Download or read book efficient statistical and computational methods for large scale sequencing data written by and published by . This book was released on with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book Frontiers in Massive Data Analysis written by National Research Council and published by National Academies Press. This book was released on 2013-09-03 with total page 191 pages. Available in PDF, EPUB and Kindle. Book excerpt: Data mining of massive data sets is transforming the way we think about crisis response, marketing, entertainment, cybersecurity and national intelligence. Collections of documents, images, videos, and networks are being thought of not merely as bit strings to be stored, indexed, and retrieved, but as potential sources of discovery and knowledge, requiring sophisticated analysis techniques that go far beyond classical indexing and keyword counting, aiming to find relational and semantic interpretations of the phenomena underlying the data. Frontiers in Massive Data Analysis examines the frontier of analyzing massive amounts of data, whether in a static database or streaming through a system. Data at that scale-terabytes and petabytes-is increasingly common in science (e.g., particle physics, remote sensing, genomics), Internet commerce, business analytics, national security, communications, and elsewhere. The tools that work to infer knowledge from data at smaller scales do not necessarily work, or work well, at such massive scale. New tools, skills, and approaches are necessary, and this report identifies many of them, plus promising research directions to explore. Frontiers in Massive Data Analysis discusses pitfalls in trying to infer knowledge from massive data, and it characterizes seven major classes of computation that are common in the analysis of massive data. Overall, this report illustrates the cross-disciplinary knowledge-from computer science, statistics, machine learning, and application disciplines-that must be brought to bear to make useful inferences from massive data.

Download or read book Efficient Large Scale Machine Learning Algorithms for Genomic Sequences written by Daniel Quang and published by . This book was released on 2017 with total page 114 pages. Available in PDF, EPUB and Kindle. Book excerpt: High-throughput sequencing (HTS) has led to many breakthroughs in basic and translational biology research. With this technology, researchers can interrogate whole genomes at single-nucleotide resolution. The large volume of data generated by HTS experiments necessitates the development of novel algorithms that can efficiently process these data. At the advent of HTS, several rudimentary methods were proposed. Often, these methods applied compromising strategies such as discarding a majority of the data or reducing the complexity of the models. This thesis focuses on the development of machine learning methods for efficiently capturing complex patterns from high volumes of HTS data.First, we focus on on de novo motif discovery, a popular sequence analysis method that predates HTS. Given multiple input sequences, the goal of motif discovery is to identify one or more candidate motifs, which are biopolymer sequence patterns that are conjectured to have biological significance. In the context of transcription factor (TF) binding, motifs may represent the sequence binding preference of proteins. Traditional motif discovery algorithms do not scale well with the number of input sequences, which can make motif discovery intractable for the volume of data generated by HTS experiments. One common solution is to only perform motif discovery on a small fraction of the sequences. Scalable algorithms that simplify the motif models are popular alternatives. Our approach is a stochastic method that is scalable and retains the modeling power of past methods.Second, we leverage deep learning methods to annotate the pathogenicity of genetic variants. Deep learning is a class of machine learning algorithms concerned with deep neural networks (DNNs). DNNs use a cascade of layers of nonlinear processing units for feature extraction and transformation. Each layer uses the output from the previous layer as its input. Similar to our novel motif discovery algorithm, artificial neural networks can be efficiently trained in a stochastic manner. Using a large labeled dataset comprised of tens of millions of pathogenic and benign genetic variants, we trained a deep neural network to discriminate between the two categories. Previous methods either focused only on variants lying in protein coding regions, which cover less than 2% of the human genome, or applied simpler models such as linear support vector machines, which can not usually capture non-linear patterns like deep neural networks can.Finally, we discuss convolutional (CNN) and recurrent (RNN) neural networks, variations of DNNs that are especially well-suited for studying sequential data. Specifically, we stacked a bidirectional recurrent layer on top of a convolutional layer to form a hybrid model. The model accepts raw DNA sequences as inputs and predicts chromatin markers, including histone modifications, open chromatin, and transcription factor binding. In this specific application, the convolutional kernels are analogous to motifs, hence the model learning is essentially also performing motif discovery. Compared to a pure convolutional model, the hybrid model requires fewer free parameters to achieve superior performance. We conjecture that the recurrent layer allows our model spatial and orientation dependencies among motifs better than a pure convolutional model can. With some modifications to this framework, the model can accept cell type-specific features, such as gene expression and open chromatin DNase I cleavage, to accurately predict transcription factor binding across cell types. We submitted our model to the ENCODE-DREAM in vivo Transcription Factor Binding Site Prediction Challenge, where it was among the top performing models. We implemented several novel heuristics, which significantly reduced the training time and the computational overhead. These heuristics were instrumental to meet the Challenge deadlines and to make the method more accessible for the research community.HTS has already transformed the landscape of basic and translational research, proving itself as a mainstay of modern biological research. As more data are generated and new assays are developed, there will be an increasing need for computational methods to integrate the data to yield new biological insights. We have only begun to scratch the surface of discovering what is possible from both an experimental and a computational perspective. Thus, further development of versatile and efficient statistical models is crucial to maintaining the momentum for new biological discoveries.

