Clinical Applications For Next Generation Sequencing

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Clinical Applications for Next-Generation Sequencing

Urszula Demkow,Rafal Ploski

Author : Urszula Demkow,Rafal Ploski
Publisher : Academic Press
Page : 334 pages
File Size : 55,5 Mb
Release : 2015-09-10
Category : Science
ISBN : 9780128018415

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Clinical Applications for Next-Generation Sequencing by Urszula Demkow,Rafal Ploski Pdf

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

Lee-Jun C. Wong

Author : Lee-Jun C. Wong
Publisher : Springer Science & Business Media
Page : 302 pages
File Size : 43,8 Mb
Release : 2013-05-31
Category : Medical
ISBN : 9781461470014

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Next Generation Sequencing by Lee-Jun C. Wong Pdf

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.

Precision Cancer Medicine

Sameek Roychowdhury,Eliezer M. Van Allen

Author : Sameek Roychowdhury,Eliezer M. Van Allen
Publisher : Springer Nature
Page : 196 pages
File Size : 41,9 Mb
Release : 2020-01-02
Category : Medical
ISBN : 9783030236373

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Precision Cancer Medicine by Sameek Roychowdhury,Eliezer M. Van Allen Pdf

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.

P5 eHealth: An Agenda for the Health Technologies of the Future

Gabriella Pravettoni,Stefano Triberti

Author : Gabriella Pravettoni,Stefano Triberti
Publisher : Springer Nature
Page : 191 pages
File Size : 51,7 Mb
Release : 2019-11-29
Category : Psychology
ISBN : 9783030279943

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P5 eHealth: An Agenda for the Health Technologies of the Future by Gabriella Pravettoni,Stefano Triberti Pdf

This open access volume focuses on the development of a P5 eHealth, or better, a methodological resource for developing the health technologies of the future, based on patients’ personal characteristics and needs as the fundamental guidelines for design. It provides practical guidelines and evidence based examples on how to design, implement, use and elevate new technologies for healthcare to support the management of incurable, chronic conditions. The volume further discusses the criticalities of eHealth, why it is difficult to employ eHealth from an organizational point of view or why patients do not always accept the technology, and how eHealth interventions can be improved in the future. By dealing with the state-of-the-art in eHealth technologies, this volume is of great interest to researchers in the field of physical and mental healthcare, psychologists, stakeholders and policymakers as well as technology developers working in the healthcare sector.

Next Generation Sequencing

Jerzy Kulski

Author : Jerzy Kulski
Publisher : BoD – Books on Demand
Page : 466 pages
File Size : 53,5 Mb
Release : 2016-01-14
Category : Medical
ISBN : 9789535122401

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Next Generation Sequencing by Jerzy Kulski Pdf

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 Applications in Healthcare

Khalid Raza,Nilanjan Dey

Author : Khalid Raza,Nilanjan Dey
Publisher : CRC Press
Page : 211 pages
File Size : 42,8 Mb
Release : 2021-04-20
Category : Technology & Engineering
ISBN : 9781000375237

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Translational Bioinformatics Applications in Healthcare by Khalid Raza,Nilanjan Dey Pdf

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.

Clinical Genomics

Shashikant Kulkarni,John Pfeifer

Author : Shashikant Kulkarni,John Pfeifer
Publisher : Academic Press
Page : 488 pages
File Size : 47,7 Mb
Release : 2014-11-10
Category : Science
ISBN : 9780124051737

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Clinical Genomics by Shashikant Kulkarni,John Pfeifer Pdf

Clinical Genomics provides an overview of the various next-generation sequencing (NGS) technologies that are currently used in clinical diagnostic laboratories. It presents key bioinformatic challenges and the solutions that must be addressed by clinical genomicists and genomic pathologists, such as specific pipelines for identification of the full range of variants that are clinically important. This book is also focused on the challenges of diagnostic interpretation of NGS results in a clinical setting. Its final sections are devoted to the emerging regulatory issues that will govern clinical use of NGS, and reimbursement paradigms that will affect the way in which laboratory professionals get paid for the testing. Simplifies complexities of NGS technologies for rapid education of clinical genomicists and genomic pathologists towards genomic medicine paradigm Tried and tested practice-based analysis for precision diagnosis and treatment plans Specific pipelines and meta-analysis for full range of clinically important variants

