Clinical Genomics

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Clinical Genomics

Shashikant Kulkarni,John Pfeifer
Clinical Genomics Book PDF

Author : Shashikant Kulkarni,John Pfeifer
Publisher : Academic Press
Page : 488 pages
File Size : 49,8 Mb
Release : 2014-11-10
Category : Science
ISBN : 9780124051737

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Clinical Genomics by Shashikant Kulkarni,John Pfeifer Pdf

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

Clinical Genomics: Practical Applications for Adult Patient Care

Michael F. Murray (Physician),Mark Babyatski, MD,Monica A. Giovanni,Fowzan S. Alkuraya,Douglas R. Stewart
Clinical Genomics Practical Applications for Adult Patient Care Book PDF

Author : Michael F. Murray (Physician),Mark Babyatski, MD,Monica A. Giovanni,Fowzan S. Alkuraya,Douglas R. Stewart
Publisher : McGraw Hill Professional
Page : 960 pages
File Size : 47,7 Mb
Release : 2013-11-07
Category : Medical
ISBN : 9780071622448

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Clinical Genomics: Practical Applications for Adult Patient Care by Michael F. Murray (Physician),Mark Babyatski, MD,Monica A. Giovanni,Fowzan S. Alkuraya,Douglas R. Stewart Pdf

The first book on the clinical application of genetics in primary care medicine, Clinical Genomics focuses on the everyday application of genetic assessment and its diagnostic, therapeutic, and preventive implications in clinical practice. Unlike traditional textbooks on medical genetics and dysmorphology, this is a clinical reference that covers many of the common diseases seen in everyday medical practice. Features: endorsed by the American College of Physicians; addresses the genetic basis of common chronic diseases, not just the classic diseases of dysmorphology.

Clinical Ophthalmic Genetics and Genomics

Graeme C.M. Black,Jane L. Ashworth,Bart P. Leroy,Panagiotis I. Sergouniotis
Clinical Ophthalmic Genetics and Genomics Book PDF

Author : Graeme C.M. Black,Jane L. Ashworth,Bart P. Leroy,Panagiotis I. Sergouniotis
Publisher : Elsevier
Page : 490 pages
File Size : 47,6 Mb
Release : 2022-01-20
Category : Medical
ISBN : 9780128139448

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Clinical Ophthalmic Genetics and Genomics by Graeme C.M. Black,Jane L. Ashworth,Bart P. Leroy,Panagiotis I. Sergouniotis Pdf

Practical Genomics for Clinical Ophthalmology provides in-depth coverage of the clinical applications of genomics in eye disease, with a key emphasis on case-study based instruction in patient care and genetic counseling aspects, genetic and genomic diagnostics, and treatment pathways. The book presents the latest information on genetic and genomic test results, best practices for delivery of results to patients and families, and ongoing research into therapeutics, with specific chapters covering non-syndromic inherited retinal disease, syndromic IRD, vitreoretinopathies, lens abnormalities, corneal disease, albinism, anterior segment dysgenesis, glaucoma, developmental eye abnormalities, nystagmus, ocular motility disorders, optic neuropathies, phacomatoses, and retinoblastoma, and more. In addition, clinical case studies illustrate examples of common genetic eye disorders and highlight vital learning points for the reader. Presents the work of leading international researchers and clinicians who speak in-depth on the clinical applications of genomics in diagnosis and treatment of eye disease Provides full-color, richly illustrated chapters that cover current genetic and genomic testing methods employed in ophthalmology Includes instructions on the diagnosis and treatment of a wide range of conditions, including non-syndromic inherited retinal disease, syndromic IRD, vitreoretinopathies, lens abnormalities, corneal disease, albinism, anterior segment dysgenesis, glaucoma, and more Contains case studies that illustrate common genetic eye disorders and highlight vital learning points for the reader

Oxford Desk Reference

Helen V. Firth,Jane A. Hurst,Judith G. Hall
Oxford Desk Reference Book PDF

Author : Helen V. Firth,Jane A. Hurst,Judith G. Hall
Publisher : Oxford University Press, USA
Page : 708 pages
File Size : 44,5 Mb
Release : 2005
Category : Medical
ISBN : 0192628968

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Oxford Desk Reference by Helen V. Firth,Jane A. Hurst,Judith G. Hall Pdf

