8,719 research outputs found
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
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
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}
De Novo Assembly of Nucleotide Sequences in a Compressed Feature Space
Sequencing technologies allow for an in-depth analysis
of biological species but the size of the generated datasets
introduce a number of analytical challenges. Recently, we
demonstrated the application of numerical sequence representations
and data transformations for the alignment of short
reads to a reference genome. Here, we expand out approach
for de novo assembly of short reads. Our results demonstrate
that highly compressed data can encapsulate the signal suffi-
ciently to accurately assemble reads to big contigs or complete
genomes
The Parallelism Motifs of Genomic Data Analysis
Genomic data sets are growing dramatically as the cost of sequencing
continues to decline and small sequencing devices become available. Enormous
community databases store and share this data with the research community, but
some of these genomic data analysis problems require large scale computational
platforms to meet both the memory and computational requirements. These
applications differ from scientific simulations that dominate the workload on
high end parallel systems today and place different requirements on programming
support, software libraries, and parallel architectural design. For example,
they involve irregular communication patterns such as asynchronous updates to
shared data structures. We consider several problems in high performance
genomics analysis, including alignment, profiling, clustering, and assembly for
both single genomes and metagenomes. We identify some of the common
computational patterns or motifs that help inform parallelization strategies
and compare our motifs to some of the established lists, arguing that at least
two key patterns, sorting and hashing, are missing
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
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