Clinical Applications For Next Generation Sequencing

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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.

Translational Bioinformatics Applications In Healthcare

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Author : Khalid Raza
language : en
Publisher: CRC Press
Release Date : 2021-04-19

Translational Bioinformatics Applications In Healthcare written by Khalid Raza and has been published by CRC Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2021-04-19 with Computers categories.

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.

P5 Ehealth An Agenda For The Health Technologies Of The Future

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Author : Gabriella Pravettoni
language : en
Publisher: Springer Nature
Release Date : 2019-11-29

P5 Ehealth An Agenda For The Health Technologies Of The Future written by Gabriella Pravettoni and has been published by Springer Nature this book supported file pdf, txt, epub, kindle and other format this book has been release on 2019-11-29 with Psychology categories.

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

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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.

Clinical Genomics Second Edition

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Author : Shashikant Kulkarni
language : en
Publisher: Academic Press
Release Date : 2023-05-01

Clinical Genomics Second Edition written by Shashikant Kulkarni and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2023-05-01 with Science categories.

Clinical Genomics, Second Edition provides a full overview of next-generation sequencing (NGS) technologies that are currently used in clinical diagnostic laboratories. The book presents key bioinformatic challenges and 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. It focuses on the challenges of diagnostic interpretation of NGS results in a clinical setting, with later sections devoted to emerging regulatory issues governing the clinical use of NGS and reimbursement paradigms that will affect the way in which laboratory professionals get compensated for testing. Following the wide use of the current edition by clinicians and researchers alike, this fully revised, new edition addresses the evolving landscape of genomics medicine, along with recent advances in our understanding of molecular mechanisms of human diseases and developmental biology. In addition, the book updates on sequencing chemistry and platforms, bioinformatics algorithms, clinical informatics, IT infrastructure and emerging applications of artificial intelligence in genomics.

Translational Bioinformatics In Healthcare And Medicine

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Author :
language : en
Publisher: Academic Press
Release Date : 2021-05-13

Translational Bioinformatics In Healthcare And Medicine written by and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2021-05-13 with Medical categories.

Translational Bioinformatics in Healthcare and Medicine offers an overview of main principles of bioinformatics, biological databases, clinical informatics, health informatics, viroinformatics and real-case applications of translational bioinformatics in healthcare. Written by experts from both technology and clinical sides, the content brings together essential knowledge to make the best of recent advancements of the field. The book discusses topics such as next generation sequence analysis, genomics in clinical care, IoT applications, blockchain technology, patient centered interoperability of EHR, health data mining, and translational bioinformatics methods for drug discovery and drug repurposing. In addition, it discusses the role of bioinformatics in cancer research and viroinformatics approaches to counter viral diseases through informatics. This is a valuable resource for bioinformaticians, clinicians, healthcare professionals, graduate students and several members of biomedical field who are interested in learning more about how bioinformatics can impact in their research and practice. - Covers recent advancements in translational bioinformatics and its healthcare applications - Discusses integrative and multidisciplinary approaches to U-healthcare systems development and management - Bridges the gap among various knowledge domains in the field, integrating both technological and clinical knowledge into practical content

Precision Cancer Medicine

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Author : Sameek Roychowdhury
language : en
Publisher: Springer Nature
Release Date : 2020-01-02

Precision Cancer Medicine written by Sameek Roychowdhury and has been published by Springer Nature this book supported file pdf, txt, epub, kindle and other format this book has been release on 2020-01-02 with Medical categories.

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.

Hematologic Malignancies

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Author : Manorama Bhargava
language : en
Publisher: Springer Nature
Release Date : 2021-02-13

Hematologic Malignancies written by Manorama Bhargava and has been published by Springer Nature this book supported file pdf, txt, epub, kindle and other format this book has been release on 2021-02-13 with Medical categories.

This book is a compendium of case studies in hematologic malignancies such as acute leukemias, myelodysplastic and myeloproliferative neoplasms, chronic leukemias and multiple myeloma covering cytogenetics (karyotyping Fluorescence in sitn hybridization (FISH)) and molecular studies in detail. The first few chapters describe the methodology employed for karyotyping, FISH and Real Time PCR technology conducive to establishment of these labs if required. Each case study is described in detail by including the clinical history of the patient, findings of peripheral blood, bone marrow aspirate and bone biopsy morphological details. This is then followed by flowcytometric immunophenotyping, cytogenetic and molecular observations leading collectively to a final diagnosis, A discussion follows based on the relevance of this data in informing the prognosis, treatment response and survival in these patients. Additionally, this data serves as a key determinant for clinical decision making involving evidence based rational management of patients including targeted therapy. For better understanding, each case study is accompanied by black and white or colour images as appropriate. This book is a source of learning and a valuable read for clinical hematologists, hematopathologists, medical oncologists, residents, interns, DM Hematology students and DNB Hematology students as well.