Download or read book Computational Methods for Next Generation Sequencing Data Analysis written by Ion Mandoiu and published by John Wiley & Sons. This book was released on 2016-09-12 with total page 464 pages. Available in PDF, EPUB and Kindle. Book excerpt: Introduces readers to core algorithmic techniques for next-generation sequencing (NGS) data analysis and discusses a wide range of computational techniques and applications This book provides an in-depth survey of some of the recent developments in NGS and discusses mathematical and computational challenges in various application areas of NGS technologies. The 18 chapters featured in this book have been authored by bioinformatics experts and represent the latest work in leading labs actively contributing to the fast-growing field of NGS. The book is divided into four parts: Part I focuses on computing and experimental infrastructure for NGS analysis, including chapters on cloud computing, modular pipelines for metabolic pathway reconstruction, pooling strategies for massive viral sequencing, and high-fidelity sequencing protocols. Part II concentrates on analysis of DNA sequencing data, covering the classic scaffolding problem, detection of genomic variants, including insertions and deletions, and analysis of DNA methylation sequencing data. Part III is devoted to analysis of RNA-seq data. This part discusses algorithms and compares software tools for transcriptome assembly along with methods for detection of alternative splicing and tools for transcriptome quantification and differential expression analysis. Part IV explores computational tools for NGS applications in microbiomics, including a discussion on error correction of NGS reads from viral populations, methods for viral quasispecies reconstruction, and a survey of state-of-the-art methods and future trends in microbiome analysis. Computational Methods for Next Generation Sequencing Data Analysis: Reviews computational techniques such as new combinatorial optimization methods, data structures, high performance computing, machine learning, and inference algorithms Discusses the mathematical and computational challenges in NGS technologies Covers NGS error correction, de novo genome transcriptome assembly, variant detection from NGS reads, and more This text is a reference for biomedical professionals interested in expanding their knowledge of computational techniques for NGS data analysis. The book is also useful for graduate and post-graduate students in bioinformatics.

Download or read book Computational Systems Bioinformatics written by Peter Markstein and published by World Scientific. This book was released on 2008 with total page 355 pages. Available in PDF, EPUB and Kindle. Book excerpt: This proceedings volume contains 29 papers covering many of the latest developments in the fast-growing field of bioinformatics. The contributions span a wide range of topics, including computational genomics and genetics, protein function and computational proteomics, the transcriptome, structural bioinformatics, microarray data analysis, motif identification, biological pathways and systems, and biomedical applications. The papers not only cover theoretical aspects of bioinformatics but also delve into the application of new methods, with input from computation, engineering and biology disciplines. This multidisciplinary approach to bioinformatics gives these proceedings a unique viewpoint of the field.

