Genomics in the Cloud

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Publisher : O'Reilly Media
ISBN 13 : 1491975164
Total Pages : 496 pages
Book Rating : 4.4/5 (919 download)

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Book Synopsis Genomics in the Cloud by : Geraldine A. Van der Auwera

Download or read book Genomics in the Cloud written by Geraldine A. Van der Auwera and published by O'Reilly Media. This book was released on 2020-04-02 with total page 496 pages. Available in PDF, EPUB and Kindle. Book excerpt: Data in the genomics field is booming. In just a few years, organizations such as the National Institutes of Health (NIH) will host 50+ petabytes—or over 50 million gigabytes—of genomic data, and they’re turning to cloud infrastructure to make that data available to the research community. How do you adapt analysis tools and protocols to access and analyze that volume of data in the cloud? With this practical book, researchers will learn how to work with genomics algorithms using open source tools including the Genome Analysis Toolkit (GATK), Docker, WDL, and Terra. Geraldine Van der Auwera, longtime custodian of the GATK user community, and Brian O’Connor of the UC Santa Cruz Genomics Institute, guide you through the process. You’ll learn by working with real data and genomics algorithms from the field. This book covers: Essential genomics and computing technology background Basic cloud computing operations Getting started with GATK, plus three major GATK Best Practices pipelines Automating analysis with scripted workflows using WDL and Cromwell Scaling up workflow execution in the cloud, including parallelization and cost optimization Interactive analysis in the cloud using Jupyter notebooks Secure collaboration and computational reproducibility using Terra

Genomics in the Cloud

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Publisher : "O'Reilly Media, Inc."
ISBN 13 : 1491975148
Total Pages : 570 pages
Book Rating : 4.4/5 (919 download)

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Book Synopsis Genomics in the Cloud by : Geraldine A. Van der Auwera

Download or read book Genomics in the Cloud written by Geraldine A. Van der Auwera and published by "O'Reilly Media, Inc.". This book was released on 2020-04-02 with total page 570 pages. Available in PDF, EPUB and Kindle. Book excerpt: Data in the genomics field is booming. In just a few years, organizations such as the National Institutes of Health (NIH) will host 50+ petabytesâ??or over 50 million gigabytesâ??of genomic data, and theyâ??re turning to cloud infrastructure to make that data available to the research community. How do you adapt analysis tools and protocols to access and analyze that volume of data in the cloud? With this practical book, researchers will learn how to work with genomics algorithms using open source tools including the Genome Analysis Toolkit (GATK), Docker, WDL, and Terra. Geraldine Van der Auwera, longtime custodian of the GATK user community, and Brian Oâ??Connor of the UC Santa Cruz Genomics Institute, guide you through the process. Youâ??ll learn by working with real data and genomics algorithms from the field. This book covers: Essential genomics and computing technology background Basic cloud computing operations Getting started with GATK, plus three major GATK Best Practices pipelines Automating analysis with scripted workflows using WDL and Cromwell Scaling up workflow execution in the cloud, including parallelization and cost optimization Interactive analysis in the cloud using Jupyter notebooks Secure collaboration and computational reproducibility using Terra

Genomics in the Cloud

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Publisher :
ISBN 13 : 9781491975183
Total Pages : 300 pages
Book Rating : 4.9/5 (751 download)

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Book Synopsis Genomics in the Cloud by : Geraldine Van der Auwera

Download or read book Genomics in the Cloud written by Geraldine Van der Auwera and published by . This book was released on 2020 with total page 300 pages. Available in PDF, EPUB and Kindle. Book excerpt: Data in the genomics field is booming. In just a few years, organizations such as the National Institutes of Health (NIH) will host 50+ petabytes-or 52.4 million gigabytes-of genomic data, and they're turning to cloud infrastructure to make that data available to the research community. How do you adapt analysis tools and protocols to access and analyze that data in the cloud? With this practical book, researchers will learn how to work with genomics algorithms using open source tools including the Genome Analysis Toolkit (GATK), Docker, WDL, and Terra. Brian O'Connor of the UC Santa Cruz Genomics Institute and Geraldine Van der Auwera, longtime custodian of the GATK user community, guide you through the process. You'll learn by working with real data and genomics algorithms from the field. This book takes you through: Essential genomics and computing technology background Basic cloud computing operations Getting started with GATK Three major GATK best practices for variant discovery pipelines Automating analysis with scripted workflows using WDL and Cromwell Scaling up workflow execution in the cloud, including parallelization and cost optimization Interactive analysis in the cloud using Jupyter notebooks Secure collaboration and computational reproducibility using Terra.

