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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. ​
Latest generation sequencing revolutionizes the fields of cancer research and oncology. This follow-up volume focuses more extensively on single cell sequencing of cancer and trials in drug resistance. Another exciting feature is the bioinformatics tools given, that can be used on cancer genome studies. Scientists around the world are attempting to find the root cause of cancer. A reasonable cancer treatment plan and potential cure is more optimistic now with the unfolding of the cancer genome. The collective knowledge of how to leverage next generation sequencing in cancer research is paving the way. The important information provided in this volume will move the field forward in developing novel targeted cancer therapies.
High-throughput, next generation sequencing (NGS) technologies are capable of producing a huge amount of sequence data in a relatively short time and have revolutionized genome research in recent years. The powerful and flexible nature of NGS has made it an indispensable tool for a broad spectrum of biological sciences, and NGS technologies have transformed scientific research in many fields. Written by experts from around the world, this book explores the most recent advances in NGS instrumentation and data analysis. The book begins with a comprehensive description of current NGS platforms, their sequencing chemistries, instrument specifications, and general workflows and procedures. A separate chapter is dedicated to low-quantity, single molecule sequencing technology. Further chapters explore the application of NGS technologies in various fields, including polymorphism detection, sRNA research, rare variant detection, large variant detection, exome sequencing, plant development studies, microbial metagenomics, and studies on the human microbiome. Practical and cutting-edge, this volume will assist all scientists who wish to apply these innovative research tools.
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.​
Tag-based approaches were originally designed to increase the throughput of capillary sequencing, where concatemers of short sequences were first used in expression profiling. New Next Generation Sequencing methods largely extended the use of tag-based approaches as the tag lengths perfectly match with the short read length of highly parallel sequencing reactions. Tag-based approaches will maintain their important role in life and biomedical science, because longer read lengths are often not required to obtain meaningful data for many applications. Whereas genome re-sequencing and de novo sequencing will benefit from ever more powerful sequencing methods, analytical applications can be performed by tag-based approaches, where the focus shifts from 'sequencing power' to better means of data analysis and visualization for common users. Today Next Generation Sequence data require powerful bioinformatics expertise that has to be converted into easy-to-use data analysis tools. The book's intention is to give an overview on recently developed tag-based approaches along with means of their data analysis together with introductions to Next-Generation Sequencing Methods, protocols and user guides to be an entry for scientists to tag-based approaches for Next Generation Sequencing.
This landmark annual review has provided three decades of knowledge, insight, and research on topics critical to the continued advancement of the nursing profession. This latest edition is a compilation of the most significant nursing research in genetics and genomics. Articles have been carefully selected by the editors, highly respected scholars and researchers in the field of genetics, to bring together current research that has particular relevance for translation into a clinical setting or expansion into other research areas. The review provides authoritative information of the highest caliber not only to researchers, but also to clinicians and undergraduate and graduate nursing students. Key Topics: The current status of genomic molecular science Ethical, legal, and social issues in genomics Genetics of diseases and symptoms Genomics across the lifespan
The National Clinical Trials Network (NCTN) supported by the National Cancer Institute (NCI) has played an integral role in cancer research and in establishing the standard of care for cancer patients for more than 50 years. Formerly known as the NCI Clinical Trials Cooperative Group Program, the NCTN is comprised of more than 2,100 institutions and 14,000 investigators, who enroll more than 20,000 cancer patients in clinical trials each year across the United States and internationally. Recognizing the recent transformative advances in cancer research that necessitate modernization in how cancer clinical trials are run, as well as inefficiencies and other challenges impeding the national cancer clinical trials program, the NCI asked the IOM to develop a set of recommendations to improve the federally funded cancer clinical trials system. These recommendations were published in the 2010 report, A National Cancer Clinical Trials System for the 21st Century: Reinvigorating the NCI Cooperative Group Program. In early 2011, the NCPF and the American Society of Clinical Oncology (ASCO) held a workshop in which stakeholders discussed the changes they planned to implement in response to the IOM goals and recommendations. Two years later, on February 11-12, 2013, in Washington, DC, the NCPF and ASCO reconvened stakeholders to report on the changes they have made thus far to address the IOM recommendations. At this workshop, representatives from the NCI, the NCTN, comprehensive cancer centers, patient advocacy groups, the Food and Drug Administration (FDA), industry, and other stakeholders highlighted the progress that has been made in achieving the goals for a reinvigorated national cancer clinical trials system. Implementing a National Cancer Clinical Trials System for the 21st Century is a summary of that workshop.

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