Genomics In The Cloud

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

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.

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.

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.

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.

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.

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.

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.