Variant Calling
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Variant Calling
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Author : Charlotte Ng
language : en
Publisher: Springer Nature
Release Date : 2022-06-25
Variant Calling written by Charlotte Ng and has been published by Springer Nature this book supported file pdf, txt, epub, kindle and other format this book has been release on 2022-06-25 with Science categories.
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.
Structural Variant Calling Using Third Generation Sequencing Data
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Author : David Heller
language : en
Publisher:
Release Date : 2020
Structural Variant Calling Using Third Generation Sequencing Data written by David Heller and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2020 with categories.
Genomics In The Cloud
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Author : Geraldine A. Van der Auwera
language : en
Publisher: O'Reilly Media
Release Date : 2020-04-02
Genomics In The Cloud written by Geraldine A. Van der Auwera and has been published by O'Reilly Media this book supported file pdf, txt, epub, kindle and other format this book has been release on 2020-04-02 with Computers categories.
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
Nanopore Long Read Variant Calling
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Author : 鄭鎮賢
language : en
Publisher:
Release Date : 2023
Nanopore Long Read Variant Calling written by 鄭鎮賢 and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2023 with Nanopores categories.
Next Generation Sequencing Based Clinical Molecular Diagnosis Of Human Genetic Disorders
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Author : Lee-Jun C. Wong
language : en
Publisher: Springer
Release Date : 2017-05-15
Next Generation Sequencing Based Clinical Molecular Diagnosis Of Human Genetic Disorders written by Lee-Jun C. Wong and has been published by Springer this book supported file pdf, txt, epub, kindle and other format this book has been release on 2017-05-15 with Science categories.
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.
Computational Methods For Precision Oncology
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Author : Alessandro Laganà
language : en
Publisher: Springer Nature
Release Date : 2022-03-01
Computational Methods For Precision Oncology written by Alessandro Laganà and has been published by Springer Nature this book supported file pdf, txt, epub, kindle and other format this book has been release on 2022-03-01 with Medical categories.
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.
Genome Wide Association Studies And Genomic Selection For Crop Improvement In The Era Of Big Data
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Author : Nunzio D’Agostino
language : en
Publisher: Frontiers Media SA
Release Date : 2023-05-05
Genome Wide Association Studies And Genomic Selection For Crop Improvement In The Era Of Big Data written by Nunzio D’Agostino and has been published by Frontiers Media SA this book supported file pdf, txt, epub, kindle and other format this book has been release on 2023-05-05 with Science categories.
Genomic Medicine
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Author : Laura J. Tafe
language : en
Publisher: Springer Nature
Release Date : 2019-09-26
Genomic Medicine written by Laura J. Tafe and has been published by Springer Nature this book supported file pdf, txt, epub, kindle and other format this book has been release on 2019-09-26 with Medical categories.
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.
Systems Medicine
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Author :
language : en
Publisher: Academic Press
Release Date : 2020-08-24
Systems Medicine written by and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2020-08-24 with Science categories.
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
Computational Exome And Genome Analysis
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Author : Peter N. Robinson
language : en
Publisher: CRC Press
Release Date : 2017-09-13
Computational Exome And Genome Analysis written by Peter N. Robinson and has been published by CRC Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2017-09-13 with Computers categories.
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.