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Author : María L. Couce
Publisher : Frontiers Media SA
ISBN 13 : 2832508766
Total Pages : 257 pages
Book Rating : 4.63/5 ( download)
Download or read book NGS Technologies of Rare Diseases Diagnosis written by María L. Couce and published by Frontiers Media SA. This book was released on 2022-12-05 with total page 257 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Author : Xiu-An Yang
Publisher : Frontiers Media SA
ISBN 13 : 2889742032
Total Pages : 104 pages
Book Rating : 4.35/5 ( download)
Download or read book Next Generation Sequencing (NGS) for Rare Diseases Diagnosis written by Xiu-An Yang and published by Frontiers Media SA. This book was released on 2022-01-28 with total page 104 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Author : Urszula Demkow
Publisher : Academic Press
ISBN 13 : 0128018410
Total Pages : 336 pages
Book Rating : 4.15/5 ( download)
Download or read book Clinical Applications for Next-Generation Sequencing written by Urszula Demkow and published by Academic Press. This book was released on 2015-09-10 with total page 336 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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 : Xiu-An Yang
Publisher : Frontiers Media SA
ISBN 13 : 2832530729
Total Pages : 165 pages
Book Rating : 4.26/5 ( download)
Download or read book Next generation sequencing (NGS) for rare diseases diagnosis - volume II written by Xiu-An Yang and published by Frontiers Media SA. This book was released on 2023-07-31 with total page 165 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Author : Claudia Gonzaga-Jauregui
Publisher : Academic Press
ISBN 13 : 0128204362
Total Pages : 316 pages
Book Rating : 4.68/5 ( download)
Download or read book Genomics of Rare Diseases written by Claudia Gonzaga-Jauregui and published by Academic Press. This book was released on 2021-06-12 with total page 316 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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 : Muhammad Umair
Publisher : Springer Nature
ISBN 13 : 9819993237
Total Pages : 283 pages
Book Rating : 4.39/5 ( download)
Download or read book Rare Genetic Disorders written by Muhammad Umair and published by Springer Nature. This book was released on with total page 283 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Author : Gabriella Pravettoni
Publisher : Springer Nature
ISBN 13 : 3030279944
Total Pages : 191 pages
Book Rating : 4.43/5 ( download)
Download or read book P5 eHealth: An Agenda for the Health Technologies of the Future written by Gabriella Pravettoni and published by Springer Nature. This book was released on 2019-11-29 with total page 191 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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 : Zhichao Liu
Publisher : Frontiers Media SA
ISBN 13 : 2889760642
Total Pages : 206 pages
Book Rating : 4.40/5 ( download)
Download or read book Emerging Technologies Powering Rare and Neglected Disease Diagnosis and Therapy Development written by Zhichao Liu and published by Frontiers Media SA. This book was released on 2022-05-03 with total page 206 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Author : Arvin M. Gouw
Publisher :
ISBN 13 :
Total Pages : 0 pages
Book Rating : 4.78/5 ( download)
Download or read book Applying Next Generation Sequencing and Transgenic Models to Rare Disease Research written by Arvin M. Gouw and published by . This book was released on 2020 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: A rare disease is a disease that occurs infrequently in the general population, typically affecting fewer than 200,000 Americans at any given time. More than 30 million people in the United States of America (USA) and 350 million people globally suffer from rare diseases. Out of the 7000+ known rare diseases, less than 5% have approved treatments. Rare diseases are frequently chronic, progressive, degenerative, and life-threatening, compromising the lives of patients by loss of autonomy. In the USA, it can take years for a rare disease patient to receive a correct diagnosis. The socioeconomic burden for rare disease is huge. For those living with diagnosed rare diseases, there is no support system or resource bank for navigating financial, educational, or other aspects of having a rare disease. The purpose of this Research Topic is to bring together leading researchers, non-profit organizations, healthcare providers/diagnostic companies, and pharma/biotech/CROs in the field to provide a broad perspective on the latest advances, challenges, and opportunities in rare disease research.
Author : Dhavendra Kumar
Publisher : Oxford Monographs on Medical G
ISBN 13 : 019989602X
Total Pages : 853 pages
Book Rating : 4.28/5 ( download)
Download or read book Genomic Medicine written by Dhavendra Kumar and published by Oxford Monographs on Medical G. This book was released on 2014-10-15 with total page 853 pages. Available in PDF, EPUB and Kindle. Book excerpt: Preceded by Genomics and clinical medicine / edited by Dhavendra Kumar. [First edition]. 2008.
