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 355 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 Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders written by Lee-Jun C. Wong and published by Springer. This book was released on 2017-05-15 with total page 364 pages. Available in PDF, EPUB and Kindle. Book excerpt: Next Generation Sequencing technology has been applied to clinical diagnoses in the past three to five years using various approaches, including target gene panels and whole exomes. The purpose of this book is to summarize the experiences, the results, advantages and disadvantages, along with future development in the area of NGS-based molecular diagnosis. This up-to-date volume will not only provide the readers working with Next Generation Sequencing the basics on how to apply the technology to molecular diagnosis, but will present the results and experience of practical application.

Download or read book Computational Methods for Precision Oncology written by Alessandro Laganà and published by Springer Nature. This book was released on 2022-03-01 with total page 341 pages. Available in PDF, EPUB and Kindle. Book excerpt: Precision medicine holds great promise for the treatment of cancer and represents a unique opportunity for accelerated development and application of novel and repurposed therapeutic approaches. Current studies and clinical trials demonstrate the benefits of genomic profiling for patients whose cancer is driven by specific, targetable alterations. However, precision oncologists continue to be challenged by the widespread heterogeneity of cancer genomes and drug responses in designing personalized treatments. Chapters provide a comprehensive overview of the computational approaches, methods, and tools that enable precision oncology, as well as related biological concepts. Covered topics include genome sequencing, the architecture of a precision oncology workflow, and introduces cutting-edge research topics in the field of precision oncology. This book is intended for computational biologists, bioinformaticians, biostatisticians and computational pathologists working in precision oncology and related fields, including cancer genomics, systems biology, and immuno-oncology.

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 Genome wide association studies and genomic selection for crop improvement in the era of big data written by Nunzio D’Agostino and published by Frontiers Media SA. This book was released on 2023-05-05 with total page 192 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book Genomic Medicine written by Laura J. Tafe and published by Springer Nature. This book was released on 2019-09-26 with total page 325 pages. Available in PDF, EPUB and Kindle. Book excerpt: The field of Molecular Diagnostics is rapidly evolving and molecular characterization of neoplasms is becoming an increasingly important part of the pathologic work up and diagnosis of many tumor types. This work provides a high-yield reference book that compiles critical information related to molecular biomarkers for various solid tumor and hematologic malignancy subtypes. It is succinct yet comprehensive enough to be suitable for fellows in training and medical professionals with an interest in molecular pathology and biomarkers. The book covers many aspects of molecular diagnostics, from techniques to applications and comprehensive summaries of the current molecular biomarkers of critical importance in solid and liquid tumors. Attention is also specifi cally devoted to bioinformatics and next generation sequencing, as well as pre-analytical issues that must be considered for accurate interpretation of molecular results in the context of overall patient care. This text focuses on clinical utility and validity and serves as an “owner’s manual” in Genomic Diagnostics for the practicing pathologist, pathology fellows and residents and other health care providers. Physicians will find this book invaluable as a quick reference for current molecular testing modalities and guidelines, tumor board preparation, deciding which test to order and interpreting genomic laboratory results. In addition, it is an accessible for trainees as a board review preparation reference.

Download or read book Systems Medicine written by and published by Academic Press. This book was released on 2020-08-24 with total page 1571 pages. Available in PDF, EPUB and Kindle. Book excerpt: Technological advances in generated molecular and cell biological data are transforming biomedical research. Sequencing, multi-omics and imaging technologies are likely to have deep impact on the future of medical practice. In parallel to technological developments, methodologies to gather, integrate, visualize and analyze heterogeneous and large-scale data sets are needed to develop new approaches for diagnosis, prognosis and therapy. Systems Medicine: Integrative, Qualitative and Computational Approaches is an innovative, interdisciplinary and integrative approach that extends the concept of systems biology and the unprecedented insights that computational methods and mathematical modeling offer of the interactions and network behavior of complex biological systems, to novel clinically relevant applications for the design of more successful prognostic, diagnostic and therapeutic approaches. This 3 volume work features 132 entries from renowned experts in the fields and covers the tools, methods, algorithms and data analysis workflows used for integrating and analyzing multi-dimensional data routinely generated in clinical settings with the aim of providing medical practitioners with robust clinical decision support systems. Importantly the work delves into the applications of systems medicine in areas such as tumor systems biology, metabolic and cardiovascular diseases as well as immunology and infectious diseases amongst others. This is a fundamental resource for biomedical students and researchers as well as medical practitioners who need to need to adopt advances in computational tools and methods into the clinical practice. Encyclopedic coverage: ‘one-stop’ resource for access to information written by world-leading scholars in the field of Systems Biology and Systems Medicine, with easy cross-referencing of related articles to promote understanding and further research Authoritative: the whole work is authored and edited by recognized experts in the field, with a range of different expertise, ensuring a high quality standard Digitally innovative: Hyperlinked references and further readings, cross-references and diagrams/images will allow readers to easily navigate a wealth of information