Applications of RNA-Seq and Omics Strategies

Fabio Marchi,Priscila Cirillo,Elvis Cueva Mateo

Author : Fabio Marchi,Priscila Cirillo,Elvis Cueva Mateo
Publisher : BoD – Books on Demand
Page : 330 pages
File Size : 53,8 Mb
Release : 2017-09-13
Category : Medical
ISBN : 9789535135036

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Applications of RNA-Seq and Omics Strategies by Fabio Marchi,Priscila Cirillo,Elvis Cueva Mateo Pdf

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.

Childhood Acute Lymphoblastic Leukemia

Ajay Vora

Author : Ajay Vora
Publisher : Springer
Page : 342 pages
File Size : 45,9 Mb
Release : 2017-04-21
Category : Medical
ISBN : 9783319397085

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Childhood Acute Lymphoblastic Leukemia by Ajay Vora Pdf

This book provides a comprehensive and up-to-date review of all aspects of childhood Acute Lymphoblastic Leukemia, from basic biology to supportive care. It offers new insights into the genetic pre-disposition to the condition and discusses how response to early therapy and its basic biology are utilized to develop new prognostic stratification systems and target therapy. Readers will learn about current treatment and outcomes, such as immunotherapy and targeted therapy approaches. Supportive care and management of the condition in resource poor countries are also discussed in detail. This is an indispensable guide for research and laboratory scientists, pediatric hematologists as well as specialist nurses involved in the care of childhood leukemia.

Molecular Pathology in Clinical Practice

Debra G.B. Leonard

Author : Debra G.B. Leonard
Publisher : Springer Science & Business Media
Page : 589 pages
File Size : 41,9 Mb
Release : 2007-11-25
Category : Medical
ISBN : 9780387332277

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Molecular Pathology in Clinical Practice by Debra G.B. Leonard Pdf

This authoritative textbook embodies the current standard in molecular testing for practicing pathologists, and residents and fellows in training. The text is organized into eight sections: genetics, inherited cancers, infectious disease, neoplastic hematopathology, solid tumors, HLA typing, identity testing, and laboratory management. Discussion of each diagnostic test includes its clinical significance, available assays, quality control and lab issues, interpretation, and reasons for testing. Coverage extends to HIV, hepatitis, developmental disorders, bioterrorism, warfare organisms, lymphomas, breast cancer and melanoma, forensics, parentage, and much more. Includes 189 illustrations, 45 in full-color. This textbook is a classic in the making and a must-have reference.

Next Generation Sequencing Technologies in Medical Genetics

C. Alexander Valencia,M. Ali Pervaiz,Ammar Husami,Yaping Qian,Kejian Zhang

Author : C. Alexander Valencia,M. Ali Pervaiz,Ammar Husami,Yaping Qian,Kejian Zhang
Publisher : Springer Science & Business Media
Page : 94 pages
File Size : 44,5 Mb
Release : 2013-10-16
Category : Medical
ISBN : 9781461490326

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Next Generation Sequencing Technologies in Medical Genetics by C. Alexander Valencia,M. Ali Pervaiz,Ammar Husami,Yaping Qian,Kejian Zhang Pdf

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.

