1,684 research outputs found
Sam2bam: High-Performance Framework for NGS Data Preprocessing Tools
This paper introduces a high-throughput software tool framework called {\it
sam2bam} that enables users to significantly speedup pre-processing for
next-generation sequencing data. The sam2bam is especially efficient on
single-node multi-core large-memory systems. It can reduce the runtime of data
pre-processing in marking duplicate reads on a single node system by 156-186x
compared with de facto standard tools. The sam2bam consists of parallel
software components that can fully utilize the multiple processors, available
memory, high-bandwidth of storage, and hardware compression accelerators if
available.
The sam2bam provides file format conversion between well-known genome file
formats, from SAM to BAM, as a basic feature. Additional features such as
analyzing, filtering, and converting the input data are provided by {\it
plug-in} tools, e.g., duplicate marking, which can be attached to sam2bam at
runtime.
We demonstrated that sam2bam could significantly reduce the runtime of NGS
data pre-processing from about two hours to about one minute for a whole-exome
data set on a 16-core single-node system using up to 130 GB of memory. The
sam2bam could reduce the runtime for whole-genome sequencing data from about 20
hours to about nine minutes on the same system using up to 711 GB of memory
Entropy-scaling search of massive biological data
Many datasets exhibit a well-defined structure that can be exploited to
design faster search tools, but it is not always clear when such acceleration
is possible. Here, we introduce a framework for similarity search based on
characterizing a dataset's entropy and fractal dimension. We prove that
searching scales in time with metric entropy (number of covering hyperspheres),
if the fractal dimension of the dataset is low, and scales in space with the
sum of metric entropy and information-theoretic entropy (randomness of the
data). Using these ideas, we present accelerated versions of standard tools,
with no loss in specificity and little loss in sensitivity, for use in three
domains---high-throughput drug screening (Ammolite, 150x speedup), metagenomics
(MICA, 3.5x speedup of DIAMOND [3,700x BLASTX]), and protein structure search
(esFragBag, 10x speedup of FragBag). Our framework can be used to achieve
"compressive omics," and the general theory can be readily applied to data
science problems outside of biology.Comment: Including supplement: 41 pages, 6 figures, 4 tables, 1 bo
Large-scale compression of genomic sequence databases with the Burrows-Wheeler transform
Motivation
The Burrows-Wheeler transform (BWT) is the foundation of many algorithms for
compression and indexing of text data, but the cost of computing the BWT of
very large string collections has prevented these techniques from being widely
applied to the large sets of sequences often encountered as the outcome of DNA
sequencing experiments. In previous work, we presented a novel algorithm that
allows the BWT of human genome scale data to be computed on very moderate
hardware, thus enabling us to investigate the BWT as a tool for the compression
of such datasets.
Results
We first used simulated reads to explore the relationship between the level
of compression and the error rate, the length of the reads and the level of
sampling of the underlying genome and compare choices of second-stage
compression algorithm.
We demonstrate that compression may be greatly improved by a particular
reordering of the sequences in the collection and give a novel `implicit
sorting' strategy that enables these benefits to be realised without the
overhead of sorting the reads. With these techniques, a 45x coverage of real
human genome sequence data compresses losslessly to under 0.5 bits per base,
allowing the 135.3Gbp of sequence to fit into only 8.2Gbytes of space (trimming
a small proportion of low-quality bases from the reads improves the compression
still further).
This is more than 4 times smaller than the size achieved by a standard
BWT-based compressor (bzip2) on the untrimmed reads, but an important further
advantage of our approach is that it facilitates the building of compressed
full text indexes such as the FM-index on large-scale DNA sequence collections.Comment: Version here is as submitted to Bioinformatics and is same as the
previously archived version. This submission registers the fact that the
advanced access version is now available at
http://bioinformatics.oxfordjournals.org/content/early/2012/05/02/bioinformatics.bts173.abstract
. Bioinformatics should be considered as the original place of publication of
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Indexing arbitrary-length -mers in sequencing reads
We propose a lightweight data structure for indexing and querying collections
of NGS reads data in main memory. The data structure supports the interface
proposed in the pioneering work by Philippe et al. for counting and locating
-mers in sequencing reads. Our solution, PgSA (pseudogenome suffix array),
based on finding overlapping reads, is competitive to the existing algorithms
in the space use, query times, or both. The main applications of our index
include variant calling, error correction and analysis of reads from RNA-seq
experiments
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