Motivation: The enormous amount of short reads generated by the new DNA sequencing technologies call for the development of fast and accurate read alignment programs. A first generation of hash table-based methods has been developed, including MAQ, which is accurate, feature rich and fast enough to align short reads from a single individual. However, MAQ does not support gapped alignment for single-end reads, which makes it unsuitable for alignment of longer reads where indels may occur frequently. The speed of MAQ is also a concern when the alignment is scaled up to the resequencing of hundreds of individuals.

Results: We implemented Burrows-Wheeler Alignment tool (BWA), a new read alignment package that is based on backward search with Burrows–Wheeler Transform (BWT), to efficiently align short sequencing reads against a large reference sequence such as the human genome, allowing mismatches and gaps. BWA supports both base space reads, e.g. from Illumina sequencing machines, and color space reads from AB SOLiD machines. Evaluations on both simulated and real data suggest that BWA is ~10–20× faster than MAQ, while achieving similar accuracy. In addition, BWA outputs alignment in the new standard SAM (Sequence Alignment/Map) format. Variant calling and other downstream analyses after the alignment can be achieved with the open source SAMtools software package.

Availability: http://maq.sourceforge.net 

Contact: [email protected]

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Fast and accurate short read alignment with Burrows–Wheeler transform

The increasing volume of data in modern business and science calls for more complex and sophisticated tools. Although advances in data mining technology have made extensive data collection much easier, it's still always evolving and there is a constant need for new techniques and tools that can help us transform this data into useful information and knowledge. Since the previous edition's publication, great advances have been made in the field of data mining. Not only does the third of edition of Data Mining: Concepts and Techniques continue the tradition of equipping you with an understanding and application of the theory and practice of discovering patterns hidden in large data sets, it also focuses on new, important topics in the field: data warehouses and data cube technology, mining stream, mining social networks, and mining spatial, multimedia and other complex data. Each chapter is a stand-alone guide to a critical topic, presenting proven algorithms and sound implementations ready to be used directly or with strategic modification against live data. This is the resource you need if you want to apply today's most powerful data mining techniques to meet real business challenges. * Presents dozens of algorithms and implementation examples, all in pseudo-code and suitable for use in real-world, large-scale data mining projects. * Addresses advanced topics such as mining object-relational databases, spatial databases, multimedia databases, time-series databases, text databases, the World Wide Web, and applications in several fields. *Provides a comprehensive, practical look at the concepts and techniques you need to get the most out of real business data

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Data Mining: Concepts and Techniques

Data Mining: Practical Machine Learning Tools and Techniques offers a thorough grounding in machine learning concepts as well as practical advice on applying machine learning tools and techniques in real-world data mining situations. This highly anticipated third edition of the most acclaimed work on data mining and machine learning will teach you everything you need to know about preparing inputs, interpreting outputs, evaluating results, and the algorithmic methods at the heart of successful data mining. Thorough updates reflect the technical changes and modernizations that have taken place in the field since the last edition, including new material on Data Transformations, Ensemble Learning, Massive Data Sets, Multi-instance Learning, plus a new version of the popular Weka machine learning software developed by the authors. Witten, Frank, and Hall include both tried-and-true techniques of today as well as methods at the leading edge of contemporary research. *Provides a thorough grounding in machine learning concepts as well as practical advice on applying the tools and techniques to your data mining projects *Offers concrete tips and techniques for performance improvement that work by transforming the input or output in machine learning methods *Includes downloadable Weka software toolkit, a collection of machine learning algorithms for data mining tasks-in an updated, interactive interface. Algorithms in toolkit cover: data pre-processing, classification, regression, clustering, association rules, visualization

Data Mining: Practical Machine Learning Tools and Techniques

More than twelve years have elapsed since the first public release of WEKA. In that time, the software has been rewritten entirely from scratch, evolved substantially and now accompanies a text on data mining [35]. These days, WEKA enjoys widespread acceptance in both academia and business, has an active community, and has been downloaded more than 1.4 million times since being placed on Source-Forge in April 2000. This paper provides an introduction to the WEKA workbench, reviews the history of the project, and, in light of the recent 3.6 stable release, briefly discusses what has been added since the last stable version (Weka 3.4) released in 2003.

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The WEKA data mining software: an update