Statistical Analysis of Next Generation Sequencing Data

Somnath Datta,Dan Nettleton

Author : Somnath Datta,Dan Nettleton
Publisher : Springer
Page : 432 pages
File Size : 42,8 Mb
Release : 2014-07-03
Category : Medical
ISBN : 9783319072128

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Statistical Analysis of Next Generation Sequencing Data by Somnath Datta,Dan Nettleton Pdf

Next Generation Sequencing (NGS) is the latest high throughput technology to revolutionize genomic research. NGS generates massive genomic datasets that play a key role in the big data phenomenon that surrounds us today. To extract signals from high-dimensional NGS data and make valid statistical inferences and predictions, novel data analytic and statistical techniques are needed. This book contains 20 chapters written by prominent statisticians working with NGS data. The topics range from basic preprocessing and analysis with NGS data to more complex genomic applications such as copy number variation and isoform expression detection. Research statisticians who want to learn about this growing and exciting area will find this book useful. In addition, many chapters from this book could be included in graduate-level classes in statistical bioinformatics for training future biostatisticians who will be expected to deal with genomic data in basic biomedical research, genomic clinical trials and personalized medicine. About the editors: Somnath Datta is Professor and Vice Chair of Bioinformatics and Biostatistics at the University of Louisville. He is Fellow of the American Statistical Association, Fellow of the Institute of Mathematical Statistics and Elected Member of the International Statistical Institute. He has contributed to numerous research areas in Statistics, Biostatistics and Bioinformatics. Dan Nettleton is Professor and Laurence H. Baker Endowed Chair of Biological Statistics in the Department of Statistics at Iowa State University. He is Fellow of the American Statistical Association and has published research on a variety of topics in statistics, biology and bioinformatics.

Evolution of Translational Omics

Institute of Medicine,Board on Health Sciences Policy,Board on Health Care Services,Committee on the Review of Omics-Based Tests for Predicting Patient Outcomes in Clinical Trials

Author : Institute of Medicine,Board on Health Sciences Policy,Board on Health Care Services,Committee on the Review of Omics-Based Tests for Predicting Patient Outcomes in Clinical Trials
Publisher : National Academies Press
Page : 354 pages
File Size : 45,7 Mb
Release : 2012-09-13
Category : Science
ISBN : 9780309224185

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Evolution of Translational Omics by Institute of Medicine,Board on Health Sciences Policy,Board on Health Care Services,Committee on the Review of Omics-Based Tests for Predicting Patient Outcomes in Clinical Trials Pdf

Technologies collectively called omics enable simultaneous measurement of an enormous number of biomolecules; for example, genomics investigates thousands of DNA sequences, and proteomics examines large numbers of proteins. Scientists are using these technologies to develop innovative tests to detect disease and to predict a patient's likelihood of responding to specific drugs. Following a recent case involving premature use of omics-based tests in cancer clinical trials at Duke University, the NCI requested that the IOM establish a committee to recommend ways to strengthen omics-based test development and evaluation. This report identifies best practices to enhance development, evaluation, and translation of omics-based tests while simultaneously reinforcing steps to ensure that these tests are appropriately assessed for scientific validity before they are used to guide patient treatment in clinical trials.

Modern Techniques in Cytopathology

M.M. Bui,L. Pantanowitz

Author : M.M. Bui,L. Pantanowitz
Publisher : Karger Medical and Scientific Publishers
Page : 120 pages
File Size : 41,7 Mb
Release : 2020-01-13
Category : Medical
ISBN : 9783318065763

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Modern Techniques in Cytopathology by M.M. Bui,L. Pantanowitz Pdf

In the era of precision medicine, physicians are increasingly in need of more definitive diagnostic, prognostic, and predictive information derived from small biopsy specimens such as cytology samples in order to guide effective patient care. Cytopathology is well poised to meet this challenge. Whilst the traditional cytomorphologic component of cytology practice is still valid, enormous advances have been made in the field of cytopathology thanks to transformative technology and innovative individuals that have augmented the cytologists' ability to meet the demands of modern medicine. The purpose of this book is to describe, illustrate, and review many of the most recent developments regarding modern techniques employed in cytopathology. This latest monograph is intended for all cytologists including cytopathologists, cytotechnologists, cytology lab assistants, trainees, research scientists, and anyone who is interested in the field of cytopathology. We have invited pioneering experts in their respective fields to author these chapters. This book is not only the culmination of their groundbreaking work and effort but also presents a critical review of the current literature. We have attempted to provide readers with an informative and comprehensive aid so that they may better appreciate how emerging technology has been applied to cytology. Each chapter in this book presents a stand-alone contemporary review of emerging topics in cytopathology. We hope that you will find this monograph thought-provoking and a valuable reference for your practice.

