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Author : María L. Couce
Publisher : Frontiers Media SA
ISBN 13 : 2832508766
Total Pages : 257 pages
Book Rating : 4.8/5 (325 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 : 4.8/5 (897 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 : 4.1/5 (28 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 : Naser M. Ali
Publisher :
ISBN 13 :
Total Pages : 0 pages
Book Rating : 4.:/5 (144 download)
Download or read book Genetic Studies Into Rare Diseases and Cancer Using Next Generation Sequencing Technologies written by Naser M. Ali and published by . This book was released on 2019 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Rare genetic diseases (RGDs) and rare sporadic cancers are often considered as two separate groups of diseases. Nevertheless, both groups share the same burden: their rarity and the challenges in diagnosis and treatment, thus affecting the wellbeing of many patients and their families around the world. Although next generation sequencing (NGS) technologies have revolutionised the genetic landscape of RGDs and cancers, many patients with these diseases are still without a definitive molecular diagnosis. In this thesis, NGS was conducted on congenital hypothyroidism (CHT) families (an example of an RGD) and three rare bone cancers, aiming to expand the understanding of the genetic and pathogenic mechanisms of these diseases. To identify known or novel disease-causing genes, WES was conducted on four families with CHT. In one family, a homozygous candidate variant in SIX2 was identified, and subsequent functional characterisation experiments and family segregation analyses were performed. After more family members were included, the SIX2 variant did not segregate with the disease in the family and, therefore, was classified as unlikely disease causing. WES and RNA sequencing (RNA-Seq) were conducted on three rare bone tumours: undifferentiated pleomorphic sarcoma of bone (UPSb), adamantinoma and osteofibrous dysplasia (OFD)-like adamantinoma. In UPSb tumours, 31 genes were recurrently mutated, including TP53 in 4/14 samples (29%), and chromatin remodelling genes (ATRX, H3F3A, DOT1L) in 5/14 samples (36%). In addition, two previously reported gene fusions (CLTC-VMP1 and FARP1-STK24) were identified in these tumours. In adamantinoma tumours, KMT2D, a histone methyltransferase, was recurrently mutated in 2/8 adamantinomas (25%). In addition, a cancer predisposing germline fusion (KANSL1-ARL17A) was identified in 4/6 adamantinoma (66.7%) and in 3/4 OFD-like adamantinoma (75%) tumours. This thesis is a practical example demonstrating how rare diseases and cancers can be investigated using the same high-throughput techniques. Moreover, the three bone tumour studies represent the first comprehensive WES and RNA-Seq analyses conducted on these tumours, revealing novel molecular insights that can be translated into clinical practices to enhance the diagnosis, prognosis and the outcomes of patients with these diseases.
Author : Xiu-An Yang
Publisher : Frontiers Media SA
ISBN 13 : 2832530729
Total Pages : 165 pages
Book Rating : 4.8/5 (325 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 : C. Alexander Valencia
Publisher : Springer Science & Business Media
ISBN 13 : 1461490324
Total Pages : 101 pages
Book Rating : 4.4/5 (614 download)
Download or read book Next Generation Sequencing Technologies in Medical Genetics written by C. Alexander Valencia and published by Springer Science & Business Media. This book was released on 2013-10-16 with total page 101 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Author : Claudia Gonzaga-Jauregui
Publisher : Academic Press
ISBN 13 : 0128204362
Total Pages : 316 pages
Book Rating : 4.1/5 (282 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 : 4.8/5 (199 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 : Zhichao Liu
Publisher : Frontiers Media SA
ISBN 13 : 2889760642
Total Pages : 206 pages
Book Rating : 4.8/5 (897 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 : Lee-Jun C. Wong
Publisher : Springer
ISBN 13 : 3319564188
Total Pages : 366 pages
Book Rating : 4.3/5 (195 download)
Download or read book Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders written by Lee-Jun C. Wong and published by Springer. This book was released on 2017-05-15 with total page 366 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Author : Arvin M. Gouw
Publisher :
ISBN 13 :
Total Pages : 0 pages
Book Rating : 4.:/5 (136 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 : Zhichao Liu
Publisher : Frontiers Media SA
ISBN 13 : 2889661628
Total Pages : 297 pages
Book Rating : 4.8/5 (896 download)
Download or read book Advancing Genomics for Rare Disease Diagnosis and Therapy Development written by Zhichao Liu and published by Frontiers Media SA. This book was released on 2020-12-08 with total page 297 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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 : National Organization for Rare Disorders
Publisher : Lippincott Williams & Wilkins
ISBN 13 : 9780781730631
Total Pages : 982 pages
Book Rating : 4.7/5 (36 download)
Download or read book NORD Guide to Rare Disorders written by National Organization for Rare Disorders and published by Lippincott Williams & Wilkins. This book was released on 2003 with total page 982 pages. Available in PDF, EPUB and Kindle. Book excerpt: NORD Guide to Rare Disorders is a comprehensive, practical, authoritative guide to the diagnosis and management of more than 800 rare diseases. The diseases are discussed in a uniform, easy-to-follow format--a brief description, signs and symptoms, etiology, related disorders, epidemiology, standard treatment, investigational treatment, resources, and references.The book includes a complete directory of orphan drugs, a full-color atlas of visual diagnostic signs, and a Master Resource List of support groups and helpful organizations. An index of symptoms and key words offers physicians valuable assistance in finding the information they need quickly.