Genomics in the AWS Cloud

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Publisher : Wiley
ISBN 13 : 9781119573371
Total Pages : 0 pages
Book Rating : 4.5/5 (733 download)

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Book Synopsis Genomics in the AWS Cloud by : Catherine Vacher

Download or read book Genomics in the AWS Cloud written by Catherine Vacher and published by Wiley. This book was released on 2023-05-02 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Perform genome analysis and sequencing of data with Amazon Web Services Genomics in the AWS Cloud: Analyzing Genetic Code Using Amazon Web Services enables a person who has moderate familiarity with AWS Cloud to perform full genome analysis and research. Using the information in this book, you’ll be able to take a FASTQ file containing raw data from a lab or a BAM file from a service provider and perform genome analysis on it. You’ll also be able to identify potentially pathogenic gene sequences. • Get an introduction to Whole Genome Sequencing (WGS) • Make sense of WGS on AWS • Master AWS services for genome analysis Some key advantages of using AWS for genomic analysis is to help researchers utilize a wide choice of compute services that can process diverse datasets in analysis pipelines. Genomic sequencers that generate raw data files are located in labs on premises and AWS provides solutions to make it easy for customers to transfer these files to AWS reliably and securely. Storing Genomics and Medical (e.g., imaging) data at different stages requires enormous storage in a cost-effective manner. Amazon Simple Storage Service (Amazon S3), Amazon Glacier, and Amazon Elastics Block Store (Amazon EBS) provide the necessary solutions to securely store, manage, and scale genomic file storage. Moreover, the storage services can interface with various compute services from AWS to process these files. Whether you’re just getting started or have already been analyzing genomics data using the AWS Cloud, this book provides you with the information you need in order to use AWS services and features in the ways that will make the most sense for your genomic research.

Cloud Computing for Science and Engineering

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Publisher : MIT Press
ISBN 13 : 0262037246
Total Pages : 391 pages
Book Rating : 4.2/5 (62 download)

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Book Synopsis Cloud Computing for Science and Engineering by : Ian Foster

Download or read book Cloud Computing for Science and Engineering written by Ian Foster and published by MIT Press. This book was released on 2017-09-29 with total page 391 pages. Available in PDF, EPUB and Kindle. Book excerpt: A guide to cloud computing for students, scientists, and engineers, with advice and many hands-on examples. The emergence of powerful, always-on cloud utilities has transformed how consumers interact with information technology, enabling video streaming, intelligent personal assistants, and the sharing of content. Businesses, too, have benefited from the cloud, outsourcing much of their information technology to cloud services. Science, however, has not fully exploited the advantages of the cloud. Could scientific discovery be accelerated if mundane chores were automated and outsourced to the cloud? Leading computer scientists Ian Foster and Dennis Gannon argue that it can, and in this book offer a guide to cloud computing for students, scientists, and engineers, with advice and many hands-on examples. The book surveys the technology that underpins the cloud, new approaches to technical problems enabled by the cloud, and the concepts required to integrate cloud services into scientific work. It covers managing data in the cloud, and how to program these services; computing in the cloud, from deploying single virtual machines or containers to supporting basic interactive science experiments to gathering clusters of machines to do data analytics; using the cloud as a platform for automating analysis procedures, machine learning, and analyzing streaming data; building your own cloud with open source software; and cloud security. The book is accompanied by a website, Cloud4SciEng.org, that provides a variety of supplementary material, including exercises, lecture slides, and other resources helpful to readers and instructors.

