Next Generation Sequencing Based Clinical Molecular Diagnosis Of Human Genetic Disorders

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Clinical Applications for Next-Generation Sequencing

Author : Urszula Demkow
Publisher : Academic Press
ISBN 13 : 0128018410
Total Pages : 336 pages
Book Rating : 4.1/5 (28 download)

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Book Synopsis Clinical Applications for Next-Generation Sequencing by : Urszula Demkow

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

Molecular Diagnostics

Author : George P. Patrinos
Publisher : Academic Press
ISBN 13 : 0128029889
Total Pages : 526 pages
Book Rating : 4.1/5 (28 download)

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Book Synopsis Molecular Diagnostics by : George P. Patrinos

Download or read book Molecular Diagnostics written by George P. Patrinos and published by Academic Press. This book was released on 2016-10-27 with total page 526 pages. Available in PDF, EPUB and Kindle. Book excerpt: Molecular Diagnostics, Third Edition, focuses on the technologies and applications that professionals need to work in, develop, and manage a clinical diagnostic laboratory. Each chapter contains an expert introduction to each subject that is next to technical details and many applications for molecular genetic testing that can be found in comprehensive reference lists at the end of each chapter. Contents are divided into three parts, technologies, application of those technologies, and related issues. The first part is dedicated to the battery of the most widely used molecular pathology techniques. New chapters have been added, including the various new technologies involved in next-generation sequencing (mutation detection, gene expression, etc.), mass spectrometry, and protein-specific methodologies. All revised chapters have been completely updated, to include not only technology innovations, but also novel diagnostic applications. As with previous editions, each of the chapters in this section includes a brief description of the technique followed by examples from the area of expertise from the selected contributor. The second part of the book attempts to integrate previously analyzed technologies into the different aspects of molecular diagnostics, such as identification of genetically modified organisms, stem cells, pharmacogenomics, modern forensic science, molecular microbiology, and genetic diagnosis. Part three focuses on various everyday issues in a diagnostic laboratory, from genetic counseling and related ethical and psychological issues, to safety and quality management. - Presents a comprehensive account of all new technologies and applications used in clinical diagnostic laboratories - Explores a wide range of molecular-based tests that are available to assess DNA variation and changes in gene expression - Offers clear translational presentations by the top molecular pathologists, clinical chemists, and molecular geneticists in the field

Molecular Diagnosis of Genetic Diseases

Author : Rob Elles
Publisher : Springer Science & Business Media
ISBN 13 : 1592594328
Total Pages : 392 pages
Book Rating : 4.5/5 (925 download)

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Book Synopsis Molecular Diagnosis of Genetic Diseases by : Rob Elles

Download or read book Molecular Diagnosis of Genetic Diseases written by Rob Elles and published by Springer Science & Business Media. This book was released on 2008-02-01 with total page 392 pages. Available in PDF, EPUB and Kindle. Book excerpt: This completely revised and updated second edition to integrates the many new technologies and insights now available for the diagnosis of genetic diseases. The authors use such methodologies as PCR optimization dosage analysis, mutation scanning, and quantitative fluorescent PCR for aneuploidy analysis, Neurofibromatosis type 1, and Duchenne muscular dystrophy. These largely generic methodologies may be adapted to most genetic conditions for which a molecular diagnosis is relevant, no matter how frequent or rare their incidence. Molecular Diagnosis of Genetic Diseases, Second Edition offers diagnostic molecular geneticists a unique opportunity to sharpen their scientific skills in the design of assays, their execution, and their interpretation.

Next Generation Sequencing

Author : Lee-Jun C. Wong
Publisher : Springer Science & Business Media
ISBN 13 : 1461470013
Total Pages : 302 pages
Book Rating : 4.4/5 (614 download)

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Book Synopsis Next Generation Sequencing by : Lee-Jun C. Wong

Download or read book Next Generation Sequencing written by Lee-Jun C. Wong and published by Springer Science & Business Media. This book was released on 2013-05-31 with total page 302 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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 Based Clinical Molecular Diagnosis of Human Genetic Disorders

Author : Lee-Jun C. Wong
Publisher : Springer
ISBN 13 : 3319564188
Total Pages : 366 pages
Book Rating : 4.3/5 (195 download)

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Book Synopsis Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders by : Lee-Jun C. Wong

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.

Clinical Molecular Diagnostics

Author : Shiyang Pan
Publisher : Springer Nature
ISBN 13 : 9811610371
Total Pages : 889 pages
Book Rating : 4.8/5 (116 download)

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Book Synopsis Clinical Molecular Diagnostics by : Shiyang Pan

Download or read book Clinical Molecular Diagnostics written by Shiyang Pan and published by Springer Nature. This book was released on 2021-07-08 with total page 889 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book covers the discovery of molecular biomarkers, the development of laboratory testing techniques and their clinical applications, focusing on basic research to clinical practice. It introduces new and crucial knowledge and ethics of clinical molecular diagnosis. This book emphasizes the applications of clinical molecular diagnostic test on health management, especially from different diseased organs. It lets readers to understand and realize precision healthcare.

