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

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.

Next generation sequencing (NGS) has surpassed the traditional Sanger sequencing method to become the main choice for large-scale, genome-wide sequencing studies with ultra-high-throughput production and a huge reduction in costs. The NGS technologies have had enormous impact on the studies of structural and functional genomics in all the life sciences. In this book, Next Generation Sequencing Advances, Applications and Challenges, the sixteen chapters written by experts cover various aspects of NGS including genomics, transcriptomics and methylomics, the sequencing platforms, and the bioinformatics challenges in processing and analysing huge amounts of sequencing data. Following an overview of the evolution of NGS in the brave new world of omics, the book examines the advances and challenges of NGS applications in basic and applied research on microorganisms, agricultural plants and humans. This book is of value to all who are interested in DNA sequencing and bioinformatics across all fields of the life sciences.

Translational bioinformatics (TBI) involves development of storage, analytics, and advanced computational methods to harvest knowledge from voluminous biomedical and genomic data into 4P healthcare (proactive, predictive, preventive, and participatory). Translational Bioinformatics Applications in Healthcare offers a detailed overview on concepts of TBI, biological and clinical databases, clinical informatics, and pertinent real-case applications. It further illustrates recent advancements, tools, techniques, and applications of TBI in healthcare, including Internet of Things (IoT) potential, toxin databases, medical image analysis and telemedicine applications, analytics of COVID-19 CT images, viroinformatics and viral diseases, and COVID-19–related research. Covers recent technologies such as Blockchain, IoT, and Big data analytics in bioinformatics Presents the role of translational bioinformatic methods in the field of viroinformatics, as well as in drug development and repurposing Includes translational healthcare and NGS for clinical applications Illustrates translational medicine systems and their applications in better healthcare Explores medical image analysis with focus on CT images and novel coronavirus disease detection Aimed at researchers and graduate students in computational biology, data mining and knowledge discovery, algorithms and complexity, and interdisciplinary fields of studies, including bioinformatics, health-informatics, biostatistics, biomedical engineering, and viroinformatics. Khalid Raza is an Assistant Professor, the Department of Computer Science, Jamia Millia Islamia (Central University), New Delhi. His research interests include translational bioinformatics, computational intelligence methods and its applications in bioinformatics, viroinformatics, and health informatics. Nilanjan Dey is an Associate Professor, the Department of Computer Science and Engineering, JIS University, Kolkata, India. His research interests include medical imaging, machine learning, computer-aided diagnosis, and data mining.

In recent years, owing to the fast development of a variety of sequencing technologies in the post human genome project era, sequencing analysis of a group of target genes, entire protein coding regions of the human genome, and the whole human genome has become a reality. Next Generation Sequencing (NGS) or Massively Parallel Sequencing (MPS) technologies offers a way to screen for mutations in many different genes in a cost and time efficient manner by deep coverage of the target sequences. This novel technology has now been applied to clinical diagnosis of Mendelian disorders of well characterized or undefined diseases, discovery of new disease genes, noninvasive prenatal diagnosis using maternal blood, and population based carrier testing of severe autosomal recessive disorders. This book covers topics of these applications, including potential limitations and expanded application in the future. ​

Genomic sequencing technologies have augmented the classification of cancer beyond tissue of origin and towards a molecular taxonomy of cancer. This has created opportunities to guide treatment decisions for individual patients with cancer based on their cancer’s unique molecular characteristics, also known as precision cancer medicine. The purpose of this text will be to describe the contribution and need for multiple disciplines working together to deliver precision cancer medicine. This entails a multi-disciplinary approach across fields including molecular pathology, computational biology, clinical oncology, cancer biology, drug development, genetics, immunology, and bioethics. Thus, we have outlined a current text on each of these fields as they work together to overcome various challenges and create opportunities to deliver precision cancer medicine. As trainees and junior faculty enter their respective fields, this text will provide a framework for understanding the role and responsibility for each specialist to contribute to this team science approach.

A Practical Guide to the Highly Dynamic Area of Massively Parallel SequencingThe development of genome and transcriptome sequencing technologies has led to a paradigm shift in life science research and disease diagnosis and prevention. Scientists are now able to see how human diseases and phenotypic changes are connected to DNA mutation, polymorphi

This book introduces readers to Next Generation Sequencing applications in medical genetics. The authors discuss the direct application of next-generation sequencing to medicine, specifically, laboratory medicine or molecular diagnostics. The first part of the book contains chapters on sanger sequencing, NGS technologies, targeted-amplification and capture, and exome sequencing. The second part of the book focuses on genetic disorders diagnoses by NGS, prenatal diagnosis, muscular dystrophies, mitochondrial disorders diagnosis, and challenges in molecular diagnosis. Recent developments and potential future trends in NGS sequencing applications are highlighted, as well.​

The large potential of RNA sequencing and other "omics" techniques has contributed to the production of a huge amount of data pursuing to answer many different questions that surround the science's great unknowns. This book presents an overview about powerful and cost-efficient methods for a comprehensive analysis of RNA-Seq data, introducing and revising advanced concepts in data analysis using the most current algorithms. A holistic view about the entire context where transcriptome is inserted is also discussed here encompassing biological areas with remarkable technological advances in the study of systems biology, from microorganisms to precision medicine.

This concise guide brings orthopaedic surgeons and paediatricians up to date with the latest developments in the management of bone and joint (osteoarticular) infections in children. Beginning with an introduction to the causes and development of osteoarticular disorders, the following chapters discuss their clinical features, laboratory diagnosis and treatment options, both surgical and conservative. Each chapter describes a different infection and its management, with a separate chapter examining drug-resistant osteoarticular tuberculosis and co-infection with HIV. The final section discusses advances and research in the condition. Key points Concise guide to the diagnosis and management of bone and joint infections in children Each chapter discusses a different infection and covers conservative and surgical treatment Final chapter describes new advances and research Includes more than 150 full colour images and illustrations