Download or read book Variant Calling written by Charlotte Ng and published by Springer Nature. This book was released on 2022-06-25 with total page 352 pages. Available in PDF, EPUB and Kindle. Book excerpt: This volume provides practical guidance on a variety of techniques and steps to ensure successful variant calling. Chapters detail methods for variant calling from single-nucleotide variants to structural variants, variant calling in specialized data types such as RNA-seq and UMI-tagged sequencing, alignment-free genotyping and SNP calling, variant detection in single-cell DNA sequencing data, variant annotation, and preanalytical quality control to ensure successful variant calling. Written in the format of the highly successful Methods in Molecular Biology series, each chapter includes an introduction to the topic, lists step-by-step protocol to execute the algorithms, describes the input and output data, and includes tips on troubleshooting and known pitfalls. Authoritative and cutting-edge, Variant Calling: Methods and Protocols aims to be a foundation for future studies and to be a source of inspiration for new investigations in the field.
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
Download or read book Algorithms for Next Generation Sequencing Data written by Mourad Elloumi and published by Springer. This book was released on 2017-09-18 with total page 356 pages. Available in PDF, EPUB and Kindle. Book excerpt: The 14 contributed chapters in this book survey the most recent developments in high-performance algorithms for NGS data, offering fundamental insights and technical information specifically on indexing, compression and storage; error correction; alignment; and assembly. The book will be of value to researchers, practitioners and students engaged with bioinformatics, computer science, mathematics, statistics and life sciences.
Download or read book The Spruce Genome written by Ilga M. Porth and published by Springer. This book was released on 2021-08-16 with total page 218 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book offers comprehensive information on the genomics of spruces (Picea spp.), naturally abundant conifer tree species that are widely distributed in the Northern Hemisphere. Due to their tremendous ecological and economic importance, the management of forest genetic resources has chiefly focused on conservation and tree improvement. A draft genome sequence of the 20-gigabase Norway spruce genome was published in the journal Nature in 2013. Continuous efforts to improve the spruce genome assembly are underway, but are hindered by the inherent characteristics of conifer genomes: high amounts of repetitive sequences (introns and transposable elements) in the genome and large gene family expansions with regards to abiotic stress, secondary metabolism and spruces' defense responses to pathogens and herbivory. This book presents the latest information on the status of genome assemblies, provides detailed insights into transposable elements and methylation patterns, and highlights the extensive genomic resources available for inferring population genomics and climate adaptation, as well as emerging genomics tools for tree improvement programs. In addition, this volume features whole-genome comparisons among conifer species, and demonstrates how functional genomics can be used to improve gene function annotations. The book closes with an outlook on emerging fields of research in spruce genomics.
Download or read book Molecular Plant Breeding written by Yunbi Xu and published by CABI. This book was released on 2010 with total page 756 pages. Available in PDF, EPUB and Kindle. Book excerpt: Recent advances in plant genomics and molecular biology have revolutionized our understanding of plant genetics, providing new opportunities for more efficient and controllable plant breeding. Successful techniques require a solid understanding of the underlying molecular biology as well as experience in applied plant breeding. Bridging the gap between developments in biotechnology and its applications in plant improvement, Molecular Plant Breeding provides an integrative overview of issues from basic theories to their applications to crop improvement including molecular marker technology, gene mapping, genetic transformation, quantitative genetics, and breeding methodology.
Download or read book Computational Exome and Genome Analysis written by Peter N. Robinson and published by CRC Press. This book was released on 2017-09-13 with total page 575 pages. Available in PDF, EPUB and Kindle. Book excerpt: Exome and genome sequencing are revolutionizing medical research and diagnostics, but the computational analysis of the data has become an extremely heterogeneous and often challenging area of bioinformatics. Computational Exome and Genome Analysis provides a practical introduction to all of the major areas in the field, enabling readers to develop a comprehensive understanding of the sequencing process and the entire computational analysis pipeline.
