Data Science for Genomics presents the foundational concepts of data science as they pertain to genomics, encompassing the process of inspecting, cleaning, transforming, and modeling data with the goal of discovering useful information, suggesting conclusions and supporting decision-making. Sections cover Data Science, Machine Learning, Deep Learning, data analysis, and visualization techniques. The authors then present the fundamentals of Genomics, Genetics, Transcriptomes and Proteomes as basic concepts of molecular biology, along with DNA and key features of the human genome, as well as the genomes of eukaryotes and prokaryotes. Techniques that are more specifically used for studying genomes are then described in the order in which they are used in a genome project, including methods for constructing genetic and physical maps. DNA sequencing methodology and the strategies used to assemble a contiguous genome sequence and methods for identifying genes in a genome sequence and determining the functions of those genes in the cell. Readers will learn how the information contained in the genome is released and made available to the cell, as well as methods centered on cloning and PCR. - Provides a detailed explanation of data science concepts, methods and algorithms, all reinforced by practical examples that are applied to genomics - Presents a roadmap of future trends suitable for innovative Data Science research and practice - Includes topics such as Blockchain technology for securing data at end user/server side - Presents real world case studies, open issues and challenges faced in Genomics, including future research directions and a separate chapter for Ethical Concerns

This contributed volume explores the emerging intersection between big data analytics and genomics. Recent sequencing technologies have enabled high-throughput sequencing data generation for genomics resulting in several international projects which have led to massive genomic data accumulation at an unprecedented pace. To reveal novel genomic insights from this data within a reasonable time frame, traditional data analysis methods may not be sufficient or scalable, forcing the need for big data analytics to be developed for genomics. The computational methods addressed in the book are intended to tackle crucial biological questions using big data, and are appropriate for either newcomers or veterans in the field.This volume offers thirteen peer-reviewed contributions, written by international leading experts from different regions, representing Argentina, Brazil, China, France, Germany, Hong Kong, India, Japan, Spain, and the USA. In particular, the book surveys three main areas: statistical analytics, computational analytics, and cancer genome analytics. Sample topics covered include: statistical methods for integrative analysis of genomic data, computation methods for protein function prediction, and perspectives on machine learning techniques in big data mining of cancer. Self-contained and suitable for graduate students, this book is also designed for bioinformaticians, computational biologists, and researchers in communities ranging from genomics, big data, molecular genetics, data mining, biostatistics, biomedical science, cancer research, medical research, and biology to machine learning and computer science. Readers will find this volume to be an essential read for appreciating the role of big data in genomics, making this an invaluable resource for stimulating further research on the topic.

This book presents state-of-the-art analytical methods from statistics and data mining for the analysis of high-throughput data from genomics and proteomics. It adopts an approach focusing on concepts and applications and presents key analytical techniques for the analysis of genomics and proteomics data by detailing their underlying principles, merits and limitations.

Data Mining and Applications in Genomics contains the data mining algorithms and their applications in genomics, with frontier case studies based on the recent and current works at the University of Hong Kong and the Oxford University Computing Laboratory, University of Oxford. It provides a systematic introduction to the use of data mining algorithms as an investigative tool for applications in genomics. Data Mining and Applications in Genomics offers state of the art of tremendous advances in data mining algorithms and applications in genomics and also serves as an excellent reference work for researchers and graduate students working on data mining algorithms and applications in genomics.

Convergence has been a key topic of discussion about the future of cyberinfrastructure for science and engineering research. Convergence refers both to the combined use of simulation and data-centric techniques in science and engineering research and the possibilities for a single type of cyberinfrastructure to support both techniques. The National Academies of Science, Engineering, and Medicine convened a Workshop on Converging Simulation and Data-Driven Science on May 10, 2018, in Washington, D.C. The workshop featured speakers from universities, national laboratories, technology companies, and federal agencies who addressed the potential benefits and limitations of convergence as they relate to scientific needs, technological capabilities, funding structures, and system design requirements. This publication summarizes the presentations and discussions from the workshop.