Microbial Forensics

Bruce Budowle,Steven E. Schutzer,Roger G. Breeze,Paul S. Keim,Stephen A. Morse

Author : Bruce Budowle,Steven E. Schutzer,Roger G. Breeze,Paul S. Keim,Stephen A. Morse
Publisher : Academic Press
Page : 744 pages
File Size : 55,9 Mb
Release : 2010-10-27
Category : Law
ISBN : 0123820073

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Microbial Forensics by Bruce Budowle,Steven E. Schutzer,Roger G. Breeze,Paul S. Keim,Stephen A. Morse Pdf

Microbial Forensics is a rapidly evolving scientific discipline. In the last decade, and particularly due to the anthrax letter attacks in the United States, microbial forensics has become more formalized and has played an increasingly greater role in crime investigations. This has brought renewed interest, development and application of new technologies, and new rules of forensic and policy engagement. It has many applications ranging from biodefense, criminal investigations, providing intelligence information, making society more secure, and helping protect precious resources, particularly human life. A combination of diverse areas is investigated, including the major disciplines of biology, microbiology, medicine, chemistry, physics, statistics, population genetics, and computer science. Microbial Forensics, Second Edition is fully revised and updated and serves as a complete reference of the discipline. It describes the advances, as well as the challenges and opportunities ahead, and will be integral in applying science to help solve future biocrimes. A collection of microbiology, virology, toxicology and mycology as it relates to forensics, in one reference New and expanded content to include statistical analysis of forensic data and legal admissibility and the standards of evidence, to name a few Includes research information and application of that research to crime scene analysis, which will allow practitioners to understand and apply the knowledge to their practice with ease

Clinical Applications For Next Generation Sequencing

Clinical Applications for Next-Generation Sequencing by Urszula Demkow,Rafal Ploski Pdf

Next Generation Sequencing by Lee-Jun C. Wong Pdf

Precision Cancer Medicine by Sameek Roychowdhury,Eliezer M. Van Allen Pdf

P5 eHealth: An Agenda for the Health Technologies of the Future by Gabriella Pravettoni,Stefano Triberti Pdf

Next Generation Sequencing by Jerzy Kulski Pdf

Translational Bioinformatics Applications in Healthcare by Khalid Raza,Nilanjan Dey Pdf

Clinical Genomics by Shashikant Kulkarni,John Pfeifer Pdf

Applications of RNA-Seq and Omics Strategies by Fabio Marchi,Priscila Cirillo,Elvis Cueva Mateo Pdf

Childhood Acute Lymphoblastic Leukemia by Ajay Vora Pdf

Molecular Pathology in Clinical Practice by Debra G.B. Leonard Pdf

Next Generation Sequencing Technologies in Medical Genetics by C. Alexander Valencia,M. Ali Pervaiz,Ammar Husami,Yaping Qian,Kejian Zhang Pdf

Statistical Analysis of Next Generation Sequencing Data by Somnath Datta,Dan Nettleton Pdf

Evolution of Translational Omics by Institute of Medicine,Board on Health Sciences Policy,Board on Health Care Services,Committee on the Review of Omics-Based Tests for Predicting Patient Outcomes in Clinical Trials Pdf

Modern Techniques in Cytopathology by M.M. Bui,L. Pantanowitz Pdf

Microbial Forensics by Bruce Budowle,Steven E. Schutzer,Roger G. Breeze,Paul S. Keim,Stephen A. Morse Pdf

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