Download or read book Genome Scale Algorithm Design written by Veli Mäkinen and published by Cambridge University Press. This book was released on 2023-10-12 with total page 470 pages. Available in PDF, EPUB and Kindle. Book excerpt: Guided by standard bioscience workflows in high-throughput sequencing analysis, this book for graduate students, researchers, and professionals in bioinformatics and computer science offers a unified presentation of genome-scale algorithms. This new edition covers the use of minimizers and other advanced data structures in pangenomics approaches.
Download or read book An Evidence Framework for Genetic Testing written by National Academies of Sciences, Engineering, and Medicine and published by National Academies Press. This book was released on 2017-04-21 with total page 149 pages. Available in PDF, EPUB and Kindle. Book excerpt: Advances in genetics and genomics are transforming medical practice, resulting in a dramatic growth of genetic testing in the health care system. The rapid development of new technologies, however, has also brought challenges, including the need for rigorous evaluation of the validity and utility of genetic tests, questions regarding the best ways to incorporate them into medical practice, and how to weigh their cost against potential short- and long-term benefits. As the availability of genetic tests increases so do concerns about the achievement of meaningful improvements in clinical outcomes, costs of testing, and the potential for accentuating medical care inequality. Given the rapid pace in the development of genetic tests and new testing technologies, An Evidence Framework for Genetic Testing seeks to advance the development of an adequate evidence base for genetic tests to improve patient care and treatment. Additionally, this report recommends a framework for decision-making regarding the use of genetic tests in clinical care.
Download or read book Biological Sequence Analysis written by Richard Durbin and published by Cambridge University Press. This book was released on 1998-04-23 with total page 372 pages. Available in PDF, EPUB and Kindle. Book excerpt: Probabilistic models are becoming increasingly important in analysing the huge amount of data being produced by large-scale DNA-sequencing efforts such as the Human Genome Project. For example, hidden Markov models are used for analysing biological sequences, linguistic-grammar-based probabilistic models for identifying RNA secondary structure, and probabilistic evolutionary models for inferring phylogenies of sequences from different organisms. This book gives a unified, up-to-date and self-contained account, with a Bayesian slant, of such methods, and more generally to probabilistic methods of sequence analysis. Written by an interdisciplinary team of authors, it aims to be accessible to molecular biologists, computer scientists, and mathematicians with no formal knowledge of the other fields, and at the same time present the state-of-the-art in this new and highly important field.
Download or read book Variant written by Robison Wells and published by Harper Collins. This book was released on 2011-10-04 with total page 206 pages. Available in PDF, EPUB and Kindle. Book excerpt: Benson Fisher thought that a scholarship to Maxfield Academy would be the ticket out of his dead-end life. He was wrong. Now he’s trapped in a school that’s surrounded by a razor-wire fence. A school where video cameras monitor his every move. Where there are no adults. Where the kids have split into groups in order to survive. Where breaking the rules equals death. But when Benson stumbles upon the school’s real secret, he realizes that playing by the rules could spell a fate worse than death, and that escape—his only real hope for survival—may be impossible.
Download or read book Virus Bioinformatics written by Manja Marz and published by MDPI. This book was released on 2020-02-21 with total page 330 pages. Available in PDF, EPUB and Kindle. Book excerpt: Virus bioinformatics is evolving and succeeding as an area of research in its own right, representing the interface of virology and computer science. Bioinformatic approaches to investigate viral infections and outbreaks have become central to virology research, and have been successfully used to detect, control, and treat infections of humans and animals. As part of the Third Annual Meeting of the European Virus Bioinformatics Center (EVBC), we have published this Special Issue on Virus Bioinformatics.
Download or read book Current Protocols in Bioinformatics written by Andreas D. Baxevanis and published by Current Protocols. This book was released on 2003 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Current Protocols in Bioinformatics is the only publication that responds to the need for both a current and updateable source of bioinformatics methodology. This unique publication assures that you have access to a full range of bioinformatics protocols written by globally-recognized experts in the field, and that these proto-cols are updated and revised as new developments and innovations occur.