Next Steps for Functional Genomics

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Publisher : National Academies Press
ISBN 13 : 0309676738
Total Pages : 201 pages
Book Rating : 4.3/5 (96 download)

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Book Synopsis Next Steps for Functional Genomics by : National Academies of Sciences, Engineering, and Medicine

Download or read book Next Steps for Functional Genomics written by National Academies of Sciences, Engineering, and Medicine and published by National Academies Press. This book was released on 2020-12-18 with total page 201 pages. Available in PDF, EPUB and Kindle. Book excerpt: One of the holy grails in biology is the ability to predict functional characteristics from an organism's genetic sequence. Despite decades of research since the first sequencing of an organism in 1995, scientists still do not understand exactly how the information in genes is converted into an organism's phenotype, its physical characteristics. Functional genomics attempts to make use of the vast wealth of data from "-omics" screens and projects to describe gene and protein functions and interactions. A February 2020 workshop was held to determine research needs to advance the field of functional genomics over the next 10-20 years. Speakers and participants discussed goals, strategies, and technical needs to allow functional genomics to contribute to the advancement of basic knowledge and its applications that would benefit society. This publication summarizes the presentations and discussions from the workshop.

Cloud Computing

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Publisher : BoD – Books on Demand
ISBN 13 : 9535132431
Total Pages : 142 pages
Book Rating : 4.5/5 (351 download)

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Book Synopsis Cloud Computing by : Jaydip Sen

Download or read book Cloud Computing written by Jaydip Sen and published by BoD – Books on Demand. This book was released on 2017-06-14 with total page 142 pages. Available in PDF, EPUB and Kindle. Book excerpt: In the era of Internet of Things and with the explosive worldwide growth of electronic data volume, and associated need of processing, analysis, and storage of such humongous volume of data, it has now become mandatory to exploit the power of massively parallel architecture for fast computation. Cloud computing provides a cheap source of such computing framework for large volume of data for real-time applications. It is, therefore, not surprising to see that cloud computing has become a buzzword in the computing fraternity over the last decade. This book presents some critical applications in cloud frameworks along with some innovation design of algorithms and architecture for deployment in cloud environment. It is a valuable source of knowledge for researchers, engineers, practitioners, and graduate and doctoral students working in the field of cloud computing. It will also be useful for faculty members of graduate schools and universities.

Fog Computing

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Publisher : John Wiley & Sons
ISBN 13 : 1119551692
Total Pages : 616 pages
Book Rating : 4.1/5 (195 download)

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Book Synopsis Fog Computing by : Assad Abbas

Download or read book Fog Computing written by Assad Abbas and published by John Wiley & Sons. This book was released on 2020-04-21 with total page 616 pages. Available in PDF, EPUB and Kindle. Book excerpt: Summarizes the current state and upcoming trends within the area of fog computing Written by some of the leading experts in the field, Fog Computing: Theory and Practice focuses on the technological aspects of employing fog computing in various application domains, such as smart healthcare, industrial process control and improvement, smart cities, and virtual learning environments. In addition, the Machine-to-Machine (M2M) communication methods for fog computing environments are covered in depth. Presented in two parts—Fog Computing Systems and Architectures, and Fog Computing Techniques and Application—this book covers such important topics as energy efficiency and Quality of Service (QoS) issues, reliability and fault tolerance, load balancing, and scheduling in fog computing systems. It also devotes special attention to emerging trends and the industry needs associated with utilizing the mobile edge computing, Internet of Things (IoT), resource and pricing estimation, and virtualization in the fog environments. Includes chapters on deep learning, mobile edge computing, smart grid, and intelligent transportation systems beyond the theoretical and foundational concepts Explores real-time traffic surveillance from video streams and interoperability of fog computing architectures Presents the latest research on data quality in the IoT, privacy, security, and trust issues in fog computing Fog Computing: Theory and Practice provides a platform for researchers, practitioners, and graduate students from computer science, computer engineering, and various other disciplines to gain a deep understanding of fog computing.

