Clinical Genomics

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

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  • Author : Shashikant Kulkarni
  • Publisher : Academic Press
  • Pages : 488 pages
  • ISBN : 0124051731
  • Rating : 4/5 from 21 reviews
CLICK HERE TO GET THIS BOOKClinical Genomics

Clinical Genomics

Clinical Genomics
  • Author : Shashikant Kulkarni,John Pfeifer
  • Publisher : Academic Press
  • Release : 10 November 2014
GET THIS BOOKClinical Genomics

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

Clinical Genomics: Practical Applications for Adult Patient Care

Clinical Genomics: Practical Applications for Adult Patient Care
  • Author : Michael T. Murray,Mark Babyatski,Monica Giovanni
  • Publisher : McGraw Hill Professional
  • Release : 22 October 2013
GET THIS BOOKClinical Genomics: Practical Applications for Adult Patient Care

Convert the latest genomic data to the most effective patient management and treatment approaches Clinical Genomics helps healthcare providers translate the vast amount of new genomic data into successful clinical application. It is a comprehensive textbook and practical guide to the use of this information across a broad spectrum of adult diseases – from individual differences in drug responses, cardiac and cancer risks to Alzheimer's and other neurological and psychiatric disorders. While traditional textbooks on medical genetics focus on classic Mendelian

Handbook of Clinical Adult Genetics and Genomics

Handbook of Clinical Adult Genetics and Genomics
  • Author : Shweta Dhar,Sandesh Sreenath Chakravarthy Nagamani,Tanya Eble
  • Publisher : Academic Press
  • Release : 10 April 2020
GET THIS BOOKHandbook of Clinical Adult Genetics and Genomics

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,

Genomics, Circuits, and Pathways in Clinical Neuropsychiatry

Genomics, Circuits, and Pathways in Clinical Neuropsychiatry
  • Author : Thomas Lehner,Bruce L. Miller,Matthew W. State
  • Publisher : Academic Press
  • Release : 07 June 2016
GET THIS BOOKGenomics, Circuits, and Pathways in Clinical Neuropsychiatry

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

Clinical Ophthalmic Genetics and Genomics

Clinical Ophthalmic Genetics and Genomics
  • Author : Graeme C.M. Black,Jane L. Ashworth,Panagiotis I. Sergouniotis
  • Publisher : Academic Press
  • Release : 18 January 2022
GET THIS BOOKClinical Ophthalmic Genetics and Genomics

Clinical Ophthalmic Genetics and Genomics provides an accessible, clinically-focused reference for the evolving field of Genetic Ophthalmology. This well-organised, easy-to-read textbook integrates key concepts with clinical practice and is designed to enhance effective learning and retention of complex material. It includes contributions from recognised leaders in the field and provides expert guidance on the complete spectrum of genetic ophthalmic disorders. A structured introductory section offering a practical guide to the processes involved in diagnosing patients with genetic ophthalmic disorders Expert

Clinical Genome Sequencing

Clinical Genome Sequencing
  • Author : Aad Tibben,Barbara B. Biesecker
  • Publisher : Academic Press
  • Release : 30 March 2019
GET THIS BOOKClinical Genome Sequencing

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,

Clinical DNA Variant Interpretation

Clinical DNA Variant Interpretation
  • Author : Conxi Lázaro,Jordan Lerner-Ellis,Amanda Spurdle
  • Publisher : Academic Press
  • Release : 27 February 2021
GET THIS BOOKClinical DNA Variant Interpretation

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,

Precision Medicine: A Guide to Genomics in Clinical Practice

Precision Medicine: A Guide to Genomics in Clinical Practice
  • Author : Jeanette J. McCarthy,Bryce A. Mendelsohn
  • Publisher : McGraw Hill Professional
  • Release : 05 January 2017
GET THIS BOOKPrecision Medicine: A Guide to Genomics in Clinical Practice

Incorporate genomics into every applicable area of your clinical practice with this complete how-to guide Precision Medicine: A Guide to Genomics in Clinical Practice is a comprehensive, yet succinct overview of the practice of genomic medicine. It is written for general healthcare practitioners, specialists, and trainees with the goal of providing detailed guidance on how to incorporate genomic medicine into daily practice. Features that make this book valuable to every practice: •Intentionally avoids excessive technical content and consistently emphasizes real-life

Medical and Health Genomics

Medical and Health Genomics
  • Author : Dhavendra Kumar,Stylianos Antonarakis
  • Publisher : Academic Press
  • Release : 04 June 2016
GET THIS BOOKMedical and Health Genomics

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

Clinical Genomics: Practical Applications for Adult Patient Care

Clinical Genomics: Practical Applications for Adult Patient Care
  • Author : Michael T. Murray, MD,Mark Babyatski, MD
  • Publisher : McGraw Hill Professional
  • Release : 07 November 2013
GET THIS BOOKClinical Genomics: Practical Applications for Adult Patient Care

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

Omics in Clinical Practice

Omics in Clinical Practice
  • Author : Yu Liu
  • Publisher : CRC Press
  • Release : 20 June 2014
GET THIS BOOKOmics in Clinical Practice

This book serves as an introduction to genomics, proteomics, and transcriptomics, putting these fields in relation to human disease and ailments. The various chapters consider the role of translation and personalized medicine, as well as pathogen detection, evolution, and infection, in relation to genomics, proteomics, and transcriptomics. The topic of companion diagnostics is also covered. The book is broken into five sections. Part I examines the connection between omics and human disease. Part II looks at the applications for the

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

Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics
  • Author : Reed E. Pyeritz,Bruce R. Korf,Wayne W. Grody
  • Publisher : Academic Press
  • Release : 20 November 2018
GET THIS BOOKEmery and Rimoin’s Principles and Practice of Medical Genetics and Genomics

For decades, Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics has served as the ultimate resource for clinicians integrating genetics into medical practice. With detailed coverage in contributions from over 250 of the world’s most trusted authorities in medical genetics and a series of 11 volumes available for individual sale, the Seventh Edition of this classic reference includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling,

Genomics and Clinical Medicine

Genomics and Clinical Medicine
  • Author : Dhavendra Kumar,David Weatherall
  • Publisher : Oxford University Press
  • Release : 15 February 2008
GET THIS BOOKGenomics and Clinical Medicine

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,