Machine Learning is the study of methods for programming computers to learn. Computers are applied to a wide range of tasks, and for most of these it is relatively easy for programmers to design and implement the necessary software. However, there are many tasks for which this is difficult or impossible. These can be divided into four general categories. First, there are problems for which there exist no human experts. For example, in modern automated manufacturing facilities, there is a need to predict machine failures before they occur by analyzing sensor readings. Because the machines are new, there are no human experts who can be interviewed by a programmer to provide the knowledge necessary to build a computer system. A machine learning system can study recorded data and subsequent machine failures and learn prediction rules. Second, there are problems where human experts exist, but where they are unable to explain their expertise. This is the case in many perceptual tasks, such as speech recognition, hand-writing recognition, and natural language understanding. Virtually all humans exhibit expert-level abilities on these tasks, but none of them can describe the detailed steps that they follow as they perform them. Fortunately, humans can provide machines with examples of the inputs and correct outputs for these tasks, so machine learning algorithms can learn to map the inputs to the outputs. Third, there are problems where phenomena are changing rapidly. In finance, for example, people would like to predict the future behavior of the stock market, of consumer purchases, or of exchange rates. These behaviors change frequently, so that even if a programmer could construct a good predictive computer program, it would need to be rewritten frequently. A learning program can relieve the programmer of this burden by constantly modifying and tuning a set of learned prediction rules. Fourth, there are applications that need to be customized for each computer user separately. Consider, for example, a program to filter unwanted electronic mail messages. Different users will need different filters. It is unreasonable to expect each user to program his or her own rules, and it is infeasible to provide every user with a software engineer to keep the rules up-to-date. A machine learning system can learn which mail messages the user rejects and maintain the filtering rules automatically. Machine learning addresses many of the same research questions as the fields of statistics, data mining, and psychology, but with differences of emphasis. Statistics focuses on understanding the phenomena that have generated the data, often with the goal of testing different hypotheses about those phenomena. Data mining seeks to find patterns in the data that are understandable by people. Psychological studies of human learning aspire to understand the mechanisms underlying the various learning behaviors exhibited by people (concept learning, skill acquisition, strategy change, etc.).

Machine learning

We present a natural online perfect matching problem motivated by problems in mobile computing. A total of n customers connect and disconnect sequentially, and each customer has an associated set of stations to which it may connect. Each station has a capacity limit. We allow the network to preemptively switch a customer between allowed stations to make room for a new arrival. We wish to minimize the total number of switches required to provide service to every customer. Equivalently, we wish to maintain a perfect matching between customers and stations and minimize the lengths of the augmenting paths. We measure performance by the worst case ratio of the number of switches made to the minimum number required.

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Online Perfect Matching and Mobile Computing

Parallel disks promise to be a cost effective means for achieving high bandwidth in applications involving massive data sets, but algorithms for parallel disks can be difficult to devise. To combat this problem, we define a useful and natural duality between writing to parallel disks and the seemingly more difficult problem of prefetching. We first explore this duality for applications involving read-once accesses using parallel disks. We get a simple linear time algorithm for computing optimal prefetch schedules and analyze the efficiency of the resulting schedules for randomly placed data and for arbitrary interleaved accesses to striped sequences. Duality also provides an optimal schedule for prefetching plus caching, where blocks can be accessed multiple times. Another application of this duality gives us the first parallel disk sorting algorithms that are provably optimal up to lower-order terms. One of these algorithms is a simple and practical variant of multiway mergesort, addressing a question that had been open for some time.

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Duality Between Prefetching and Queued Writing with Parallel Disks

We introduce a new variant of the popular Burrows-Wheeler transform (BWT), called Geometric Burrows-Wheeler Transform (GBWT), which converts a text into a set of points in 2-dimensional geometry. We also introduce a reverse transform, called Points2Text, which converts a set of points into text. Using these two transforms, we show strong equivalence between data structural problems in geometric range searching and text pattern matching. This allows us to apply the lower bounds known in the field of orthogonal range searching to the problems in compressed text indexing. In addition, we give the first succinct (compact) index for I/O-efficient pattern matching in external memory, and show how this index can be further improved to achieve higher-order entropy compressed space.

Geometric BWT: Compressed Text Indexing via Sparse Suffixes and Range Searching

The planted $(l,d)$ motif discovery has been successfully used to locate transcription factor binding sites in dozens of promoter sequences over the past decade. However, there has not been enough work done in identifying $(l,d)$ motifs in the next-generation sequencing (ChIP-seq) data sets, which contain thousands of input sequences and thereby bring new challenge to make a good identification in reasonable time. To cater this need, we propose a new planted $(l,d)$ motif discovery algorithm named MCES, which identifies motifs by mining and combining emerging substrings. Specially, to handle larger data sets, we design a MapReduce-based strategy to mine emerging substrings distributedly. Experimental results on the simulated data show that i) MCES is able to identify $(l,d)$ motifs efficiently and effectively in thousands to millions of input sequences, and runs faster than the state-of-the-art $(l,d)$ motif discovery algorithms, such as F-motif and TraverStringsR; ii) MCES is able to identify motifs without known lengths, and has a better identification accuracy than the competing algorithm CisFinder. Also, the validity of MCES is tested on real data sets. MCES is freely available at http://sites.google.com/site/feqond/mces.

An Efficient Algorithm for Discovering Motifs in Large DNA Data Sets

Resist images are hardened so that they are flow resistant at elevated temperatures by coating the image with a layer of a porous metal or metal oxide.

Jeffrey Scott Vitter

Papers

Online Perfect Matching and Mobile Computing

Duality Between Prefetching and Queued Writing with Parallel Disks

Geometric BWT: Compressed Text Indexing via Sparse Suffixes and Range Searching

An Efficient Algorithm for Discovering Motifs in Large DNA Data Sets

Optimal Dynamic Interval Management in External Memory (extended abstract).