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Clinical Applications For Next Generation Sequencing

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Clinical Applications for Next Generation Sequencing

Clinical Applications for Next Generation Sequencing Book
Author : Urszula Demkow,Rafal Ploski
Publisher : Academic Press
Release : 2015-09-10
ISBN : 0128018410
Language : En, Es, Fr & De

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Book Description :

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

Next Generation Sequencing Book
Author : Jerzy Kulski
Publisher : BoD – Books on Demand
Release : 2016-01-14
ISBN : 9535122401
Language : En, Es, Fr & De

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Book Description :

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.

Clinical Applications for Next Generation Sequencing

Clinical Applications for Next Generation Sequencing Book
Author : Urszula Demkow,Rafal Ploski
Publisher : Academic Press
Release : 2015-10-13
ISBN : 9780128017395
Language : En, Es, Fr & De

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Book Description :

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

Translational Bioinformatics Applications in Healthcare

Translational Bioinformatics Applications in Healthcare Book
Author : Khalid Raza,Nilanjan Dey
Publisher : CRC Press
Release : 2021
ISBN : 9781003146988
Language : En, Es, Fr & De

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Book Description :

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.

Next Generation Sequencing

Next Generation Sequencing Book
Author : Lee-Jun C. Wong
Publisher : Springer Science & Business Media
Release : 2013-05-31
ISBN : 1461470013
Language : En, Es, Fr & De

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Book Description :

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. ​

P5 eHealth An Agenda for the Health Technologies of the Future

P5 eHealth  An Agenda for the Health Technologies of the Future Book
Author : Gabriella Pravettoni,Stefano Triberti
Publisher : Springer Nature
Release : 2019-11-29
ISBN : 3030279944
Language : En, Es, Fr & De

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Book Description :

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.

Applications of RNA Seq and Omics Strategies

Applications of RNA Seq and Omics Strategies Book
Author : Fabio Marchi,Priscila Cirillo,Elvis Cueva Mateo
Publisher : BoD – Books on Demand
Release : 2017-09-13
ISBN : 9535135031
Language : En, Es, Fr & De

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Book Description :

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.

Molecular Pathology in Clinical Practice

Molecular Pathology in Clinical Practice Book
Author : Debra G.B. Leonard
Publisher : Springer Science & Business Media
Release : 2007-11-25
ISBN : 0387332278
Language : En, Es, Fr & De

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Book Description :

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.

Clinical Genomics

Clinical Genomics Book
Author : Shashikant Kulkarni,John Pfeifer
Publisher : Academic Press
Release : 2014-11-10
ISBN : 0124051731
Language : En, Es, Fr & De

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Book Description :

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

Clinical Genome Sequencing

Clinical Genome Sequencing Book
Author : Aad Tibben,Barbara B. Biesecker
Publisher : Academic Press
Release : 2019-03-30
ISBN : 0128133368
Language : En, Es, Fr & De

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Book Description :

Clinical Genome Sequencing: Psychological Aspects thoroughly details key psychological factors to consider while implementing genome sequencing in clinical practice, taking into account the subtleties of genetic risk assessment, patient consent and best practices for sharing genomic findings. Chapter contributions from leading international researchers and practitioners cover topics ranging from the current state of genomic testing, to patient consent, patient responses to sequencing data, common uncertainties, direct-to-consumer genomics, the role of genome sequencing in precision medicine, genetic counseling and genome sequencing, genome sequencing in pediatrics, genome sequencing in prenatal testing, and ethical issues in genome sequencing. Applied clinical case studies support concept illustration, making this an invaluable, practical reference for this important and multifaceted topic area within genomic medicine. Features contributions from leading international researchers and practitioners versed in the psychosocial dimensions of genomic medicine implementation Presents clinical case studies that support concept illustration, making this an invaluable reference for students, researchers, and clinicians looking for practical guidance in this important and multifaceted topic area Details the current state of genomic testing, expectations of genome sequencing, patient consent, patient responses to sequencing data, uncertainties in genome sequencing, direct-to-consumer genome sequencing, and more

Genomic Applications in Pathology

Genomic Applications in Pathology Book
Author : George Jabboure Netto,Iris Schrijver
Publisher : Springer
Release : 2014-09-16
ISBN : 1493907271
Language : En, Es, Fr & De

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Book Description :

Genomic Applications in Pathology provides a state-of-the art review of the scientific principles underlying next generation genomic technologies and the required bioinformatics approaches to analyses of the daunting amount of data generated by current and emerging genomic technologies. Implementation roadmaps for various clinical assays such as single gene, gene panels, whole exome and whole genome assays are discussed together with issues related to reporting, including the pathologist’s role in interpretation and clinical integration of genomic tests results. Genomic applications for site-specific solid tumors and hematologic neoplasms are detailed, as well as genomic applications in pharmacogenomics, inherited genetic diseases, and infectious diseases. The latest iteration of practice recommendations and guidelines in genomic testing, put forth by stakeholder professional organizations such as the Association for Molecular Pathology and the College of American Pathologists, are also discussed in the volume, as well as regulatory issues and laboratory accreditation related to genomic testing. Written by experts in the field, Genomic Applications in Pathology provides a comprehensive resource that is of great value to practicing molecular pathologists, hematopathologists, other subspecialized pathologists, general pathologists, pathology trainees, oncologists, and geneticists.​