Judith G. Hall is a 2011 Fellow of The Royal Society of Canada. The first in a brand new series of easy-to-use guides, this book is set to become the bible for clinical consultation in genetics. It covers the process of diagnosis, investigation, management, and counselling for patients. Most of the topics fit onto a double-page spread ensuring that the book is an accessible, quick reference for the clinic or hospital consultation. Where available, diagnostic criteria for specific conditions are included as well as contact details for support groups. The book is well illustrated and has an up-to-date bibliography and glossaries of terms used in genetics and dysmorphology. The authors have used their experience to devise a practical clinical approach to many common genetic referrals, both out patient and ward based. The most common Mendelian disorders, chromosomal disorders, congenital anomalies and syndromes are all covered. In addition there are chapters on familial cancer and pregnancy-related topics such as foetal anomalies, teratogens, prenatal and pre-implantation diagnosis. The book also provides information on the less common situations, where management is particularly complex, or important genetic concepts are illustrated.

Genomics, Circuits, and Pathways in Clinical Neuropsychiatry

Thomas Lehner,Bruce L. Miller,Matthew W. State
Genomics Circuits and Pathways in Clinical Neuropsychiatry Book PDF

Author : Thomas Lehner,Bruce L. Miller,Matthew W. State
Publisher : Academic Press
Page : 796 pages
File Size : 41,5 Mb
Release : 2016-06-07
Category : Science
ISBN : 9780128005309

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Genomics, Circuits, and Pathways in Clinical Neuropsychiatry by Thomas Lehner,Bruce L. Miller,Matthew W. State Pdf

This foundational work comprehensively examines the current state of the genetics, genomics and brain circuitry of psychiatric and neurological disorders. It consolidates discoveries of specific genes and genomic regions associated with these conditions, the genetic and anatomic architecture of these syndromes, and addresses how recent advances in genomics are leading to a reappraisal of the biology underlying clinical neuroscience. In doing so, it critically examines the promise and limitations of these discoveries toward treatment, and to the interdisciplinary nature of understanding brain and behavior. Coverage includes new discoveries regarding autism, epilepsy, intellectual disability, dementias, movement disorders, language impairment, disorders of attention, schizophrenia, and bipolar disorder. Genomics, Circuits, and Pathways in Clinical Neuropsychiatry focuses on key concepts, challenges, findings, and methods in genetics, genomics, molecular pathways, brain circuitry, and related neurobiology of neurologic and psychiatric disorders. Provides interdisciplinary appeal in psychiatry, neurology, neuroscience, and genetics Identifies key concepts, methods, and findings Includes coverage of multiple disorders from autism to schizophrenia Reviews specific genes associated with disorders Discusses the genetic architecture of these syndromes Explains how recent findings are influencing the understanding of biology Clarifies the promise of these findings for future treatment

Clinical Precision Medicine

Judy S. Crabtree
Clinical Precision Medicine Book PDF

Author : Judy S. Crabtree
Publisher : Academic Press
Page : 114 pages
File Size : 54,6 Mb
Release : 2019-11-15
Category : Medical
ISBN : 9780128204023

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Clinical Precision Medicine by Judy S. Crabtree Pdf

Clinical Precision Medicine: A Primer offers clinicians, researchers and students a practical, up-to-date resource on precision medicine, its evolving technologies, and pathways towards clinical implementation. Early chapters address the fundamentals of molecular biology and gene regulation as they relate to precision medicine, as well as the foundations of heredity and epigenetics. Oncology, an early adopter of precision approaches, is considered with its relationship to genetic variation in drug metabolism, along with tumor immunology and the impact of DNA variation in clinical care. Contributions by Stephanie Kramer, a Clinical Genetic Counselor, also provide current information on prenatal diagnostics and adult genetics that highlight the critical role of genetic counselors in the era of precision medicine. Includes applied discussions of chromosomes and chromosomal abnormalities, molecular genetics, epigenetic regulation, heredity, clinical genetics, pharmacogenomics and immunogenomics Features chapter contributions from leaders in the field Consolidates fundamental concepts and current practices of precision medicine in one convenient resource

