Next generation sequencing book free download






















Zhang, H. Cui, L. Yue, D. Froese, P. Shirai, T. Taniguchi, H. Parker, D. Domanski, A. Percy, A. Chambers, A. Camenzind, D. Smith, C. Ng, M. Wong, T. Hwu, Y. Chien, N. Lee, S. Wang, S. Chiang, L. The hematopoietic stem cells HSCs are clinically used in hematopoietic treatments for blood disorders and hemato-oncological diseases.

In the near future, these stem cells will have a crucial role in regenerative medicine. Written by leading experts from industry and academia, this first single comprehensive resource addresses recent developments in next generation DNA sequencing technology and their impact on genome research, drug discovery and health care. As such, it presents a detailed comparative analysis of commercially available platforms as well as insights into alternative, emerging sequencing techniques.

In addition, the book not only covers the principles of DNA sequencing techniques but also social, ethical and commercial aspects, the concept of personalized medicine and a five-year perspective of DNA sequencing. 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.

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.

Rapid technological developments have led to increasingly efficient sequencing approaches. Next Generation Sequencing NGS is increasingly common and has become cost-effective, generating an explosion of sequenced data that need to be analyzed. The skills required to apply computational analysis to target research on a wide range of applications that include identifying causes of cancer, vaccine design, new antibiotics, drug development, personalized medicine and higher crop yields in agriculture are highly sought after.

This invaluable book provides step-by-step guides to complex topics that make it easy for readers to perform essential analyses from raw sequenced data to answering important biological questions. It is an excellent hands-on material for teachers who conduct courses in bioinformatics and as a reference material for professionals. The chapters are written to be standalone recipes making it suitable for readers who wish to self-learn selected topics. Readers will gain skills necessary to work on sequenced data from NGS platforms and hence making themselves more attractive to employers who need skilled bioinformaticians to handle the deluge of data.

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. Introduces readers to core algorithmic techniques for next-generation sequencing NGS data analysis and discusses a wide range of computational techniques and applications This book provides an in-depth survey of some of the recent developments in NGS and discusses mathematical and computational challenges in various application areas of NGS technologies.

The 18 chapters featured in this book have been authored by bioinformatics experts and represent the latest work in leading labs actively contributing to the fast-growing field of NGS.

The book is divided into four parts: Part I focuses on computing and experimental infrastructure for NGS analysis, including chapters on cloud computing, modular pipelines for metabolic pathway reconstruction, pooling strategies for massive viral sequencing, and high-fidelity sequencing protocols. Part II concentrates on analysis of DNA sequencing data, covering the classic scaffolding problem, detection of genomic variants, including insertions and deletions, and analysis of DNA methylation sequencing data.

This part discusses algorithms and compares software tools for transcriptome assembly along with methods for detection of alternative splicing and tools for transcriptome quantification and differential expression analysis. Part IV explores computational tools for NGS applications in microbiomics, including a discussion on error correction of NGS reads from viral populations, methods for viral quasispecies reconstruction, and a survey of state-of-the-art methods and future trends in microbiome analysis.

Computational Methods for Next Generation Sequencing Data Analysis: Reviews computational techniques such as new combinatorial optimization methods, data structures, high performance computing, machine learning, and inference algorithms Discusses the mathematical and computational challenges in NGS technologies Covers NGS error correction, de novo genome transcriptome assembly, variant detection from NGS reads, and more This text is a reference for biomedical professionals interested in expanding their knowledge of computational techniques for NGS data analysis.

The book is also useful for graduate and post-graduate students in bioinformatics. Advances in sequencing technology have allowed scientists to study the human genome in greater depth and on a larger scale than ever before — as many as hundreds of millions of short reads in the course of a few days. 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.

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.

Download or read online Clinical Applications of Next generation Sequencing written by Linda Koch, published by Unknown which was released on Download or read online Clinical Applications of Next Generation Sequencing Technology written by Anonim, published by Unknown which was released on 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,. 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. 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. 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.



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