FASTA/Q data compressors for MapReduce-Hadoop genomics: space and time savings made easy

Background Storage of genomic data is a major cost for the Life Sciences, effectively addressed via specialized data compression methods. For the same reasons of abundance in data production, the use of Big Data technologies is seen as the future for genomic data storage and processing, with MapReduce-Hadoop as leaders. Somewhat surprisingly, none of the specialized FASTA/Q compressors is available within Hadoop. Indeed, their deployment there is not exactly immediate. Such a State of the Art is problematic. Results We provide major advances in two different directions. Methodologically, we propose two general methods, with the corresponding software, that make very easy to deploy a specialized FASTA/Q compressor within MapReduce-Hadoop for processing files stored on the distributed Hadoop File System, with very little knowledge of Hadoop. Practically, we provide evidence that the deployment of those specialized compressors within Hadoop, not available so far, results in better space savings, and even in better execution times over compressed data, with respect to the use of generic compressors available in Hadoop, in particular for FASTQ files. Finally, we observe that these results hold also for the Apache Spark framework, when used to process FASTA/Q files stored on the Hadoop File System. Conclusions Our Methods and the corresponding software substantially contribute to achieve space and time savings for the storage and processing of FASTA/Q files in Hadoop and Spark. Being our approach general, it is very likely that it can be applied also to FASTA/Q compression methods that will appear in the future

iNGS: a prototype tool for genome interpretation and annotation

Currently, clinical interpretation of whole-genome NGS genetic findings are very low-throughput because of a lack of computational tools/software. The current bottleneck of whole-genome and whole-exome sequencing projects is in structured data management and sophisticated computational analysis of experimental data. In this work, we have started designing a platform for integrating, in a first step, existing analysis tools and adding annotations from public databases to the findings of these tools. This platform can be used to produce tools for different kind of users. As a first experiment with this platform, we have developed a Web tools for running multiple analysis tasks, completing the findings with public data and producing a simple report similar to blood test reports.Universidad de Málaga. Campus de Excelencia Internacional Andalucía Tech. The Project Grant (TIN2011-25840) (Spanish Ministry of Education and Science) and P11-TIC-7529 (Innovation, Science and Enterprise Ministry of the regional government of the Junta de Andalucía)

The Role of Distributed Computing in Big Data Science: Case Studies in Forensics and Bioinformatics

2014 - 2015The era of Big Data is leading the generation of large amounts of data, which require storage and analysis capabilities that can be only ad- dressed by distributed computing systems. To facilitate large-scale distributed computing, many programming paradigms and frame- works have been proposed, such as MapReduce and Apache Hadoop, which transparently address some issues of distributed systems and hide most of their technical details. Hadoop is currently the most popular and mature framework sup- porting the MapReduce paradigm, and it is widely used to store and process Big Data using a cluster of computers. The solutions such as Hadoop are attractive, since they simplify the transformation of an application from non-parallel to the distributed one by means of general utilities and without many skills. However, without any algorithm engineering activity, some target applications are not alto- gether fast and e cient, and they can su er from several problems and drawbacks when are executed on a distributed system. In fact, a distributed implementation is a necessary but not su cient condition to obtain remarkable performance with respect to a non-parallel coun- terpart. Therefore, it is required to assess how distributed solutions are run on a Hadoop cluster, and/or how their performance can be improved to reduce resources consumption and completion times. In this dissertation, we will show how Hadoop-based implementations can be enhanced by using carefully algorithm engineering activity, tuning, pro ling and code improvements. It is also analyzed how to achieve these goals by working on some critical points, such as: data local computation, input split size, number and granularity of tasks, cluster con guration, input/output representation, etc. i In particular, to address these issues, we choose some case studies coming from two research areas where the amount of data is rapidly increasing, namely, Digital Image Forensics and Bioinformatics. We mainly describe full- edged implementations to show how to design, engineer, improve and evaluate Hadoop-based solutions for Source Camera Identi cation problem, i.e., recognizing the camera used for taking a given digital image, adopting the algorithm by Fridrich et al., and for two of the main problems in Bioinformatics, i.e., alignment- free sequence comparison and extraction of k-mer cumulative or local statistics. The results achieved by our improved implementations show that they are substantially faster than the non-parallel counterparts, and re- markably faster than the corresponding Hadoop-based naive imple- mentations. In some cases, for example, our solution for k-mer statis- tics is approximately 30× faster than our Hadoop-based naive im- plementation, and about 40× faster than an analogous tool build on Hadoop. In addition, our applications are also scalable, i.e., execution times are (approximately) halved by doubling the computing units. Indeed, algorithm engineering activities based on the implementation of smart improvements and supported by careful pro ling and tun- ing may lead to a much better experimental performance avoiding potential problems. We also highlight how the proposed solutions, tips, tricks and insights can be used in other research areas and problems. Although Hadoop simpli es some tasks of the distributed environ- ments, we must thoroughly know it to achieve remarkable perfor- mance. It is not enough to be an expert of the application domain to build Hadop-based implementations, indeed, in order to achieve good performance, an expert of distributed systems, algorithm engi- neering, tuning, pro ling, etc. is also required. Therefore, the best performance depend heavily on the cooperation degree between the domain expert and the distributed algorithm engineer. [edited by Author]XIV n.s