Medical and Health Genomics

Dhavendra Kumar,Stylianos Antonarakis
Medical and Health Genomics Book PDF

Author : Dhavendra Kumar,Stylianos Antonarakis
Publisher : Academic Press
Page : 358 pages
File Size : 52,8 Mb
Release : 2016-06-04
Category : Science
ISBN : 9780127999227

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Medical and Health Genomics by Dhavendra Kumar,Stylianos Antonarakis Pdf

Medical and Health Genomics provides concise and evidence-based technical and practical information on the applied and translational aspects of genome sciences and the technologies related to non-clinical medicine and public health. Coverage is based on evolving paradigms of genomic medicine—in particular, the relation to public and population health genomics now being rapidly incorporated in health management and administration, with further implications for clinical population and disease management. Provides extensive coverage of the emergent field of health genomics and its huge relevance to healthcare management Presents user-friendly language accompanied by explanatory diagrams, figures, and many references for further study Covers the applied, but non-clinical, sciences across disease discovery, genetic analysis, genetic screening, and prevention and management Details the impact of clinical genomics across a diverse array of public and community health issues, and within a variety of global healthcare systems

Clinical Genome Sequencing

Aad Tibben,Barbara B. Biesecker
Clinical Genome Sequencing Book PDF

Author : Aad Tibben,Barbara B. Biesecker
Publisher : Academic Press
Page : 0 pages
File Size : 42,9 Mb
Release : 2019-04-03
Category : Medical
ISBN : 012813335X

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Clinical Genome Sequencing by Aad Tibben,Barbara B. Biesecker Pdf

Clinical Genome Sequencing: Psychological Aspects thoroughly details key psychological factors to consider while implementing genome sequencing in clinical practice, taking into account the subtleties of genetic risk assessment, patient consent and best practices for sharing genomic findings. Chapter contributions from leading international researchers and practitioners cover topics ranging from the current state of genomic testing, to patient consent, patient responses to sequencing data, common uncertainties, direct-to-consumer genomics, the role of genome sequencing in precision medicine, genetic counseling and genome sequencing, genome sequencing in pediatrics, genome sequencing in prenatal testing, and ethical issues in genome sequencing. Applied clinical case studies support concept illustration, making this an invaluable, practical reference for this important and multifaceted topic area within genomic medicine.

Clinical Genetics and Genomics of Aging

Juan Carlos Gomez-Verjan,Nadia Alejandra Rivero-Segura
Clinical Genetics and Genomics of Aging Book PDF

Author : Juan Carlos Gomez-Verjan,Nadia Alejandra Rivero-Segura
Publisher : Springer
Page : 0 pages
File Size : 43,7 Mb
Release : 2021-04-14
Category : Medical
ISBN : 3030409570

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Clinical Genetics and Genomics of Aging by Juan Carlos Gomez-Verjan,Nadia Alejandra Rivero-Segura Pdf

The world population is rapidly aging—it is estimated that by 1950, around 17% of the population will be elderly. In this context, aging involves several physiological, psychological and highly complex social processes that vary from one person to another. For a long time, medical care for older adults has focused on treating chronic, age-related diseases and their associated consequences. Recently, biomedical research brings a novel point of view to develop more effective interventions by targeting the aging process itself rather than separate conditions. There is a growing number of reports indicating that aging is driven by several interconnected mechanisms and biological components referred to as the molecular pillars of aging. Interfering with these mechanisms could help to treat, prevent, and understand the development of age-related diseases and associated syndromes. This book provides a clinical perspective and general update on biomedical and genetic research in aging, moving from an update in the molecular pillars of aging to a perspective of the most recent pharmacological, clinical, and diagnostic applications using genomic approaches and techniques. While this book focuses on the specifics of genetics and genomics, it also adopts a clinical perspective of geroscience, which seeks to understand the genetic, molecular and cellular mechanisms that make aging an important risk factor and, sometimes, a determining factor in the diseases and common chronic conditions of older people. Additionally, Clinical Genetics and Genomics of Aging is a significant contribution to support aging research, as it shows that collaboration across disciplines is relevant to progress in the field. As more and more people benefit from increased longevity, clinician and researchers will be empowered by this knowledge to contribute to the progress of aging research.