Download or read book Systems Genetics written by Klaus Schughart and published by Humana. This book was released on 2016-12-08 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: This volume focuses on the use of system genetic methods and the use of murine models to study the role of gene variants and environmental factors on human health and disease—what is now often called personalized or precision health care. The protocols in this book will help readers analyze genetic causes of heritable variation across a wide range of systems and traits using rodent models. The chapters in this book are separated into three sections that cover: 1) resources for systems genetics; 2) tools for analysis and integration in systems genetics; and 3) systems genetics use cases. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and tools, step-by-step, readily reproducible protocols, and tips on troubleshooting and avoiding known pitfalls. Practical and thorough, Systems Genetics: Methods and Protocols is a valuable resource for anyone who is interested in this diverse field.
Download or read book Genomics and Bioinformatics written by Tore Samuelsson and published by Cambridge University Press. This book was released on 2012-06-07 with total page 357 pages. Available in PDF, EPUB and Kindle. Book excerpt: With the arrival of genomics and genome sequencing projects, biology has been transformed into an incredibly data-rich science. The vast amount of information generated has made computational analysis critical and has increased demand for skilled bioinformaticians. Designed for biologists without previous programming experience, this textbook provides a hands-on introduction to Unix, Perl and other tools used in sequence bioinformatics. Relevant biological topics are used throughout the book and are combined with practical bioinformatics examples, leading students through the process from biological problem to computational solution. All of the Perl scripts, sequence and database files used in the book are available for download at the accompanying website, allowing the reader to easily follow each example using their own computer. Programming examples are kept at an introductory level, avoiding complex mathematics that students often find daunting. The book demonstrates that even simple programs can provide powerful solutions to many complex bioinformatics problems.
Download or read book Algorithms in Bioinformatics written by Raffaele Giancarlo and published by Springer. This book was released on 2007-08-24 with total page 443 pages. Available in PDF, EPUB and Kindle. Book excerpt: The refereed proceedings from the 7th International Workshop on Algorithms in Bioinformatics are provided in this volume. Papers address current issues in algorithms in bioinformatics, ranging from mathematical tools to experimental studies of approximation algorithms to significant computational analyses. Biological problems examined include genetic mapping, sequence alignment and analysis, phylogeny, comparative genomics, and protein structure.
Download or read book Copy Number Variants written by Derek M. Bickhart and published by Humana Press. This book was released on 2018-07-24 with total page 206 pages. Available in PDF, EPUB and Kindle. Book excerpt: This volume offers detailed step-by-step instructions to allow beginners and experts alike to run appropriate copy number variants (CNV) detection software on a dataset of choice and discern between false positive noise and true positive CNV signals. Chapters guide readers through single nucleotide polymorphism (SNP) chips, optical mapping assembly techniques, and current open-source programs specializing in CNV detection. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Authoritative and cutting-edge, Copy Number Variants: Methods and Protocols aims to provide guidance to Bioinformaticians and Molecular Biologists who are interested in identifying copy number variants (CNV) with a wide variety of experimental media
Download or read book Applied Genomics and Public Health written by George P. Patrinos and published by Academic Press. This book was released on 2019-11-13 with total page 406 pages. Available in PDF, EPUB and Kindle. Book excerpt: Applied Genomics and Public Health examines the interdisciplinary and growing area of how evidence-based genomic knowledge can be applied to public health, population health, healthcare and health policies. The book gathers experts from a variety of disciplines, including life sciences, social sciences, and health care to develop a comprehensive overview of the field. In addition, the book delves into subjects such as pharmacogenomics, genethics, big data, data translation and analysis, economic evaluation, genomic awareness and education, sociology, pricing and reimbursement, policy measures and economic evaluation in genomic medicine. This book is essential reading for researchers and students exploring applications of genomics to population and public health. In addition, it is ideal for those in the biomedical sciences, medical sociologists, healthcare professionals, nurses, regulatory bodies and health economists interested in learning more about this growing field. - Explores the growing application of genomics to population and public health - Features internationally renowned contributors from a variety of related fields - Contains chapters on important topics such as genomic data sharing, genethics and public health genomics, genomics and sociology, and regulatory aspects of genomic medicine and pharmacogenomics
