8,675 research outputs found
Sequence alignment, mutual information, and dissimilarity measures for constructing phylogenies
Existing sequence alignment algorithms use heuristic scoring schemes which
cannot be used as objective distance metrics. Therefore one relies on measures
like the p- or log-det distances, or makes explicit, and often simplistic,
assumptions about sequence evolution. Information theory provides an
alternative, in the form of mutual information (MI) which is, in principle, an
objective and model independent similarity measure. MI can be estimated by
concatenating and zipping sequences, yielding thereby the "normalized
compression distance". So far this has produced promising results, but with
uncontrolled errors. We describe a simple approach to get robust estimates of
MI from global pairwise alignments. Using standard alignment algorithms, this
gives for animal mitochondrial DNA estimates that are strikingly close to
estimates obtained from the alignment free methods mentioned above. Our main
result uses algorithmic (Kolmogorov) information theory, but we show that
similar results can also be obtained from Shannon theory. Due to the fact that
it is not additive, normalized compression distance is not an optimal metric
for phylogenetics, but we propose a simple modification that overcomes the
issue of additivity. We test several versions of our MI based distance measures
on a large number of randomly chosen quartets and demonstrate that they all
perform better than traditional measures like the Kimura or log-det (resp.
paralinear) distances. Even a simplified version based on single letter Shannon
entropies, which can be easily incorporated in existing software packages, gave
superior results throughout the entire animal kingdom. But we see the main
virtue of our approach in a more general way. For example, it can also help to
judge the relative merits of different alignment algorithms, by estimating the
significance of specific alignments.Comment: 19 pages + 16 pages of supplementary materia
Universal Indexes for Highly Repetitive Document Collections
Indexing highly repetitive collections has become a relevant problem with the
emergence of large repositories of versioned documents, among other
applications. These collections may reach huge sizes, but are formed mostly of
documents that are near-copies of others. Traditional techniques for indexing
these collections fail to properly exploit their regularities in order to
reduce space.
We introduce new techniques for compressing inverted indexes that exploit
this near-copy regularity. They are based on run-length, Lempel-Ziv, or grammar
compression of the differential inverted lists, instead of the usual practice
of gap-encoding them. We show that, in this highly repetitive setting, our
compression methods significantly reduce the space obtained with classical
techniques, at the price of moderate slowdowns. Moreover, our best methods are
universal, that is, they do not need to know the versioning structure of the
collection, nor that a clear versioning structure even exists.
We also introduce compressed self-indexes in the comparison. These are
designed for general strings (not only natural language texts) and represent
the text collection plus the index structure (not an inverted index) in
integrated form. We show that these techniques can compress much further, using
a small fraction of the space required by our new inverted indexes. Yet, they
are orders of magnitude slower.Comment: This research has received funding from the European Union's Horizon
2020 research and innovation programme under the Marie Sk{\l}odowska-Curie
Actions H2020-MSCA-RISE-2015 BIRDS GA No. 69094
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
Training-free Measures Based on Algorithmic Probability Identify High Nucleosome Occupancy in DNA Sequences
We introduce and study a set of training-free methods of
information-theoretic and algorithmic complexity nature applied to DNA
sequences to identify their potential capabilities to determine nucleosomal
binding sites. We test our measures on well-studied genomic sequences of
different sizes drawn from different sources. The measures reveal the known in
vivo versus in vitro predictive discrepancies and uncover their potential to
pinpoint (high) nucleosome occupancy. We explore different possible signals
within and beyond the nucleosome length and find that complexity indices are
informative of nucleosome occupancy. We compare against the gold standard
(Kaplan model) and find similar and complementary results with the main
difference that our sequence complexity approach. For example, for high
occupancy, complexity-based scores outperform the Kaplan model for predicting
binding representing a significant advancement in predicting the highest
nucleosome occupancy following a training-free approach.Comment: 8 pages main text (4 figures), 12 total with Supplementary (1 figure
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
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\,s and with up to 3 mismatches in 373\,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\,s and 917\,s.
Availability: Software and Suuplementary material:
\url{http://sun.aei.polsl.pl/mugi}
Practical Evaluation of Lempel-Ziv-78 and Lempel-Ziv-Welch Tries
We present the first thorough practical study of the Lempel-Ziv-78 and the
Lempel-Ziv-Welch computation based on trie data structures. With a careful
selection of trie representations we can beat well-tuned popular trie data
structures like Judy, m-Bonsai or Cedar
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