26 research outputs found
GReEn: a tool for efficient compression of genome resequencing data
Research in the genomic sciences is confronted with the volume of sequencing and resequencing data increasing at a higher pace than that of data storage and communication resources, shifting a significant part of research budgets from the sequencing component of a project to the computational one. Hence, being able to efficiently store sequencing and resequencing data is a problem of paramount importance. In this article, we describe GReEn (Genome Resequencing Encoding), a tool for compressing genome resequencing data using a reference genome sequence. It overcomes some drawbacks of the recently proposed tool GRS, namely, the possibility of compressing sequences that cannot be handled by GRS, faster running times and compression gains of over 100-fold for some sequences. This tool is freely available for non-commercial use at ftp://ftp.ieeta.pt/∼ap/codecs/GReEn1.tar.gz
Reference Based Genome Compression
DNA sequencing technology has advanced to a point where storage is becoming
the central bottleneck in the acquisition and mining of more data. Large
amounts of data are vital for genomics research, and generic compression tools,
while viable, cannot offer the same savings as approaches tuned to inherent
biological properties. We propose an algorithm to compress a target genome
given a known reference genome. The proposed algorithm first generates a
mapping from the reference to the target genome, and then compresses this
mapping with an entropy coder. As an illustration of the performance: applying
our algorithm to James Watson's genome with hg18 as a reference, we are able to
reduce the 2991 megabyte (MB) genome down to 6.99 MB, while Gzip compresses it
to 834.8 MB.Comment: 5 pages; Submitted to the IEEE Information Theory Workshop (ITW) 201
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}
Dynamic Relative Compression, Dynamic Partial Sums, and Substring Concatenation
Given a static reference string and a source string , a relative
compression of with respect to is an encoding of as a sequence of
references to substrings of . Relative compression schemes are a classic
model of compression and have recently proved very successful for compressing
highly-repetitive massive data sets such as genomes and web-data. We initiate
the study of relative compression in a dynamic setting where the compressed
source string is subject to edit operations. The goal is to maintain the
compressed representation compactly, while supporting edits and allowing
efficient random access to the (uncompressed) source string. We present new
data structures that achieve optimal time for updates and queries while using
space linear in the size of the optimal relative compression, for nearly all
combinations of parameters. We also present solutions for restricted and
extended sets of updates. To achieve these results, we revisit the dynamic
partial sums problem and the substring concatenation problem. We present new
optimal or near optimal bounds for these problems. Plugging in our new results
we also immediately obtain new bounds for the string indexing for patterns with
wildcards problem and the dynamic text and static pattern matching problem
Allowing mutations in maximal matches boosts genome compression performance.
Motivation
A maximal match between two genomes is a contiguous non-extendable sub-sequence common in the two genomes. DNA bases mutate very often from the genome of one individual to another. When a mutation occurs in a maximal match, it breaks the maximal match into shorter match segments. The coding cost using these broken segments for reference-based genome compression is much higher than that of using the maximal match which is allowed to contain mutations.
Results
We present memRGC, a novel reference-based genome compression algorithm that leverages mutation-containing matches (MCMs) for genome encoding. MemRGC detects maximal matches between two genomes using a coprime double-window k-mer sampling search scheme, the method then extends these matches to cover mismatches (mutations) and their neighbouring maximal matches to form long and MCMs. Experiments reveal that memRGC boosts the compression performance by an average of 27% in reference-based genome compression. MemRGC is also better than the best state-of-the-art methods on all of the benchmark datasets, sometimes better by 50%. Moreover, memRGC uses much less memory and de-compression resources, while providing comparable compression speed. These advantages are of significant benefits to genome data storage and transmission