Handbook of Statistical Genomics

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Publisher : John Wiley & Sons
ISBN 13 : 1119429250
Total Pages : 1828 pages
Book Rating : 4.1/5 (194 download)

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Book Synopsis Handbook of Statistical Genomics by : David J. Balding

Download or read book Handbook of Statistical Genomics written by David J. Balding and published by John Wiley & Sons. This book was released on 2019-07-09 with total page 1828 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

The Material Gene

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Publisher : NYU Press
ISBN 13 : 0814790690
Total Pages : 305 pages
Book Rating : 4.8/5 (147 download)

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Book Synopsis The Material Gene by : Kelly E. Happe

Download or read book The Material Gene written by Kelly E. Happe and published by NYU Press. This book was released on 2013-05-06 with total page 305 pages. Available in PDF, EPUB and Kindle. Book excerpt: Winner of the 2014 Diamond Anniversary Book Award Finalist for the 2014 National Communications Association Critical and Cultural Studies Division Book of the Year Award In 2000, the National Human Genome Research Institute announced the completion of a “draft” of the human genome, the sequence information of nearly all 3 billion base pairs of DNA. Since then, interest in the hereditary basis of disease has increased considerably. In The Material Gene, Kelly E. Happe considers the broad implications of this development by treating “heredity” as both a scientific and political concept. Beginning with the argument that eugenics was an ideological project that recast the problems of industrialization as pathologies of gender, race, and class, the book traces the legacy of this ideology in contemporary practices of genomics. Delving into the discrete and often obscure epistemologies and discursive practices of genomic scientists, Happe maps the ways in which the hereditarian body, one that is also normatively gendered and racialized, is the new site whereby economic injustice, environmental pollution, racism, and sexism are implicitly reinterpreted as pathologies of genes and by extension, the bodies they inhabit. Comparing genomic approaches to medicine and public health with discourses of epidemiology, social movements, and humanistic theories of the body and society, The Material Gene reworks our common assumption of what might count as effective, just, and socially transformative notions of health and disease.

IBM Spectrum Scale Best Practices for Genomics Medicine Workloads

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Publisher : IBM Redbooks
ISBN 13 : 0738456756
Total Pages : 78 pages
Book Rating : 4.7/5 (384 download)

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Book Synopsis IBM Spectrum Scale Best Practices for Genomics Medicine Workloads by : Joanna Wong

Download or read book IBM Spectrum Scale Best Practices for Genomics Medicine Workloads written by Joanna Wong and published by IBM Redbooks. This book was released on 2018-04-25 with total page 78 pages. Available in PDF, EPUB and Kindle. Book excerpt: Advancing the science of medicine by targeting a disease more precisely with treatment specific to each patient relies on access to that patient's genomics information and the ability to process massive amounts of genomics data quickly. Although genomics data is becoming a critical source for precision medicine, it is expected to create an expanding data ecosystem. Therefore, hospitals, genome centers, medical research centers, and other clinical institutes need to explore new methods of storing, accessing, securing, managing, sharing, and analyzing significant amounts of data. Healthcare and life sciences organizations that are running data-intensive genomics workloads on an IT infrastructure that lacks scalability, flexibility, performance, management, and cognitive capabilities also need to modernize and transform their infrastructure to support current and future requirements. IBM® offers an integrated solution for genomics that is based on composable infrastructure. This solution enables administrators to build an IT environment in a way that disaggregates the underlying compute, storage, and network resources. Such a composable building block based solution for genomics addresses the most complex data management aspect and allows organizations to store, access, manage, and share huge volumes of genome sequencing data. IBM SpectrumTM Scale is software-defined storage that is used to manage storage and provide massive scale, a global namespace, and high-performance data access with many enterprise features. IBM Spectrum ScaleTM is used in clustered environments, provides unified access to data via file protocols (POSIX, NFS, and SMB) and object protocols (Swift and S3), and supports analytic workloads via HDFS connectors. Deploying IBM Spectrum Scale and IBM Elastic StorageTM Server (IBM ESS) as a composable storage building block in a Genomics Next Generation Sequencing deployment offers key benefits of performance, scalability, analytics, and collaboration via multiple protocols. This IBM RedpaperTM publication describes a composable solution with detailed architecture definitions for storage, compute, and networking services for genomics next generation sequencing that enable solution architects to benefit from tried-and-tested deployments, to quickly plan and design an end-to-end infrastructure deployment. The preferred practices and fully tested recommendations described in this paper are derived from running GATK Best Practices work flow from the Broad Institute. The scenarios provide all that is required, including ready-to-use configuration and tuning templates for the different building blocks (compute, network, and storage), that can enable simpler deployment and that can enlarge the level of assurance over the performance for genomics workloads. The solution is designed to be elastic in nature, and the disaggregation of the building blocks allows IT administrators to easily and optimally configure the solution with maximum flexibility. The intended audience for this paper is technical decision makers, IT architects, deployment engineers, and administrators who are working in the healthcare domain and who are working on genomics-based workloads.