Genomics and Pharmacogenomics in Anticancer Drug Development and Clinical Response

Federico Innocenti
Genomics and Pharmacogenomics in Anticancer Drug Development and Clinical Response Book PDF

Author : Federico Innocenti
Publisher : Springer Science & Business Media
Page : 379 pages
File Size : 50,6 Mb
Release : 2008-10-30
Category : Medical
ISBN : 9781603270885

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Genomics and Pharmacogenomics in Anticancer Drug Development and Clinical Response by Federico Innocenti Pdf

Genomics and Pharmacogenomics in Anticancer Drug Development and Clinical Response provides the most comprehensive body of knowledge available on the role of genetic and genomic variation in the individualization of drug therapies in cancer patients. As a consequence of the intrinsic chromosomal and genetic instability of the tumor genome, it is generally believed that tailoring of chemotherapy in cancer - tients might be achieved by molecular analysis of patient tumor DNA. In addition, to reduce the toxicity risk of patients, the tumor DNA information should be in- grated with the available data on polymorphic drug-metabolizing enzyme and tra- porter genes mediating the exposure of patients to active drugs and/or their active metabolites. The chapters of this book clearly show how DNA information from both the host (germline) and the tumor should be taken into account for rational selection of drug therapies in cancer patients, an aspect that received little attention, despite its importance. The availability of new molecular approaches to the selection of drug therapy is an emerging need, because the traditional approach based on the evaluation of patient and tumor characteristics is clearly far from optimal. Many treated patients do not experience signi?cant bene?ts from the treatment, while they often experience moderate to severe toxicities. In addition, the development and clinical use of novel molecularly targeted agents (alone or in combination with classical cytotoxic therapy) requires the und- standing of the molecular features of the tumors and the identi?cation of tumor markers of response.

Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics

Reed E. Pyeritz,Bruce R. Korf,Wayne W. Grody
Emery and Rimoin s Principles and Practice of Medical Genetics and Genomics Book PDF

Author : Reed E. Pyeritz,Bruce R. Korf,Wayne W. Grody
Publisher : Academic Press
Page : 320 pages
File Size : 55,8 Mb
Release : 2021-11-02
Category : Science
ISBN : 9780128152379

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Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics by Reed E. Pyeritz,Bruce R. Korf,Wayne W. Grody Pdf

Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Perinatal and Reproductive Genetics, Seventh Edition includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies in this growing field. The book is ideal for medical students, residents, physicians and researchers involved in the care of patients with genetic conditions. This comprehensive, yet practical resource emphasizes theory and research fundamentals related to applications of medical genetics across the full spectrum of inherited disorders and applications to medicine more broadly. Chapters from leading international researchers and clinicians focus on topics ranging from single gene testing to whole genome sequencing, whole exome sequencing, gene therapy, genome editing approaches, FDA regulations on genomic testing and therapeutics, and ethical aspects of employing genomic technologies. Fully revised and up-to-date, this new edition introduces genetic researchers, students and healthcare professionals to genomic technologies, testing and therapeutic applications Examines key topics and developing methods within genomic testing and therapeutics, including single gene testing, whole genome and whole exome sequencing, gene therapy and genome editing, variant Interpretation and classification, and ethical aspects of applying genomic technologies Includes color images that support the identification, concept illustration, and method of processing Features contributions by leading international researchers and practitioners of medical genetics Provides a robust companion website that offers further teaching tools and links to outside resources and articles to stay up-to-date on the latest developments in the field

Genomics and Clinical Medicine

Dhavendra Kumar,David Weatherall
Genomics and Clinical Medicine Book PDF

Author : Dhavendra Kumar,David Weatherall
Publisher : Oxford University Press
Page : 672 pages
File Size : 43,8 Mb
Release : 2008-02-15
Category : Medical
ISBN : 0199720053

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Genomics and Clinical Medicine by Dhavendra Kumar,David Weatherall Pdf

An important milestone in medicine has been the recent completion of the Human Genome Project. The identification of 30,000 genes and their regulatory proteins provides the framework for understanding the metabolic basis of disease. This advance has also laid the foundation for a broad range of genomic tools that have opened the way for targeted genetic testing in a number of medical disorders. This book is designed to be the first major text to discuss genomics-based advances in disease susceptibility, diagnosis, prognostication,and prediction of treatment outcomes in various areas of medicine. After building a strong underpinning in the basic concepts of genomics, the authors of this book, all leaders in the field, proceed to discuss a wide range of clinical areas and the applications now afforded by genomic analysis.

