ((\log m/ t) ^t)) + O(m^{3/4})$ bits, to support the operations in $O(t)$ time. Here, we propose a parametric data structure exhibiting a time/space trade-off such that, for any real constants $0 0$, it uses B(n,m) + O(n^{1+\delta} + n (\frac{m}{n^s})^\eps) bits and performs all the operations in time O(s\delta^{-1} + \eps^{-1}). The improvement is twofold: our redundancy can be lowered parametrically and, fixing $s = O(1)$, we get a constant-time FID whose space is B(n,m) + O(m^\eps/\poly{n}) bits, for sufficiently large $m$. This is a significant improvement compared to the previous bounds for the general case

Dynamic Data Structures for Document Collections and Graphs

In the dynamic indexing problem, we must maintain a changing collection of text documents so that we can efficiently support insertions, deletions, and pattern matching queries. We are especially interested in developing efficient data structures that store and query the documents in compressed form. All previous compressed solutions to this problem rely on answering rank and select queries on a dynamic sequence of symbols. Because of the lower bound in [Fredman and Saks, 1989], answering rank queries presents a bottleneck in compressed dynamic indexing. In this paper we show how this lower bound can be circumvented using our new framework. We demonstrate that the gap between static and dynamic variants of the indexing problem can be almost closed. Our method is based on a novel framework for adding dynamism to static compressed data structures. Our framework also applies more generally to dynamizing other problems. We show, for example, how our framework can be applied to develop compressed representations of dynamic graphs and binary relations

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