Next Generation Sequencing Technologies In Medical Genetics
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Next Generation Sequencing Technologies In Medical Genetics
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Author : C. Alexander Valencia
language : en
Publisher: Springer Science & Business Media
Release Date : 2013-10-16
Next Generation Sequencing Technologies In Medical Genetics written by C. Alexander Valencia and has been published by Springer Science & Business Media this book supported file pdf, txt, epub, kindle and other format this book has been release on 2013-10-16 with Medical categories.
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.
Clinical Applications For Next Generation Sequencing
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Author : Urszula Demkow
language : en
Publisher: Academic Press
Release Date : 2015-09-10
Clinical Applications For Next Generation Sequencing written by Urszula Demkow and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2015-09-10 with Science categories.
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
Next Generation Sequencing
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Author : Lee-Jun C. Wong
language : en
Publisher: Springer Science & Business Media
Release Date : 2013-05-31
Next Generation Sequencing written by Lee-Jun C. Wong and has been published by Springer Science & Business Media this book supported file pdf, txt, epub, kindle and other format this book has been release on 2013-05-31 with Medical categories.
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.
Next Generation Sequencing
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Author : Jerzy Kulski
language : en
Publisher: BoD – Books on Demand
Release Date : 2016-01-14
Next Generation Sequencing written by Jerzy Kulski and has been published by BoD – Books on Demand this book supported file pdf, txt, epub, kindle and other format this book has been release on 2016-01-14 with Medical categories.
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.
Medical And Health Genomics
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Author : Dhavendra Kumar
language : en
Publisher: Academic Press
Release Date : 2016-06-04
Medical And Health Genomics written by Dhavendra Kumar and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2016-06-04 with Science categories.
Medical and Health Genomics provides concise and evidence-based technical and practical information on the applied and translational aspects of genome sciences and the technologies related to non-clinical medicine and public health. Coverage is based on evolving paradigms of genomic medicine—in particular, the relation to public and population health genomics now being rapidly incorporated in health management and administration, with further implications for clinical population and disease management. - Provides extensive coverage of the emergent field of health genomics and its huge relevance to healthcare management - Presents user-friendly language accompanied by explanatory diagrams, figures, and many references for further study - Covers the applied, but non-clinical, sciences across disease discovery, genetic analysis, genetic screening, and prevention and management - Details the impact of clinical genomics across a diverse array of public and community health issues, and within a variety of global healthcare systems
Applications Of Rna Seq And Omics Strategies
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Author : Fabio Marchi
language : en
Publisher: BoD – Books on Demand
Release Date : 2017-09-13
Applications Of Rna Seq And Omics Strategies written by Fabio Marchi and has been published by BoD – Books on Demand this book supported file pdf, txt, epub, kindle and other format this book has been release on 2017-09-13 with Medical categories.
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.
Genotyping
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Author : Ibrokhim Y. Abdurakhmonov
language : en
Publisher: Intechopen
Release Date : 2018
Genotyping written by Ibrokhim Y. Abdurakhmonov and has been published by Intechopen this book supported file pdf, txt, epub, kindle and other format this book has been release on 2018 with Science categories.
A rare norovirus (NoV) genotype GII.17 has recently emerged and rapidly became predominant in most East Asian countries in the winters of 2014-2015. In this study, we report the diversity of NoV GII.17 in detail; a total of 646 GII.17 sequences obtained during 1978-2015 were analyzed and subjected to meta-analysis. At least five major recombinant GII.17 clusters were identified. Each recombinant variant group appeared to have emerged following the time order: GII.P4-GII.17 (1978-1990), GII.P16-GII.17 (2001-2004), GII.P13-GII.17 (2004-2010), GII.Pe-GII.17 (2012-2015) and GII.P3-GII.17 (2011-2015). The newly emerged GII.P3-GII.17 variant, which exhibited significant sequence and structure variations, is evolving toward a unique lineage. Our results indicate that circulation of GII.17 appears to change every 3-5 years due to replacement by a newly emerged variant and that the evolution of GII.17 is sequentially promoted by inter-genotype recombination, which contributes to the exchange between non-GII.17 and GII.17 RdRp genes and drives the evolution of GII.17 capsid genes.