Download or read book Computational Systems Bioinformatics Volume 7 Proceedings Of The Csb 2008 Conference written by Peter Markstein and published by World Scientific. This book was released on 2008-08-01 with total page 355 pages. Available in PDF, EPUB and Kindle. Book excerpt: This proceedings volume contains 29 papers covering many of the latest developments in the fast-growing field of bioinformatics. The contributions span a wide range of topics, including computational genomics and genetics, protein function and computational proteomics, the transcriptome, structural bioinformatics, microarray data analysis, motif identification, biological pathways and systems, and biomedical applications.The papers not only cover theoretical aspects of bioinformatics but also delve into the application of new methods, with input from computation, engineering and biology disciplines. This multidisciplinary approach to bioinformatics gives these proceedings a unique viewpoint of the field./a

Download or read book Primer to Analysis of Genomic Data Using R written by Cedric Gondro and published by Springer. This book was released on 2015-05-18 with total page 283 pages. Available in PDF, EPUB and Kindle. Book excerpt: Through this book, researchers and students will learn to use R for analysis of large-scale genomic data and how to create routines to automate analytical steps. The philosophy behind the book is to start with real world raw datasets and perform all the analytical steps needed to reach final results. Though theory plays an important role, this is a practical book for graduate and undergraduate courses in bioinformatics and genomic analysis or for use in lab sessions. How to handle and manage high-throughput genomic data, create automated workflows and speed up analyses in R is also taught. A wide range of R packages useful for working with genomic data are illustrated with practical examples. The key topics covered are association studies, genomic prediction, estimation of population genetic parameters and diversity, gene expression analysis, functional annotation of results using publically available databases and how to work efficiently in R with large genomic datasets. Important principles are demonstrated and illustrated through engaging examples which invite the reader to work with the provided datasets. Some methods that are discussed in this volume include: signatures of selection, population parameters (LD, FST, FIS, etc); use of a genomic relationship matrix for population diversity studies; use of SNP data for parentage testing; snpBLUP and gBLUP for genomic prediction. Step-by-step, all the R code required for a genome-wide association study is shown: starting from raw SNP data, how to build databases to handle and manage the data, quality control and filtering measures, association testing and evaluation of results, through to identification and functional annotation of candidate genes. Similarly, gene expression analyses are shown using microarray and RNAseq data. At a time when genomic data is decidedly big, the skills from this book are critical. In recent years R has become the de facto tool for analysis of gene expression data, in addition to its prominent role in analysis of genomic data. Benefits to using R include the integrated development environment for analysis, flexibility and control of the analytic workflow. Included topics are core components of advanced undergraduate and graduate classes in bioinformatics, genomics and statistical genetics. This book is also designed to be used by students in computer science and statistics who want to learn the practical aspects of genomic analysis without delving into algorithmic details. The datasets used throughout the book may be downloaded from the publisher’s website.

Download or read book Statistical Approaches in Omics Data Association Studies written by Qi Yan and published by Frontiers Media SA. This book was released on 2022-06-07 with total page 169 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book Computational Frameworks for Indel aware Evolutionary Analysis Using Large scale Genomic Sequence Data written by Wei Wang and published by . This book was released on 2021 with total page 167 pages. Available in PDF, EPUB and Kindle. Book excerpt: With the development of sequencing techniques, genetic sequencing data has been extensively used in evolutionary studies. The phylogenetic reconstruction problem, which is the reconstruction of evolutionary history from biomolecular sequences, is a fundamental problem. The evolutionary relationship between organisms is often represented by phylogeny, which is a tree or network representation. The most widely-used approach for reconstructing phylogenies from sequencing data involves two phases: multiple sequence alignment and phylogenetic reconstruction from the aligned sequences. As the amount of biomolecular sequence data increases, it has become a major challenge to develop efficient and accurate computational methods for phylogenetic analyses of large-scale sequencing data. Due to the complexity of the phylogenetic reconstruction problem in modern phylogenetic studies, the traditional sequence-based phylogenetic analysis methods involve many over-simplified assumptions. In this thesis, we describe our contribution in relaxing some of these over-simplified assumptions in the phylogenetic analysis.Insertion and deletion events, referred to as indels, carry much phylogenetic information but are often ignored in the reconstruction process of phylogenies. We take into account the indel uncertainties in multiple phylogenetic analyses by applying resampling and re-estimation. Another over-simplified assumption that we contributed to is adopted by many commonly used non-parametric algorithms for the resampling of biomolecular sequences, all sites in an MSA are evolved independently and identically distributed (i.i.d). Many evolution events, such as recombination and hybridization, may produce intra-sequence and functional dependence in biomolecular sequences that violate this assumption. We introduce SERES, a resampling algorithm for biomolecular sequences that can produce resampled replicates that preserve the intra-sequence dependence. We describe the application of the SERES resampling and re-estimation approach to two classical problems: the multiple sequence alignment support estimation and recombination-aware local genealogical inference. We show that these two statistical inference problems greatly benefit from the indel-aware resampling and re-estimation approach and the reservation of intra-sequence dependence.A major drawback of SERES is that it requires parameters to ensure the synchronization of random walks on unaligned sequences. We introduce RAWR, a non-parametric resampling method designed for phylogenetic tree support estimation that does not require extra parameters. We show that the RAWR-based resampling and re-estimation method produces comparable or typically better performance than the traditional bootstrap approach on the phylogenetic tree support estimation problem.We further relax the commonly used assumption of phylogeny. Evolutionary history is usually considered as a tree structure. Evolutionary events that cause reticulated gene flow are ignored. Previous studies show that alignment uncertainty greatly impacts downstream tree inference and learning. However, there is little discussion about the impact of MSA uncertainties on the phylogenetic network reconstruction. We show evidence that the errors introduced in MSA estimation decrease the accuracy of the inferred phylogenetic network, and an indel-aware reconstruction method is needed for phylogenetic network analysis.In this dissertation, we introduce our contribution to phylogenetic estimation using biomolecular sequence data involving complex evolutionary histories, such as sequence insertion and deletion processes and non-tree-like evolution.