Childhood Acute Lymphoblastic Leukemia

Author : Ajay Vora
Publisher : Springer
ISBN 13 : 3319397087
Total Pages : 345 pages
Book Rating : 4.3/5 (193 download)

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Book Synopsis Childhood Acute Lymphoblastic Leukemia by : Ajay Vora

Download or read book Childhood Acute Lymphoblastic Leukemia written by Ajay Vora and published by Springer. This book was released on 2017-04-21 with total page 345 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Human Gene Mutation

Author : David N. Cooper
Publisher : Taylor & Francis
ISBN 13 : 9781859960554
Total Pages : 412 pages
Book Rating : 4.9/5 (65 download)

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Book Synopsis Human Gene Mutation by : David N. Cooper

Download or read book Human Gene Mutation written by David N. Cooper and published by Taylor & Francis. This book was released on 1995 with total page 412 pages. Available in PDF, EPUB and Kindle. Book excerpt: Within the last decade, much progress has been made in the analysis and diagnosis of human inherited disease, and in the characterization of the underlying genes and their associated pathological lesions.

Genomics of Rare Diseases

Author : Claudia Gonzaga-Jauregui
Publisher : Academic Press
ISBN 13 : 0128204362
Total Pages : 318 pages
Book Rating : 4.1/5 (282 download)

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Book Synopsis Genomics of Rare Diseases by : Claudia Gonzaga-Jauregui

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 318 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

Molecular Genetic Pathology

Author : Liang Cheng
Publisher : Springer
ISBN 13 : 9781461447993
Total Pages : 1136 pages
Book Rating : 4.4/5 (479 download)

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Book Synopsis Molecular Genetic Pathology by : Liang Cheng

Download or read book Molecular Genetic Pathology written by Liang Cheng and published by Springer. This book was released on 2013-03-05 with total page 1136 pages. Available in PDF, EPUB and Kindle. Book excerpt: Molecular Genetic Pathology, Second Edition presents up-to-date material containing fundamental information relevant to the clinical practice of molecular genetic pathology. Fully updated in each area and expanded to include identification of new infectious agents (H1N1), new diagnostic biomarkers and biomarkers for targeted cancer therapy. This edition is also expanded to include the many new technologies that have become available in the past few years such as microarray (AmpliChip) and high throughput deep sequencing, which will certainly change the clinical practice of molecular genetic pathology. Part I examines the clinical aspects of molecular biology and technology, genomics. Poharmacogenomics and proteomics, while Part II covers the clinically relevant information of medical genetics, hematology, transfusion medicine, oncology, and forensic pathology. Supplemented with many useful figures and presented in a helpful bullet-point format, Molecular Genetic Pathology, Second Edition provides a unique reference for practicing pathologists, oncologists, internists, and medical genetisists. Furthermore, a book with concise overview of the field and highlights of clinical applications will certainly help those trainees, including pathology residents, genetics residents, molecular pathology fellows, internists, hematology/oncology fellows, and medical technologists in preparing for their board examination/certification.

Genomic Disorders

Author : James R. Lupski
Publisher : Springer Science & Business Media
ISBN 13 : 1597450391
Total Pages : 419 pages
Book Rating : 4.5/5 (974 download)

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Book Synopsis Genomic Disorders by : James R. Lupski

Download or read book Genomic Disorders written by James R. Lupski and published by Springer Science & Business Media. This book was released on 2007-11-10 with total page 419 pages. Available in PDF, EPUB and Kindle. Book excerpt: A grand summary and synthesis of the tremendous amount of data now available in the post genomic era on the structural features, architecture, and evolution of the human genome. The authors demonstrate how such architectural features may be important to both evolution and to explaining the susceptibility to those DNA rearrangements associated with disease. Technologies to assay for such structural variation of the human genome and to model genomic disorders in mice are also presented. Two appendices detail the genomic disorders, providing genomic features at the locus undergoing rearrangement, their clinical features, and frequency of detection.

Nucleic Acid Sequencing Methods in Diagnostic Laboratory Medicine

Author : Thomas J. Lenk
Publisher :
ISBN 13 : 9781562389536
Total Pages : 123 pages
Book Rating : 4.3/5 (895 download)

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Book Synopsis Nucleic Acid Sequencing Methods in Diagnostic Laboratory Medicine by : Thomas J. Lenk

Download or read book Nucleic Acid Sequencing Methods in Diagnostic Laboratory Medicine written by Thomas J. Lenk and published by . This book was released on 2014 with total page 123 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Diagnostic Molecular Pathology

Author : William B. Coleman
Publisher : Academic Press
ISBN 13 : 0128229934
Total Pages : 846 pages
Book Rating : 4.1/5 (282 download)

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Book Synopsis Diagnostic Molecular Pathology by : William B. Coleman