Nucleic Acid Sequencing Methods In Diagnostic Laboratory Medicine
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Author : Thomas J. Lenk
language : en
Publisher:
Release Date : 2014
Nucleic Acid Sequencing Methods In Diagnostic Laboratory Medicine written by Thomas J. Lenk and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2014 with Diagnosis, Laboratory categories.
Omics Technologies For Clinical Diagnosis And Gene Therapy Medical Applications In Human Genetics
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Author : Syeda Marriam Bakhtiar
language : en
Publisher: Bentham Science Publishers
Release Date : 2022-10-03
Omics Technologies For Clinical Diagnosis And Gene Therapy Medical Applications In Human Genetics written by Syeda Marriam Bakhtiar and has been published by Bentham Science Publishers this book supported file pdf, txt, epub, kindle and other format this book has been release on 2022-10-03 with Medical categories.
Genetic disorders have been the focus of scientists for a long time. The emergence of next-generation sequencing techniques has ushered a new era in genetics and several developments have occurred in human genetics. The scientific perspective has also been widened with omics technologies that allow researchers to analyze genetic sequences and their expression products. An integrated approach is being used not only for diagnosis but also for disease management and therapeutic purposes. This book highlights emerging areas of omics technology and its application in the diagnosis and management of human genetic disorders. The book covers three areas of research and implementation: 1) Diagnosis (covering conventional strategies to next-generation platforms). This section focuses on the role of in silico analysis, databases and multi-omics of single-cell which will help in designing better management strategies. 2) Disease Management and therapeutic interventions. This section starts with genetic counselling and progresses to more specific techniques such as pharmacogenomics and personalized medicine, gene editing techniques and their applications in gene therapies and regenerative medicine. 3) Case studies. This section discusses the applications and success of all the above-mentioned strategies on selected human disorders. This book serves as a handy reference for students and academics studying advanced omics techniques in biochemistry and molecular genetics as part of courses in life sciences, pharmacology and medicine.
Psychological Support By Cognitive Behavioral Therapy For Hemophilia
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Author : Edenilson Brandl
language : en
Publisher: Edenilson Brandl
Release Date :
Psychological Support By Cognitive Behavioral Therapy For Hemophilia written by Edenilson Brandl and has been published by Edenilson Brandl this book supported file pdf, txt, epub, kindle and other format this book has been release on with Psychology categories.
Living with a chronic condition like hemophilia is not just a physical challenge; it impacts every aspect of life—emotional, psychological, and social. Hemophilia, a genetic disorder affecting the blood’s ability to clot properly, requires individuals to navigate a complex web of medical treatments, lifestyle adjustments, and emotional hurdles. For many, the weight of managing a genetic condition can lead to feelings of isolation, anxiety, and depression. This book, "Psychological Support by Cognitive Behavioral Therapy for Hemophilia," was written with the purpose of providing a comprehensive approach to address not only the physical but also the psychological aspects of living with hemophilia. By merging insights from genetics, biology, and psychology, particularly through the lens of Cognitive Behavioral Therapy (CBT), this book seeks to empower individuals with hemophilia to develop coping strategies, manage emotional distress, and lead fulfilling lives despite their condition. Cognitive Behavioral Therapy has been widely recognized as an effective therapeutic approach for managing a variety of mental health challenges, and it offers valuable tools for those grappling with the emotional and psychological burdens of chronic illness. This book covers essential topics such as trauma, genetic counseling, independence in one’s genetic journey, and the practical application of CBT techniques. By addressing both the biological underpinnings of hemophilia and the cognitive and emotional toll it takes, this book aims to create a balanced and supportive guide for patients, caregivers, and mental health professionals alike. In the chapters that follow, we explore the intricate connection between mind and body, offering both theoretical knowledge and practical tools to manage the emotional impact of hemophilia. From learning how to manage pain and fatigue, to developing strategies for mental resilience and emotional regulation, this book is designed to be a go-to resource for anyone affected by hemophilia. It is my hope that this book provides a source of comfort, guidance, and empowerment to those living with hemophilia, helping them to navigate their journey with greater confidence, mental fortitude, and emotional well-being.