Extended collectives library for unified parallel C

[Abstract] Current multicore processors mitigate single-core processor problems (e.g., power, memory and instruction-level parallelism walls), but they have raised the programmability wall. In this scenario, the use of a suitable parallel programming model is key to facilitate a paradigm shift from sequential application development while maximizing the productivity of code developers. At this point, the PGAS (Partitioned Global Address Space) paradigm represents a relevant research advance for its application to multicore systems, as its memory model, with a shared memory view while providing private memory for taking advantage of data locality, mimics the memory structure provided by these architectures. Unified Parallel C (UPC), a PGAS-based extension of ANSI C, has been grabbing the attention of developers for the last years. Nevertheless, the focus on improving performance of current UPC compilers/ runtimes has been relegating the goal of providing higher programmability, where the available constructs have not always guaranteed good performance. Therefore, this Thesis focuses on making original contributions to the state of the art of UPC programmability by means of two main tasks: (1) presenting an analytical and empirical study of the features of the language, and (2) providing new functionalities that favor programmability, while not hampering performance. Thus, the main contribution of this Thesis is the development of a library of extended collective functions, which complements and improves the existing UPC standard library with programmable constructs based on efficient algorithms. A UPC MapReduce framework (UPC-MR) has also been implemented to support this highly scalable computing model for UPC applications. Finally, the analysis and development of relevant kernels and applications (e.g., a large parallel particle simulation based on Brownian dynamics) confirm the usability of these libraries, concluding that UPC can provide high performance and scalability, especially for environments with a large number of threads at a competitive development cost

Scalable Profiling and Visualization for Characterizing Microbiomes

Metagenomics is the study of the combined genetic material found in microbiome samples, and it serves as an instrument for studying microbial communities, their biodiversities, and the relationships to their host environments. Creating, interpreting, and understanding microbial community profiles produced from microbiome samples is a challenging task as it requires large computational resources along with innovative techniques to process and analyze datasets that can contain terabytes of information. The community profiles are critical because they provide information about what microorganisms are present in the sample, and in what proportions. This is particularly important as many human diseases and environmental disasters are linked to changes in microbiome compositions. In this work we propose novel approaches for the creation and interpretation of microbial community profiles. This includes: (a) a cloud-based, distributed computational system that generates detailed community profiles by processing large DNA sequencing datasets against large reference genome collections, (b) the creation of Microbiome Maps: interpretable, high-resolution visualizations of community profiles, and (c) a machine learning framework for characterizing microbiomes from the Microbiome Maps that delivers deep insights into microbial communities. The proposed approaches have been implemented in three software solutions: Flint, a large scale profiling framework for commercial cloud systems that can process millions of DNA sequencing fragments and produces microbial community profiles at a very low cost; Jasper, a novel method for creating Microbiome Maps, which visualizes the abundance profiles based on the Hilbert curve; and Amber, a machine learning framework for characterizing microbiomes using the Microbiome Maps generated by Jasper with high accuracy. Results show that Flint scales well for reference genome collections that are an order of magnitude larger than those used by competing tools, while using less than a minute to profile a million reads on the cloud with 65 commodity processors. Microbiome maps produced by Jasper are compact, scalable representations of extremely complex microbial community profiles with numerous demonstrable advantages, including the ability to display latent relationships that are hard to elicit. Finally, experiments show that by using images as input instead of unstructured tabular input, the carefully engineered software, Amber, can outperform other sophisticated machine learning tools available for classification of microbiomes

Low-latency, query-driven analytics over voluminous multidimensional, spatiotemporal datasets

2017 Summer.Includes bibliographical references.Ubiquitous data collection from sources such as remote sensing equipment, networked observational devices, location-based services, and sales tracking has led to the accumulation of voluminous datasets; IDC projects that by 2020 we will generate 40 zettabytes of data per year, while Gartner and ABI estimate 20-35 billion new devices will be connected to the Internet in the same time frame. The storage and processing requirements of these datasets far exceed the capabilities of modern computing hardware, which has led to the development of distributed storage frameworks that can scale out by assimilating more computing resources as necessary. While challenging in its own right, storing and managing voluminous datasets is only the precursor to a broader field of study: extracting knowledge, insights, and relationships from the underlying datasets. The basic building block of this knowledge discovery process is analytic queries, encompassing both query instrumentation and evaluation. This dissertation is centered around query-driven exploratory and predictive analytics over voluminous, multidimensional datasets. Both of these types of analysis represent a higher-level abstraction over classical query models; rather than indexing every discrete value for subsequent retrieval, our framework autonomously learns the relationships and interactions between dimensions in the dataset (including time series and geospatial aspects), and makes the information readily available to users. This functionality includes statistical synopses, correlation analysis, hypothesis testing, probabilistic structures, and predictive models that not only enable the discovery of nuanced relationships between dimensions, but also allow future events and trends to be predicted. This requires specialized data structures and partitioning algorithms, along with adaptive reductions in the search space and management of the inherent trade-off between timeliness and accuracy. The algorithms presented in this dissertation were evaluated empirically on real-world geospatial time-series datasets in a production environment, and are broadly applicable across other storage frameworks