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

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

Edit Distance: Sketching, Streaming and Document Exchange

We show that in the document exchange problem, where Alice holds $x \in \{0,1\}^n$ and Bob holds $y \in \{0,1\}^n$, Alice can send Bob a message of size $O(K(\log^2 K+\log n))$ bits such that Bob can recover $x$ using the message and his input $y$ if the edit distance between $x$ and $y$ is no more than $K$, and output "error" otherwise. Both the encoding and decoding can be done in time $\tilde{O}(n+\mathsf{poly}(K))$. This result significantly improves the previous communication bounds under polynomial encoding/decoding time. We also show that in the referee model, where Alice and Bob hold $x$ and $y$ respectively, they can compute sketches of $x$ and $y$ of sizes $\mathsf{poly}(K \log n)$ bits (the encoding), and send to the referee, who can then compute the edit distance between $x$ and $y$ together with all the edit operations if the edit distance is no more than $K$, and output "error" otherwise (the decoding). To the best of our knowledge, this is the first result for sketching edit distance using $\mathsf{poly}(K \log n)$ bits. Moreover, the encoding phase of our sketching algorithm can be performed by scanning the input string in one pass. Thus our sketching algorithm also implies the first streaming algorithm for computing edit distance and all the edits exactly using $\mathsf{poly}(K \log n)$ bits of space.Comment: Full version of an article to be presented at the 57th Annual IEEE Symposium on Foundations of Computer Science (FOCS 2016

An Introduction to Programming for Bioscientists: A Python-based Primer

Computing has revolutionized the biological sciences over the past several decades, such that virtually all contemporary research in the biosciences utilizes computer programs. The computational advances have come on many fronts, spurred by fundamental developments in hardware, software, and algorithms. These advances have influenced, and even engendered, a phenomenal array of bioscience fields, including molecular evolution and bioinformatics; genome-, proteome-, transcriptome- and metabolome-wide experimental studies; structural genomics; and atomistic simulations of cellular-scale molecular assemblies as large as ribosomes and intact viruses. In short, much of post-genomic biology is increasingly becoming a form of computational biology. The ability to design and write computer programs is among the most indispensable skills that a modern researcher can cultivate. Python has become a popular programming language in the biosciences, largely because (i) its straightforward semantics and clean syntax make it a readily accessible first language; (ii) it is expressive and well-suited to object-oriented programming, as well as other modern paradigms; and (iii) the many available libraries and third-party toolkits extend the functionality of the core language into virtually every biological domain (sequence and structure analyses, phylogenomics, workflow management systems, etc.). This primer offers a basic introduction to coding, via Python, and it includes concrete examples and exercises to illustrate the language's usage and capabilities; the main text culminates with a final project in structural bioinformatics. A suite of Supplemental Chapters is also provided. Starting with basic concepts, such as that of a 'variable', the Chapters methodically advance the reader to the point of writing a graphical user interface to compute the Hamming distance between two DNA sequences.Comment: 65 pages total, including 45 pages text, 3 figures, 4 tables, numerous exercises, and 19 pages of Supporting Information; currently in press at PLOS Computational Biolog

Towards information profiling: data lake content metadata management

There is currently a burst of Big Data (BD) processed and stored in huge raw data repositories, commonly called Data Lakes (DL). These BD require new techniques of data integration and schema alignment in order to make the data usable by its consumers and to discover the relationships linking their content. This can be provided by metadata services which discover and describe their content. However, there is currently a lack of a systematic approach for such kind of metadata discovery and management. Thus, we propose a framework for the profiling of informational content stored in the DL, which we call information profiling. The profiles are stored as metadata to support data analysis. We formally define a metadata management process which identifies the key activities required to effectively handle this.We demonstrate the alternative techniques and performance of our process using a prototype implementation handling a real-life case-study from the OpenML DL, which showcases the value and feasibility of our approach.Peer ReviewedPostprint (author's final draft

GPU-Accelerated BWT Construction for Large Collection of Short Reads

Advances in DNA sequencing technology have stimulated the development of algorithms and tools for processing very large collections of short strings (reads). Short-read alignment and assembly are among the most well-studied problems. Many state-of-the-art aligners, at their core, have used the Burrows-Wheeler transform (BWT) as a main-memory index of a reference genome (typical example, NCBI human genome). Recently, BWT has also found its use in string-graph assembly, for indexing the reads (i.e., raw data from DNA sequencers). In a typical data set, the volume of reads is tens of times of the sequenced genome and can be up to 100 Gigabases. Note that a reference genome is relatively stable and computing the index is not a frequent task. For reads, the index has to computed from scratch for each given input. The ability of efficient BWT construction becomes a much bigger concern than before. In this paper, we present a practical method called CX1 for constructing the BWT of very large string collections. CX1 is the first tool that can take advantage of the parallelism given by a graphics processing unit (GPU, a relative cheap device providing a thousand or more primitive cores), as well as simultaneously the parallelism from a multi-core CPU and more interestingly, from a cluster of GPU-enabled nodes. Using CX1, the BWT of a short-read collection of up to 100 Gigabases can be constructed in less than 2 hours using a machine equipped with a quad-core CPU and a GPU, or in about 43 minutes using a cluster with 4 such machines (the speedup is almost linear after excluding the first 16 minutes for loading the reads from the hard disk). The previously fastest tool BRC is measured to take 12 hours to process 100 Gigabases on one machine; it is non-trivial how BRC can be parallelized to take advantage a cluster of machines, let alone GPUs.Comment: 11 page