Microbial Forensics

Microbial Forensics Book
Author : Bruce Budowle,Steven E. Schutzer,Stephen A. Morse
Publisher : Academic Press
Release : 2019-11-30
ISBN : 0128153806
Language : En, Es, Fr & De

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Book Description :

Microbial Forensics, Third Edition, serves as a complete reference on the discipline, describing the advances, challenges and opportunities that are integral in applying science to help solve future biocrimes. New chapters include: Microbial Source Tracking, Clinical Recognition, Bioinformatics, and Quality Assurance. This book is intended for a wide audience, but will be indispensable to forensic scientists and researchers interested in contributing to the growing field of microbial forensics. Biologists and microbiologists, the legal and judicial system, and the international community involved with Biological Weapons Treaties will also find this volume invaluable. Presents new and expanded content that includes a statistical analysis of forensic data, legal admissibility and standards of evidence Discusses actual cases of forensic bioterrorism Includes contributions from editors and authors who are leading experts in the field, with primary experience in the application of this fast-growing discipline

Precision Cancer Medicine

Precision Cancer Medicine Book
Author : Sameek Roychowdhury,Eliezer M. Van Allen
Publisher : Springer Nature
Release : 2020-01-02
ISBN : 3030236374
Language : En, Es, Fr & De

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Book Description :

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.

Next Generation Sequencing Data Analysis

Next Generation Sequencing Data Analysis Book
Author : Xinkun Wang
Publisher : CRC Press
Release : 2016-04-06
ISBN : 1482217899
Language : En, Es, Fr & De

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Book Description :

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

Next Generation Sequencing Technologies in Medical Genetics

Next Generation Sequencing Technologies in Medical Genetics Book
Author : C. Alexander Valencia,M. Ali Pervaiz,Ammar Husami,Yaping Qian,Kejian Zhang
Publisher : Springer Science & Business Media
Release : 2013-10-16
ISBN : 1461490324
Language : En, Es, Fr & De

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Book Description :

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.​

Evolution of Translational Omics

Evolution of Translational Omics Book
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
Release : 2012-09-13
ISBN : 0309224187
Language : En, Es, Fr & De

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Book Description :

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.

Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders

Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders Book
Author : Lee-Jun C. Wong
Publisher : Springer
Release : 2017-05-15
ISBN : 3319564188
Language : En, Es, Fr & De

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Book Description :

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. The purpose of this book is to summarize the experiences, the results, advantages and disadvantages, along with future development in the area of NGS-based molecular diagnosis. This up-to-date volume will not only provide the readers working with Next Generation Sequencing the basics on how to apply the technology to molecular diagnosis, but will present the results and experience of practical application.

Next Generation Sequencing in Medicine

Next Generation Sequencing in Medicine Book
Author : W. Richard McCombie,Elaine R. Mardis,James A. Knowles,John D. McPherson
Publisher : Perspectives Cshl
Release : 2019
ISBN : 9781621821137
Language : En, Es, Fr & De

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Book Description :

Next-generation sequencing technologies have the capacity to generate large numbers of DNA sequence reads at relatively high speed and low cost. These technologies have revolutionized biomedical research and are increasingly employed in clinical settings, where they can be used to detect inherited disorders, predict disease risk, and personalize therapies. Written and edited by experts in the field, this collection from Cold Spring Harbor Perspectives in Medicine examines next-generation sequencing technologies and their use, particularly in translational research. The contributors discuss the various sequencing platforms, their capabilities, and their applications in both research and clinical practice. The roles of next-generation sequencing in diagnosing autism and intellectual disabilities, monitoring cancers during disease progression, and determining the most appropriate drug treatments for patients are also covered. In addition, the authors consider the practical challenges (e.g., data storage) and ethical implications of using next-generation sequencing technologies. This volume is therefore an essential read for all scientists and physicians interested in these technologies and how they are impacting biomedicine.

Childhood Acute Lymphoblastic Leukemia

Childhood Acute Lymphoblastic Leukemia Book
Author : Ajay Vora
Publisher : Springer
Release : 2017-04-21
ISBN : 3319397087
Language : En, Es, Fr & De

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Book Description :

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.

Umbilical Cord Blood Banking for Clinical Application and Regenerative Medicine

Umbilical Cord Blood Banking for Clinical Application and Regenerative Medicine Book
Author : Ana Colette Maurício
Publisher : BoD – Books on Demand
Release : 2017-01-11
ISBN : 9535128655
Language : En, Es, Fr & De

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Book Description :

Umbilical cord blood (UCB) and, more recently, umbilical cord tissue (UCT) have been stored cryopreserved in private and public cord blood and tissue banks worldwide, since the umbilical cord blood was used for the first time in a child with Fanconi anemia with his HLA-identical sibling, following strict guidelines that imply high-quality standards and total rastreability of these units. The hematopoietic stem cells (HSCs) are clinically used in hematopoietic treatments for blood disorders and hemato-oncological diseases. Also, the mesenchymal stem cells (MSCs) isolated from the UCT and UCB, nowadays, can be used as coadjuvants of hematopoietic transplants. In the near future, these stem cells will have a crucial role in regenerative medicine. For this reason, these cells have been tested in several clinical trials and compassive treatments in children and adults, concerning a wide range of pathologies and diseases, for instance, for the treatment of cerebral paralysis. Considering the worldwide availability of UCB and UCT units and the absence of ethical concerns will probably become the best sources for cell-based therapies for hematological and nonhematological pathologies. The UCB will also have a crucial role in neonatology-predictive analysis in the near future.