NETTAB 2012 on “Integrated Bio-Search”

The NETTAB 2012 workshop, held in Como on November 14-16, 2012, was devoted to "Integrated Bio-Search", that is to technologies, methods, architectures, systems and applications for searching, retrieving, integrating and analyzing data, information, and knowledge with the aim of answering complex bio-medical-molecular questions, i.e. some of the most challenging issues in bioinformatics today. It brought together about 80 researchers working in the field of Bioinformatics, Computational Biology, Biology, Computer Science and Engineering. More than 50 scientific contributions, including keynote and tutorial talks, oral communications, posters and software demonstrations, were presented at the workshop. This preface provides a brief overview of the workshop and shortly introduces the peer-reviewed manuscripts that were accepted for publication in this Supplement

G-CNV: A GPU-based tool for preparing data to detect CNVs with read-depth methods

Copy number variations (CNVs) are the most prevalent types of structural variations (SVs) in the human genome and are involved in a wide range of common human diseases. Different computational methods have been devised to detect this type of SVs and to study how they are implicated in human diseases. Recently, computational methods based on high-throughput sequencing (HTS) are increasingly used. The majority of these methods focus on mapping short-read sequences generated from a donor against a reference genome to detect signatures distinctive of CNVs. In particular, read-depth based methods detect CNVs by analyzing genomic regions with significantly different read-depth from the other ones. The pipeline analysis of these methods consists of four main stages: (i) data preparation, (ii) data normalization, (iii) CNV regions identification, and (iv) copy number estimation. However, available tools do not support most of the operations required at the first two stages of this pipeline. Typically, they start the analysis by building the read-depth signal from pre-processed alignments. Therefore, third-party tools must be used to perform most of the preliminary operations required to build the read-depth signal. These data-intensive operations can be efficiently parallelized on graphics processing units (GPUs). In this article, we present G-CNV, a GPU-based tool devised to perform the common operations required at the first two stages of the analysis pipeline. G-CNV is able to filter low-quality read sequences, to mask low-quality nucleotides, to remove adapter sequences, to remove duplicated read sequences, to map the short-reads, to resolve multiple mapping ambiguities, to build the read-depth signal, and to normalize it. G-CNV can be efficiently used as a third-party tool able to prepare data for the subsequent read-depth signal generation and analysis. Moreover, it can also be integrated in CNV detection tools to generate read-depth signals

A tool for mapping Single Nucleotide Polymorphisms using Graphics Processing Units

Background Single Nucleotide Polymorphism (SNP) genotyping analysis is very susceptible to SNPs chromosomal position errors. As it is known, SNPs mapping data are provided along the SNP arrays without any necessary information to assess in advance their accuracy. Moreover, these mapping data are related to a given build of a genome and need to be updated when a new build is available. As a consequence, researchers often plan to remap SNPs with the aim to obtain more up-to-date SNPs chromosomal positions. In this work, we present G-SNPM a GPU (Graphics Processing Unit) based tool to map SNPs on a genome. Methods G-SNPM is a tool that maps a short sequence representative of a SNP against a reference DNA sequence in order to find the physical position of the SNP in that sequence. In G-SNPM each SNP is mapped on its related chromosome by means of an automatic three-stage pipeline. In the first stage, G-SNPM uses the GPU-based short-read mapping tool SOAP3-dp to parallel align on a reference chromosome its related sequences representative of a SNP. In the second stage G-SNPM uses another short-read mapping tool to remap the sequences unaligned or ambiguously aligned by SOAP3-dp (in this stage SHRiMP2 is used, which exploits specialized vector computing hardware to speed-up the dynamic programming algorithm of Smith-Waterman). In the last stage, G-SNPM analyzes the alignments obtained by SOAP3-dp and SHRiMP2 to identify the absolute position of each SNP. Results and conclusions To assess G-SNPM, we used it to remap the SNPs of some commercial chips. Experimental results shown that G-SNPM has been able to remap without ambiguity almost all SNPs. Based on modern GPUs, G-SNPM provides fast mappings without worsening the accuracy of the results. G-SNPM can be used to deal with specialized Genome Wide Association Studies (GWAS), as well as in annotation tasks that require to update the SNP mapping probes