Cancer Genomics

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Publisher : Academic Press
ISBN 13 : 0123972744
Total Pages : 510 pages
Book Rating : 4.1/5 (239 download)

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Book Synopsis Cancer Genomics by : Graham Dellaire

Download or read book Cancer Genomics written by Graham Dellaire and published by Academic Press. This book was released on 2013-11-21 with total page 510 pages. Available in PDF, EPUB and Kindle. Book excerpt: Cancer Genomics addresses how recent technological advances in genomics are shaping how we diagnose and treat cancer. Built on the historical context of cancer genetics over the past 30 years, the book provides a snapshot of the current issues and state-of-the-art technologies used in cancer genomics. Subsequent chapters highlight how these approaches have informed our understanding of hereditary cancer syndromes and the diagnosis, treatment and outcome in a variety of adult and pediatric solid tumors and hematologic malignancies. The dramatic increase in cancer genomics research and ever-increasing availability of genomic testing are not without significant ethical issues, which are addressed in the context of the return of research results and the legal considerations underlying the commercialization of genomic discoveries. Finally, the book concludes with "Future Directions", examining the next great challenges to face the field of cancer genomics, namely the contribution of non-coding RNAs to disease pathogenesis and the interaction of the human genome with the environment. Tools such as sidebars, key concept summaries, a glossary, and acronym and abbreviation definitions make this book highly accessible to researchers from several fields associated with cancer genomics. Contributions from thought leaders provide valuable historical perspective to relate the advances in the field to current technologies and literature.

Handbook of Research on Cloud Infrastructures for Big Data Analytics

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Publisher : IGI Global
ISBN 13 : 1466658657
Total Pages : 570 pages
Book Rating : 4.4/5 (666 download)

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Book Synopsis Handbook of Research on Cloud Infrastructures for Big Data Analytics by : Raj, Pethuru

Download or read book Handbook of Research on Cloud Infrastructures for Big Data Analytics written by Raj, Pethuru and published by IGI Global. This book was released on 2014-03-31 with total page 570 pages. Available in PDF, EPUB and Kindle. Book excerpt: Clouds are being positioned as the next-generation consolidated, centralized, yet federated IT infrastructure for hosting all kinds of IT platforms and for deploying, maintaining, and managing a wider variety of personal, as well as professional applications and services. Handbook of Research on Cloud Infrastructures for Big Data Analytics focuses exclusively on the topic of cloud-sponsored big data analytics for creating flexible and futuristic organizations. This book helps researchers and practitioners, as well as business entrepreneurs, to make informed decisions and consider appropriate action to simplify and streamline the arduous journey towards smarter enterprises.

High Performance Computing

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Publisher : Springer Nature
ISBN 13 : 3030598519
Total Pages : 382 pages
Book Rating : 4.0/5 (35 download)

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Book Synopsis High Performance Computing by : Heike Jagode

Download or read book High Performance Computing written by Heike Jagode and published by Springer Nature. This book was released on 2020-10-19 with total page 382 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book constitutes the refereed post-conference proceedings of 10 workshops held at the 35th International ISC High Performance 2020 Conference, in Frankfurt, Germany, in June 2020: First Workshop on Compiler-assisted Correctness Checking and Performance Optimization for HPC (C3PO); First International Workshop on the Application of Machine Learning Techniques to Computational Fluid Dynamics Simulations and Analysis (CFDML); HPC I/O in the Data Center Workshop (HPC-IODC); First Workshop \Machine Learning on HPC Systems" (MLHPCS); First International Workshop on Monitoring and Data Analytics (MODA); 15th Workshop on Virtualization in High-Performance Cloud Computing (VHPC). The 25 full papers included in this volume were carefully reviewed and selected. They cover all aspects of research, development, and application of large-scale, high performance experimental and commercial systems. Topics include high-performance computing (HPC), computer architecture and hardware, programming models, system software, performance analysis and modeling, compiler analysis and optimization techniques, software sustainability, scientific applications, deep learning.

