NGS Technologies of Rare Diseases Diagnosis PDF Download
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Author: María L. Couce
Publisher: Frontiers Media SA
ISBN: 2832508766
Category : Science
Languages : en
Pages : 257
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Book Description
Author: María L. Couce
Publisher: Frontiers Media SA
ISBN: 2832508766
Category : Science
Languages : en
Pages : 257
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Book Description
Author: Xiu-An Yang
Publisher: Frontiers Media SA
ISBN: 2889742032
Category : Science
Languages : en
Pages : 104
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Book Description
Author: Urszula Demkow
Publisher: Academic Press
ISBN: 0128018410
Category : Science
Languages : en
Pages : 334
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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
Author: Claudia Gonzaga-Jauregui
Publisher: Academic Press
ISBN: 0128204362
Category : Medical
Languages : en
Pages : 316
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Book Description
Genomics of Rare Diseases: Understanding Disease Genetics Using Genomic Approaches, a new volume in the Translational and Applied Genomics series, offers readers a broad understanding of current knowledge on rare diseases through a genomics lens. This clear understanding of the latest molecular and genomic technologies used to elucidate the molecular causes of more than 5,000 genetic disorders brings readers closer to unraveling many more that remain undefined and undiscovered. The challenges associated with performing rare disease research are also discussed, as well as the opportunities that the study of these disorders provides for improving our understanding of disease architecture and pathophysiology. Leading chapter authors in the field discuss approaches such as karyotyping and genomic sequencing for the better diagnosis and treatment of conditions including recessive diseases, dominant and X-linked disorders, de novo mutations, sporadic disorders and mosaicism. Compiles applied case studies and methodologies, enabling researchers, clinicians and healthcare providers to effectively classify DNA variants associated with disease and patient phenotypes Discusses the main challenges in studying the genetics of rare diseases through genomic approaches and possible or ongoing solutions Explores opportunities for novel therapeutics Features chapter contributions from leading researchers and clinicians
Author: Xiu-An Yang
Publisher: Frontiers Media SA
ISBN: 2832530729
Category : Science
Languages : en
Pages : 165
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Book Description
Author: Ajay Vora
Publisher: Springer
ISBN: 3319397087
Category : Medical
Languages : en
Pages : 342
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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.
Author: Gabriella Pravettoni
Publisher: Springer Nature
ISBN: 3030279944
Category : Psychology
Languages : en
Pages : 191
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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.
Author: Oana-Maria Boldura
Publisher: BoD – Books on Demand
ISBN: 1789848563
Category : Science
Languages : en
Pages : 207
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Book Description
This book explores the role of nucleic acid analysis and the advances it has led to in the field of life sciences. The first section is a collection of chapters covering experimental methods used in molecular biology, the techniques adjacent to these methods, and the steps of analysis before and after obtaining raw DNA data. The second section deals with the principles of chromatography, method development, sample preparation, and industrial applications.
Author: Zhichao Liu
Publisher: Frontiers Media SA
ISBN: 2889661628
Category : Science
Languages : en
Pages : 297
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Book Description
This eBook is a collection of articles from a Frontiers Research Topic. Frontiers Research Topics are very popular trademarks of the Frontiers Journals Series: they are collections of at least ten articles, all centered on a particular subject. With their unique mix of varied contributions from Original Research to Review Articles, Frontiers Research Topics unify the most influential researchers, the latest key findings and historical advances in a hot research area! Find out more on how to host your own Frontiers Research Topic or contribute to one as an author by contacting the Frontiers Editorial Office: frontiersin.org/about/contact.
Author: Dhavendra Kumar
Publisher: Oxford Monographs on Medical G
ISBN: 019989602X
Category : Medical
Languages : en
Pages : 853
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Book Description
Preceded by Genomics and clinical medicine / edited by Dhavendra Kumar. [First edition]. 2008.
