Clinical Genomics Books

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Clinical Genomics


Clinical Genomics
  • Author : Shashikant Kulkarni
  • Publisher : Academic Press
  • Release : 2014-11-10
  • ISBN : 9780124051737
  • Language : En, Es, Fr & De
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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


Clinical Genomics  Practical Applications for Adult Patient Care
  • Author : Michael T. Murray
  • Publisher : McGraw Hill Professional
  • Release : 2013-10-22
  • ISBN : 9780071810593
  • Language : En, Es, Fr & De
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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 disorders, Clinical Genomics discusses the everyday application of genetic assessment and the diagnostic, therapeutic, and preventive implications to the most common adult diseases that healthcare providers encounter. Covering approximately 200 conditions, it is a true clinical text for use across all of internal medicine. Coverage of each condition is presented in a consistent, clinically relevant manner and includes: Key Points Diagnostic Criteria and Clinical Characteristics Screening and C ounseling Management and Treatment Molecular Genetics and Molecular Mechanism Supplementary Information More than ten valuable appendices, include Genetic Privacy; Race, Ancestry, and Genetics; Personalized Medicine in Clinical Practice; Clinical Interpretation of Genomic Data; and Genetic Risk Profiling in the Genomics Era. Clinical Genomics is essential for internists, primary care physicians, and other healthcare providers who wish to increase their knowledge of the gene-and-protein level care of patients in a clinical setting.

Handbook of Clinical Adult Genetics and Genomics


Handbook of Clinical Adult Genetics and Genomics
  • Author : Shweta Dhar
  • Publisher : Academic Press
  • Release : 2020-04-10
  • ISBN : 9780128173459
  • Language : En, Es, Fr & De
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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 Circuits and Pathways in Clinical Neuropsychiatry


Genomics  Circuits  and Pathways in Clinical Neuropsychiatry
  • Author : Thomas Lehner
  • Publisher : Academic Press
  • Release : 2016-06-07
  • ISBN : 9780128005309
  • Language : En, Es, Fr & De
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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 Genomics


Clinical Genomics
  • Author : Shashikant Kulkarni
  • Publisher : Academic Press
  • Release : 2014-11-10
  • ISBN : 9780124051737
  • Language : En, Es, Fr & De
GET BOOK

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