Learn concepts, methodologies, and applications of deep learning for building predictive models from complex genomics data sets to overcome challenges in the life sciences and biotechnology industries Key FeaturesApply deep learning algorithms to solve real-world problems in the field of genomicsExtract biological insights from deep learning models built from genomic datasetsTrain, tune, evaluate, deploy, and monitor deep learning models for enabling predictions in genomicsBook Description Deep learning has shown remarkable promise in the field of genomics; however, there is a lack of a skilled deep learning workforce in this discipline. This book will help researchers and data scientists to stand out from the rest of the crowd and solve real-world problems in genomics by developing the necessary skill set. Starting with an introduction to the essential concepts, this book highlights the power of deep learning in handling big data in genomics. First, you'll learn about conventional genomics analysis, then transition to state-of-the-art machine learning-based genomics applications, and finally dive into deep learning approaches for genomics. The book covers all of the important deep learning algorithms commonly used by the research community and goes into the details of what they are, how they work, and their practical applications in genomics. The book dedicates an entire section to operationalizing deep learning models, which will provide the necessary hands-on tutorials for researchers and any deep learning practitioners to build, tune, interpret, deploy, evaluate, and monitor deep learning models from genomics big data sets. By the end of this book, you'll have learned about the challenges, best practices, and pitfalls of deep learning for genomics. What you will learnDiscover the machine learning applications for genomicsExplore deep learning concepts and methodologies for genomics applicationsUnderstand supervised deep learning algorithms for genomics applicationsGet to grips with unsupervised deep learning with autoencodersImprove deep learning models using generative modelsOperationalize deep learning models from genomics datasetsVisualize and interpret deep learning modelsUnderstand deep learning challenges, pitfalls, and best practicesWho this book is for This deep learning book is for machine learning engineers, data scientists, and academicians practicing in the field of genomics. It assumes that readers have intermediate Python programming knowledge, basic knowledge of Python libraries such as NumPy and Pandas to manipulate and parse data, Matplotlib, and Seaborn for visualizing data, along with a base in genomics and genomic analysis concepts.

At the crossroads between statistics and machine learning, probabilistic graphical models (PGMs) provide a powerful formal framework to model complex data. An expanding volume of biological data of various types, the so-called 'omics', is in need of accurate and efficient methods for modelling and PGMs are expected to have a prominent role to play.

As technology evolves and electronic data becomes more complex, digital medical record management and analysis becomes a challenge. In order to discover patterns and make relevant predictions based on large data sets, researchers and medical professionals must find new methods to analyze and extract relevant health information. Big Data Analytics in Bioinformatics and Healthcare merges the fields of biology, technology, and medicine in order to present a comprehensive study on the emerging information processing applications necessary in the field of electronic medical record management. Complete with interdisciplinary research resources, this publication is an essential reference source for researchers, practitioners, and students interested in the fields of biological computation, database management, and health information technology, with a special focus on the methodologies and tools to manage massive and complex electronic information.

Overview of biomedical data science -- Spreadsheet tools and tips -- Biostatistics primer -- Data visualization -- Introduction to databases -- Big data -- Bioinformatics and precision medicine -- Programming languages for data analysis -- Machine learning -- Artificial intelligence -- Biomedical data science resources -- Appendix A: Glossary -- Appendix B: Using data.world -- Appendix C: Chapter exercises.

A timely update of a highly popular handbook on statistical genomics This new, two-volume edition of a classic text provides a thorough introduction to statistical genomics, a vital resource for advanced graduate students, early-career researchers and new entrants to the field. It introduces new and updated information on developments that have occurred since the 3rd edition. Widely regarded as the reference work in the field, it features new chapters focusing on statistical aspects of data generated by new sequencing technologies, including sequence-based functional assays. It expands on previous coverage of the many processes between genotype and phenotype, including gene expression and epigenetics, as well as metabolomics. It also examines population genetics and evolutionary models and inference, with new chapters on the multi-species coalescent, admixture and ancient DNA, as well as genetic association studies including causal analyses and variant interpretation. The Handbook of Statistical Genomics focuses on explaining the main ideas, analysis methods and algorithms, citing key recent and historic literature for further details and references. It also includes a glossary of terms, acronyms and abbreviations, and features extensive cross-referencing between chapters, tying the different areas together. With heavy use of up-to-date examples and references to web-based resources, this continues to be a must-have reference in a vital area of research. Provides much-needed, timely coverage of new developments in this expanding area of study Numerous, brand new chapters, for example covering bacterial genomics, microbiome and metagenomics Detailed coverage of application areas, with chapters on plant breeding, conservation and forensic genetics Extensive coverage of human genetic epidemiology, including ethical aspects Edited by one of the leading experts in the field along with rising stars as his co-editors Chapter authors are world-renowned experts in the field, and newly emerging leaders. The Handbook of Statistical Genomics is an excellent introductory text for advanced graduate students and early-career researchers involved in statistical genetics.