Download or read book Diagnostic Molecular Pathology written by William B. Coleman and published by Academic Press. This book was released on 2023-10-18 with total page 846 pages. Available in PDF, EPUB and Kindle. Book excerpt: Diagnostic Molecular Pathology: A Guide to Applied Molecular Testing, Second Edition assembles a group of experts to discuss the molecular basis and mechanisms of major human diseases and disease processes and how the molecular features of disease can be harnessed to develop practical molecular tests for disease detection, diagnosis and prognosis. The book explains how molecular tests are utilized in the treatment of patients in personalized medicine, highlights new technologies and approaches of applied molecular pathology, and discusses how this discovery-based research yields new and useful biomarkers and tests. As it is essential to stay up-to-date on new molecular diagnostics in this changing field, this book covers critically important areas in the practice of personalized medicine and reflects our understanding of the pathology, pathogenesis and pathophysiology of human disease. - Includes new material on mass spectrometry for infectious diseases, microbiome, homology-directed repair for PARPi, whole genome sequencing for constitutional testing, and much more - Provides insights on the value of the molecular test in comparison to traditional methods, which include speed, precision, sensitivity and clinical impacts for the patient - Focuses on the menu of molecular diagnostic tests available in modern molecular pathology or clinical laboratories that can be applied to disease detection, diagnosis and classification in the clinical workup of a patient - Explains how molecular tests are utilized to guide the treatment of patients in personalized medicine (guided therapies) and for the prognostication of disease

Microbial Forensics

Author : Bruce Budowle
Publisher : Academic Press
ISBN 13 : 0123820073
Total Pages : 753 pages
Book Rating : 4.1/5 (238 download)

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Book Synopsis Microbial Forensics by : Bruce Budowle

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

Genetics of Endocrine Diseases and Syndromes

Author : Peter Igaz
Publisher : Springer Nature
ISBN 13 : 3030259056
Total Pages : 476 pages
Book Rating : 4.0/5 (32 download)

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Book Synopsis Genetics of Endocrine Diseases and Syndromes by : Peter Igaz

Download or read book Genetics of Endocrine Diseases and Syndromes written by Peter Igaz and published by Springer Nature. This book was released on 2019-10-06 with total page 476 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides a comprehensive overview of the genetic basis underlying endocrine diseases. It covers both the molecular and clinical consequences of these genetic defects, as well as the relevance for clinical care, highlighting issues of genetic counseling. Several endocrine diseases have a genetic background, and contemporary research in the field plays a crucial role in the clinical care of endocrine diseases. In recent years, there have been major developments in our understanding of the genetic basis of endocrine diseases. Several novel genes and mutations predisposing individuals to monogenic endocrine diseases have been discovered, and with the advent of next generation sequencing, a huge amount of new data has become available. Further, novel molecular mechanisms, such as genomic imprinting, have been implicated in the pathogenesis of endocrine diseases. A better understanding of the genetic background of these diseases is relevant not only from the research perspective, but also in terms of clinical care. As such, this book is an essential read for both researchers and clinicians working in the field.

Clinical Genomics

Author : Shashikant Kulkarni
Publisher : Academic Press
ISBN 13 : 0124051731
Total Pages : 489 pages
Book Rating : 4.1/5 (24 download)

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Book Synopsis Clinical Genomics by : Shashikant Kulkarni

Download or read book Clinical Genomics written by Shashikant Kulkarni and published by Academic Press. This book was released on 2014-11-10 with total page 489 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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

Cytogenomics

Author : Thomas Liehr
Publisher : Academic Press
ISBN 13 : 0128235802
Total Pages : 430 pages
Book Rating : 4.1/5 (282 download)

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Book Synopsis Cytogenomics by : Thomas Liehr

Download or read book Cytogenomics written by Thomas Liehr and published by Academic Press. This book was released on 2021-05-25 with total page 430 pages. Available in PDF, EPUB and Kindle. Book excerpt: Cytogenomics demonstrates that chromosomes are crucial in understanding the human genome and that new high-throughput approaches are central to advancing cytogenetics in the 21st century. After an introduction to (molecular) cytogenetics, being the basic of all cytogenomic research, this book highlights the strengths and newfound advantages of cytogenomic research methods and technologies, enabling researchers to jump-start their own projects and more effectively gather and interpret chromosomal data. Methods discussed include banding and molecular cytogenetics, molecular combing, molecular karyotyping, next-generation sequencing, epigenetic study approaches, optical mapping/karyomapping, and CRISPR-cas9 applications for cytogenomics. The book's second half demonstrates recent applications of cytogenomic techniques, such as characterizing 3D chromosome structure across different tissue types and insights into multilayer organization of chromosomes, role of repetitive elements and noncoding RNAs in human genome, studies in topologically associated domains, interchromosomal interactions, and chromoanagenesis. This book is an important reference source for researchers, students, basic and translational scientists, and clinicians in the areas of human genetics, genomics, reproductive medicine, gynecology, obstetrics, internal medicine, oncology, bioinformatics, medical genetics, and prenatal testing, as well as genetic counselors, clinical laboratory geneticists, bioethicists, and fertility specialists. - Offers applied approaches empowering a new generation of cytogenomic research using a balanced combination of classical and advanced technologies - Provides a framework for interpreting chromosome structure and how this affects the functioning of the genome in health and disease - Features chapter contributions from international leaders in the field