Download or read book Comparative Genomics written by Mathieu Blanchette and published by Springer. This book was released on 2018-10-04 with total page 325 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book constitutes the proceedings of the 16th International Conference on Comparative Genomics, RECOMB-CG 2018, held in Magog-Orford, QC, Canada, in October 2018. The 18 full papers presented were carefully reviewed and selected from 29 submissions. The papers cover topics such as: genome rearrangements; genome sequencing; applied comparative genomics; reconciliation and coalescence; and phylogenetics.

Download or read book Computational Genomics with R written by Altuna Akalin and published by CRC Press. This book was released on 2023-01-09 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book has fundamental theoretical and practical aspects of data analysis, useful for beginners and experienced researchers that are looking for a recipe or an analysis approach. Since R has many packages, even experienced researchers look for how particular functions are used in an analysis workflow.

Download or read book Computational Methods for Next Generation Sequencing Data Analysis written by Ion Mandoiu and published by John Wiley & Sons. This book was released on 2016-10-03 with total page 460 pages. Available in PDF, EPUB and Kindle. Book excerpt: Introduces readers to core algorithmic techniques for next-generation sequencing (NGS) data analysis and discusses a wide range of computational techniques and applications This book provides an in-depth survey of some of the recent developments in NGS and discusses mathematical and computational challenges in various application areas of NGS technologies. The 18 chapters featured in this book have been authored by bioinformatics experts and represent the latest work in leading labs actively contributing to the fast-growing field of NGS. The book is divided into four parts: Part I focuses on computing and experimental infrastructure for NGS analysis, including chapters on cloud computing, modular pipelines for metabolic pathway reconstruction, pooling strategies for massive viral sequencing, and high-fidelity sequencing protocols. Part II concentrates on analysis of DNA sequencing data, covering the classic scaffolding problem, detection of genomic variants, including insertions and deletions, and analysis of DNA methylation sequencing data. Part III is devoted to analysis of RNA-seq data. This part discusses algorithms and compares software tools for transcriptome assembly along with methods for detection of alternative splicing and tools for transcriptome quantification and differential expression analysis. Part IV explores computational tools for NGS applications in microbiomics, including a discussion on error correction of NGS reads from viral populations, methods for viral quasispecies reconstruction, and a survey of state-of-the-art methods and future trends in microbiome analysis. Computational Methods for Next Generation Sequencing Data Analysis: Reviews computational techniques such as new combinatorial optimization methods, data structures, high performance computing, machine learning, and inference algorithms Discusses the mathematical and computational challenges in NGS technologies Covers NGS error correction, de novo genome transcriptome assembly, variant detection from NGS reads, and more This text is a reference for biomedical professionals interested in expanding their knowledge of computational techniques for NGS data analysis. The book is also useful for graduate and post-graduate students in bioinformatics.