Clinical DNA Variant Interpretation

Conxi Lázaro,Jordan Lerner-Ellis,Amanda Spurdle
Clinical DNA Variant Interpretation Book PDF

Author : Conxi Lázaro,Jordan Lerner-Ellis,Amanda Spurdle
Publisher : Academic Press
Page : 436 pages
File Size : 51,5 Mb
Release : 2021-02-27
Category : Medical
ISBN : 9780128205204

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Clinical DNA Variant Interpretation by Conxi Lázaro,Jordan Lerner-Ellis,Amanda Spurdle Pdf

Clinical DNA Variant Interpretation: Theory and Practice, a new volume in the Translational and Applied Genomics series, covers foundational aspects, modes of analysis, technology, disease and disorder specific case studies, and clinical integration. This book provides a deep theoretical background, as well as applied case studies and methodology, enabling researchers, clinicians and healthcare providers to effectively classify DNA variants associated with disease and patient phenotypes. Practical chapters discuss genomic variant interpretation, terminology and nomenclature, international consensus guidelines, population allele frequency, functional evidence transcripts for RNA, proteins, and enzymes, somatic mutations, somatic profiling, and much more. Compiles best practices, methods and sound evidence for DNA variant classification in one applied volume Features chapter contributions from international leaders in the field Includes practical examples of variant classification for common and rare disorders, and across clinical phenotypes

Handbook of Clinical Adult Genetics and Genomics

Shweta Dhar,Sandesh Sreenath Chakravarthy Nagamani,Tanya Eble
Handbook of Clinical Adult Genetics and Genomics Book PDF

Author : Shweta Dhar,Sandesh Sreenath Chakravarthy Nagamani,Tanya Eble
Publisher : Academic Press
Page : 530 pages
File Size : 45,7 Mb
Release : 2020-04-10
Category : Science
ISBN : 9780128173459

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Handbook of Clinical Adult Genetics and Genomics by Shweta Dhar,Sandesh Sreenath Chakravarthy Nagamani,Tanya Eble Pdf

Handbook of Clinical Adult Genetics and Genomics: A Practice-Based Approach provides a thorough overview of genetic disorders that are commonly encountered in adult populations and supports the full translation of adult genetic and genomic modalities into clinical practice. Expert chapter authors supplement foundational knowledge with case-based strategies for the evaluation and management of genetic disorders in each organ system and specialty area. Topics discussed include employing genetic testing technologies, reporting test results, genetic counseling for adult patients, medical genetics referrals, issues of complex inheritance, gene therapy, and diagnostic and treatment criteria for developmental, cardiovascular, gastrointestinal, neuropsychiatric, pulmonary issues, and much more. Employs clinical case studies to demonstrate how to evaluate, diagnosis and treat adult patients with genetic disorders Offers a practical framework for establishing an adult genetics clinic, addressing infrastructure, billing, counseling, and challenges unique to adult clinical genetics Features chapter contributions from authors at leading adult genetics institutions in the US and abroad

Genomics

Hans C. Andersson, MD,Whitney Stewart
Genomics Book PDF

Author : Hans C. Andersson, MD,Whitney Stewart
Publisher : Millbrook Press
Page : 139 pages
File Size : 42,6 Mb
Release : 2020-09-01
Category : Young Adult Nonfiction
ISBN : 9781728411583

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Genomics by Hans C. Andersson, MD,Whitney Stewart Pdf

Over the past 50 years, scientists have made incredible progress in the application of genetic research to human health care and disease treatment. Innovative tools and techniques, including gene therapy and CRISPR-Cas9 editing, can treat inherited disorders that were previously untreatable, or prevent them from happening in the first place. You can take a DNA test to learn where your ancestors are from. Police officers can use genetic evidence to identify criminals—or innocents. And some doctors are using new medical techniques for unprecedented procedures. Genomics: A Revolution in Health and Disease Discovery delves into the history, science, and ethics behind recent breakthroughs in genetic research. Authors Whitney Stewart and Hans Andersson, MD, present fascinating case studies that show how real people have benefitted from genetic research. Though the genome remains full of mysteries, researchers and doctors are working hard to uncover its secrets and find the best ways to treat patients and cure diseases. The discoveries to come will inform how we target disease treatment, how we understand our health, and how we define our very identities.