Genomics-Enabled Learning Health Care Systems

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Publisher : National Academies Press
ISBN 13 : 0309371155
Total Pages : 116 pages
Book Rating : 4.3/5 (93 download)

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Book Synopsis Genomics-Enabled Learning Health Care Systems by : Institute of Medicine

Download or read book Genomics-Enabled Learning Health Care Systems written by Institute of Medicine and published by National Academies Press. This book was released on 2015-07-08 with total page 116 pages. Available in PDF, EPUB and Kindle. Book excerpt: The inclusion of genomic data in a knowledge-generating health care system infrastructure is one promising way to harness the full potential of that information to provide better patient care. In such a system, clinical practice and research influence each other with the goal of improving the efficiency and effectiveness of disease prevention, diagnosis, and treatment. To examine pragmatic approaches to incorporating genomics in learning health care systems, the Institute of Medicine Roundtable on Translating Genomic-Based Research for Health hosted a workshop which convened a variety of stakeholder groups, including commercial developers, health information technology professionals, clinical providers, academic researchers, patient groups, and government and health system representatives, to present their perspectives and participate in discussions on maximizing the value that can be obtained from genomic information. The workshop examined how a variety of systems are capturing and making use of genomic data to generate knowledge for advancing health care in the 21st century. It also sought to evaluate the challenges, opportunities, and best practices for capturing or using genomic information in knowledge-generating health care systems. Genomics-Enabled Learning Health Care Systems summarizes the presentations and discussion of the workshop.

Essential Genetics

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Publisher : Jones & Bartlett Learning
ISBN 13 : 9780763735272
Total Pages : 628 pages
Book Rating : 4.7/5 (352 download)

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Book Synopsis Essential Genetics by : Daniel L. Hartl

Download or read book Essential Genetics written by Daniel L. Hartl and published by Jones & Bartlett Learning. This book was released on 2006 with total page 628 pages. Available in PDF, EPUB and Kindle. Book excerpt: Completely updated to reflect new discoveries and current thinking in the field, the Fourth Edition of Essential Genetics is designed for the shorter, less comprehensive introductory course in genetics. The text is written in a clear, lively, and concise manner and includes many special features that make the book user friendly. Topics were carefully chosen to provide a solid foundation for understanding the basic processes of gene transmission, mutation, expression, and regulation. The text also helps students develop skills in problem solving, achieve a sense of the social and historical context in which genetics has developed, and become aware of the genetic resources and information available through the Internet.

Clinical Applications for Next-Generation Sequencing

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Publisher : Academic Press
ISBN 13 : 0128018410
Total Pages : 334 pages
Book Rating : 4.1/5 (28 download)

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Book Synopsis Clinical Applications for Next-Generation Sequencing by : Urszula Demkow

Download or read book Clinical Applications for Next-Generation Sequencing written by Urszula Demkow and published by Academic Press. This book was released on 2015-09-10 with total page 334 pages. Available in PDF, EPUB and Kindle. Book excerpt: Clinical Applications for Next Generation Sequencing provides readers with an outstanding postgraduate resource to learn about the translational use of NGS in clinical environments. Rooted in both medical genetics and clinical medicine, the book fills the gap between state-of-the-art technology and evidence-based practice, providing an educational opportunity for users to advance patient care by transferring NGS to the needs of real-world patients. The book builds an interface between genetic laboratory staff and clinical health workers to not only improve communication, but also strengthen cooperation. Users will find valuable tactics they can use to build a systematic framework for understanding the role of NGS testing in both common and rare diseases and conditions, from prenatal care, like chromosomal abnormalities, up to advanced age problems like dementia. Fills the gap between state-of-the-art technology and evidence-based practice Provides an educational opportunity which advances patient care through the transfer of NGS to real-world patient assessment Promotes a practical tool that clinicians can apply directly to patient care Includes a systematic framework for understanding the role of NGS testing in many common and rare diseases Presents evidence regarding the important role of NGS in current diagnostic strategies