Download or read book Computational Methods for Mass Spectrometry Proteomics written by Ingvar Eidhammer and published by John Wiley & Sons. This book was released on 2008-02-28 with total page 296 pages. Available in PDF, EPUB and Kindle. Book excerpt: Proteomics is the study of the subsets of proteins present in different parts of an organism and how they change with time and varying conditions. Mass spectrometry is the leading technology used in proteomics, and the field relies heavily on bioinformatics to process and analyze the acquired data. Since recent years have seen tremendous developments in instrumentation and proteomics-related bioinformatics, there is clearly a need for a solid introduction to the crossroads where proteomics and bioinformatics meet. Computational Methods for Mass Spectrometry Proteomics describes the different instruments and methodologies used in proteomics in a unified manner. The authors put an emphasis on the computational methods for the different phases of a proteomics analysis, but the underlying principles in protein chemistry and instrument technology are also described. The book is illustrated by a number of figures and examples, and contains exercises for the reader. Written in an accessible yet rigorous style, it is a valuable reference for both informaticians and biologists. Computational Methods for Mass Spectrometry Proteomics is suited for advanced undergraduate and graduate students of bioinformatics and molecular biology with an interest in proteomics. It also provides a good introduction and reference source for researchers new to proteomics, and for people who come into more peripheral contact with the field.

Download or read book Computational Reconstruction of Missing Data in Biological Research written by Feng Bao and published by Springer Nature. This book was released on 2021-08-06 with total page 105 pages. Available in PDF, EPUB and Kindle. Book excerpt: The emerging biotechnologies have significantly advanced the study of biological mechanisms. However, biological data usually contain a great amount of missing information, e.g. missing features, missing labels or missing samples, which greatly limits the extensive usage of the data. In this book, we introduce different types of biological data missing scenarios and propose machine learning models to improve the data analysis, including deep recurrent neural network recovery for feature missings, robust information theoretic learning for label missings and structure-aware rebalancing for minor sample missings. Models in the book cover the fields of imbalance learning, deep learning, recurrent neural network and statistical inference, providing a wide range of references of the integration between artificial intelligence and biology. With simulated and biological datasets, we apply approaches to a variety of biological tasks, including single-cell characterization, genome-wide association studies, medical image segmentations, and quantify the performances in a number of successful metrics. The outline of this book is as follows. In Chapter 2, we introduce the statistical recovery of missing data features; in Chapter 3, we introduce the statistical recovery of missing labels; in Chapter 4, we introduce the statistical recovery of missing data sample information; finally, in Chapter 5, we summarize the full text and outlook future directions. This book can be used as references for researchers in computational biology, bioinformatics and biostatistics. Readers are expected to have basic knowledge of statistics and machine learning.

Download or read book Data Mining and Statistical Methods for Knowledge Discovery in Diseases Based on Multimodal Omics written by Jiajie Peng and published by Frontiers Media SA. This book was released on 2022-06-06 with total page 160 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book Deep Learning Innovations and Their Convergence With Big Data written by Karthik, S. and published by IGI Global. This book was released on 2017-07-13 with total page 265 pages. Available in PDF, EPUB and Kindle. Book excerpt: The expansion of digital data has transformed various sectors of business such as healthcare, industrial manufacturing, and transportation. A new way of solving business problems has emerged through the use of machine learning techniques in conjunction with big data analytics. Deep Learning Innovations and Their Convergence With Big Data is a pivotal reference for the latest scholarly research on upcoming trends in data analytics and potential technologies that will facilitate insight in various domains of science, industry, business, and consumer applications. Featuring extensive coverage on a broad range of topics and perspectives such as deep neural network, domain adaptation modeling, and threat detection, this book is ideally designed for researchers, professionals, and students seeking current research on the latest trends in the field of deep learning techniques in big data analytics.

Download or read book Handbook on Analyzing Human Genetic Data written by Shili Lin and published by Springer Science & Business Media. This book was released on 2009-10-13 with total page 340 pages. Available in PDF, EPUB and Kindle. Book excerpt: This handbook offers guidance on selections of appropriate computational methods and software packages for specific genetic problems. Coverage strikes a balance between methodological expositions and practical guidelines for software selections. Wherever possible, comparisons among competing methods and software are made to highlight the relative advantages and disadvantage of the approaches.