Author : Bruce Budowle
Publisher : Academic Press
ISBN 13 : 0123820073
Total Pages : 753 pages
Book Rating : 4.1/5 (238 download)
Download or read book Microbial Forensics written by Bruce Budowle and published by Academic Press. This book was released on 2010-10-27 with total page 753 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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
Author : Dhavendra Kumar
Publisher : Oxford Monographs on Medical G
ISBN 13 : 019989602X
Total Pages : 853 pages
Book Rating : 4.1/5 (998 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.
Author : Ana Sanfilippo and
Publisher :
ISBN 13 : 9781320075657
Total Pages : pages
Book Rating : 4.0/5 (756 download)
Download or read book Rare Diseases: Diagnosis, Therapies and Hope written by Ana Sanfilippo and and published by . This book was released on 2014-07-20 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt: This book gives readers a firsthand look at the impact genome sequencing and other advanced techniques are having on rare diseases. It is unique in that it goes beyond the clinical side of the topic and includes very personal stories told by the families living with rare diseases. “These rare diseases are collectively so common, affecting over 300 million globally,” says co-author Dr. Jimmy Lin, MD, PhD, MHS. The key to assembling such a comprehensive resource was the year long process to examine the topic from all sides. The guide brings together interviews and visits with families that are currently battling rare diseases along with leading experts. The results of all this hard work is a valuable resource that will educate and inspire hope. “We are part of a growing movement to raise global awareness of rare diseases, and we are so pleased to be able to offer one of the early books for families living with rare diseases,” said the book’s co-author Ana Sanfilippo. The book includes expert interviews and remarkable stories from families like: - Amylynne Volker, whose son was the first child saved through DNA sequencing - Dallas police officer Mark Dant who raised over $3M for research that saved his son Ryan’s life - John Crowley, who saved his own children’s lives through creating a new company to develop a new drug, which is now the standard of care - Retta Beery, whose twins, Noah and Alexis, are alive due to her own exhaustive medical research and genomics. Please note there is no markup on the book and that the price is the Blurb book price only.
Author : Ana Sanfilippo
Publisher :
ISBN 13 : 9781320056618
Total Pages : pages
Book Rating : 4.0/5 (566 download)
Download or read book Rare Diseases: Diagnosis, Therapies and Hope written by Ana Sanfilippo and published by . This book was released on 2014-07-01 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt: This book gives readers a firsthand look at the impact genome sequencing and other advanced techniques are having on rare diseases. It is unique in that it goes beyond the clinical side of the topic and includes very personal stories told by the families living with rare diseases. “These rare diseases are collectively so common, affecting over 300 million globally,” says co-author Dr. Jimmy Lin, MD, PhD, MHS. The key to assembling such a comprehensive resource was the year long process RGI undertook to examine the topic from all sides. The guide brings together interviews and visits with families that are currently battling rare diseases along with leading experts. The results of all this hard work is a valuable resource that will educate and inspire hope. “We are part of a growing movement to raise global awareness of rare diseases, and we are so pleased to be able to offer one of the early books for families living with rare diseases,” said the book’s co-author Ana Sanfilippo. The book includes twenty expert interviews and remarkable stories from families like: - Amylynne Volker, whose son was the first child saved through DNA sequencing - Dallas police officer Mark Dant who raised over $3M for research that saved his son Ryan’s life - John Crowley, who saved his own children’s lives through creating a new company to develop a new drug, which is now the standard of care - Retta Beery, whose twins, Noah and Alexis, are alive due to her own exhaustive medical research and genomics. Please note there is no markup on the book and that the price is the Amazon book price only.