Grid and high performance computing applied to bioinformatics

Recent advances in genome sequencing technologies and modern biological data analysis technologies used in bioinformatics have led to a fast and continuous increase in biological data. The difficulty of managing the huge amounts of data currently available to researchers and the need to have results within a reasonable time have led to the use of distributed and parallel computing infrastructures for their analysis. In this context Grid computing has been successfully used. Grid computing is based on a distributed system which interconnects several computers and/or clusters to access global-scale resources. This infrastructure is exible, highly scalable and can achieve high performances with data-compute-intensive algorithms. Recently, bioinformatics is exploring new approaches based on the use of hardware accelerators, such as the Graphics Processing Units (GPUs). Initially developed as graphics cards, GPUs have been recently introduced for scientific purposes by rea- son of their performance per watt and the better cost/performance ratio achieved in terms of throughput and response time compared to other high-performance com- puting solutions. Although developers must have an in-depth knowledge of GPU programming and hardware to be effective, GPU accelerators have produced a lot of impressive results. The use of high-performance computing infrastructures raises the question of finding a way to parallelize the algorithms while limiting data dependency issues in order to accelerate computations on a massively parallel hardware. In this context, the research activity in this dissertation focused on the assessment and testing of the impact of these innovative high-performance computing technolo- gies on computational biology. In order to achieve high levels of parallelism and, in the final analysis, obtain high performances, some of the bioinformatic algorithms applicable to genome data analysis were selected, analyzed and implemented. These algorithms have been highly parallelized and optimized, thus maximizing the GPU hardware resources. The overall results show that the proposed parallel algorithms are highly performant, thus justifying the use of such technology. However, a software infrastructure for work ow management has been devised to provide support in CPU and GPU computation on a distributed GPU-based in- frastructure. Moreover, this software infrastructure allows a further coarse-grained data-parallel parallelization on more GPUs. Results show that the proposed appli- cation speed-up increases with the increase in the number of GPUs

Grid and high performance computing applied to bioinformatics

Recent advances in genome sequencing technologies and modern biological data analysis technologies used in bioinformatics have led to a fast and continuous increase in biological data. The difficulty of managing the huge amounts of data currently available to researchers and the need to have results within a reasonable time have led to the use of distributed and parallel computing infrastructures for their analysis. In this context Grid computing has been successfully used. Grid computing is based on a distributed system which interconnects several computers and/or clusters to access global-scale resources. This infrastructure is exible, highly scalable and can achieve high performances with data-compute-intensive algorithms. Recently, bioinformatics is exploring new approaches based on the use of hardware accelerators, such as the Graphics Processing Units (GPUs). Initially developed as graphics cards, GPUs have been recently introduced for scientific purposes by rea- son of their performance per watt and the better cost/performance ratio achieved in terms of throughput and response time compared to other high-performance com- puting solutions. Although developers must have an in-depth knowledge of GPU programming and hardware to be effective, GPU accelerators have produced a lot of impressive results. The use of high-performance computing infrastructures raises the question of finding a way to parallelize the algorithms while limiting data dependency issues in order to accelerate computations on a massively parallel hardware. In this context, the research activity in this dissertation focused on the assessment and testing of the impact of these innovative high-performance computing technolo- gies on computational biology. In order to achieve high levels of parallelism and, in the final analysis, obtain high performances, some of the bioinformatic algorithms applicable to genome data analysis were selected, analyzed and implemented. These algorithms have been highly parallelized and optimized, thus maximizing the GPU hardware resources. The overall results show that the proposed parallel algorithms are highly performant, thus justifying the use of such technology. However, a software infrastructure for work ow management has been devised to provide support in CPU and GPU computation on a distributed GPU-based in- frastructure. Moreover, this software infrastructure allows a further coarse-grained data-parallel parallelization on more GPUs. Results show that the proposed appli- cation speed-up increases with the increase in the number of GPUs