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 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 518 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 Advances in the Understanding of Biological Sciences Using Next Generation Sequencing NGS Approaches written by Gaurav Sablok and published by Springer. This book was released on 2015-07-16 with total page 241 pages. Available in PDF, EPUB and Kindle. Book excerpt: Provides a global view of the recent advances in the biological sciences and the adaption of the pathogen to the host plants revealed using NGS. Molecular Omic’s is now a major driving force to learn the adaption genetics and a great challenge to the scientific community, which can be resolved through the application of the NGS technologies. The availability of complete genome sequences, the respective model species for dicot and monocot plant groups, presents a global opportunity to delineate the identification, function and the expression of the genes, to develop new tools for the identification of the new genes and pathway identification. Genome-wide research tools, resources and approaches such as data mining for structural similarities, gene expression profiling at the DNA and RNA level with rapid increase in available genome sequencing efforts, expressed sequence tags (ESTs), RNA-seq, gene expression profiling, induced deletion mutants and insertional mutants, and gene expression knock-down (gene silencing) studies with RNAi and microRNAs have become integral parts of plant molecular omic’s. Molecular diversity and mutational approaches present the first line of approach to unravel the genetic and molecular basis for several traits, QTL related to disease resistance, which includes host approaches to combat the pathogens and to understand the adaptation of the pathogen to the plant host. Using NGS technologies, understanding of adaptation genetics towards stress tolerance has been correlated to the epigenetics. Naturally occurring allelic variations, genome shuffling and variations induced by chemical or radiation mutagenesis are also being used in functional genomics to elucidate the pathway for the pathogen and stress tolerance and is widely illustrated in demonstrating the identification of the genes responsible for tolerance in plants, bacterial and fungal species.

Download or read book Bioinformatics written by Hamid D. Ismail and published by CRC Press. This book was released on 2023-06-29 with total page 349 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book contains the latest material in the subject, covering next generation sequencing (NGS) applications and meeting the requirements of a complete semester course. This book digs deep into analysis, providing both concept and practice to satisfy the exact need of researchers seeking to understand and use NGS data reprocessing, genome assembly, variant discovery, gene profiling, epigenetics, and metagenomics. The book does not introduce the analysis pipelines in a black box, but with detailed analysis steps to provide readers with the scientific and technical backgrounds required to enable them to conduct analysis with confidence and understanding. The book is primarily designed as a companion for researchers and graduate students using sequencing data analysis but will also serve as a textbook for teachers and students in biology and bioscience.

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

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

Download or read book Computational Genomics and structural Bioinformatics in Microbial Science written by Mohammed Kuddus and published by Frontiers Media SA. This book was released on 2022-03-09 with total page 127 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book Bioinformatics and Biomedical Engineering written by Ignacio Rojas and published by Springer Nature. This book was released on 2023-06-28 with total page 520 pages. Available in PDF, EPUB and Kindle. Book excerpt: This volume constitutes the proceedings of the 10th International Work-Conference on IWBBIO 2023, held in Meloneras, Gran Canaria, Spain, during July 12-14, 2022. The total of 79 papers presented in the proceedings, was carefully reviewed and selected from 209 submissions. The papers cove the latest ideas and realizations in the foundations, theory, models, and applications for interdisciplinary and multidisciplinary research encompassing disciplines of computer science, mathematics, statistics, biology, bioinformatics, and biomedicine.