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Clinical Genome Sequencing

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Clinical Genome Sequencing

Clinical Genome Sequencing Book
Author : Aad Tibben,Barbara B. Biesecker
Publisher : Academic Press
Release : 2019-03-30
ISBN : 0128133368
Language : En, Es, Fr & De

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Book Description :

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. Features contributions from leading international researchers and practitioners versed in the psychosocial dimensions of genomic medicine implementation Presents clinical case studies that support concept illustration, making this an invaluable reference for students, researchers, and clinicians looking for practical guidance in this important and multifaceted topic area Details the current state of genomic testing, expectations of genome sequencing, patient consent, patient responses to sequencing data, uncertainties in genome sequencing, direct-to-consumer genome sequencing, and more

Clinical Genomics

Clinical Genomics Book
Author : Shashikant Kulkarni,John Pfeifer
Publisher : Academic Press
Release : 2014-11-10
ISBN : 0124051731
Language : En, Es, Fr & De

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Book Description :

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

Departments of Labor Health and Human Services Education and Related Agencies Appropriations for 2013

Departments of Labor  Health and Human Services  Education  and Related Agencies Appropriations for 2013 Book
Author : United States. Congress. House. Committee on Appropriations. Subcommittee on the Departments of Labor, Health and Human Services, Education, and Related Agencies
Publisher : Unknown
Release : 2012
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download Departments of Labor Health and Human Services Education and Related Agencies Appropriations for 2013 book written by United States. Congress. House. Committee on Appropriations. Subcommittee on the Departments of Labor, Health and Human Services, Education, and Related Agencies, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Clinical Implementation of Next generation Sequencing Technologies in France and Quebec

Clinical Implementation of Next generation Sequencing Technologies in France and Quebec Book
Author : Gabrielle Bertier
Publisher : Unknown
Release : 2019
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

"The decreasing cost of next-generation sequencing (NGS) technologies has resulted in their increased use in research, and in the clinical context. Indeed, the correct interpretation of a human genome can enable better prevention, diagnosis and treatment strategies. Significant public investments in NGS have been made in developed nations to realise the promise of personalized medicine. Yet, today the sequencing and analysis of a patient's exome or genome is only offered as a clinical test in a few clinics around the world. France and Quebec have made sizable investments in genomics research, and France announced the launch of a genomic medicine plan in 2016. However, policy decisions still have to be made on the nation-wide clinical implementation of NGS technologies in both jurisdictions. Therefore, this project's objective was to contribute to the body of evidence available to policymakers in France and Quebec on the clinical implementation of NGS technologies. We focused our attention on two specific NGS technologies, namely Whole Genome Sequencing (WGS), and Whole Exome Sequencing (WES). We specifically aimed to assess if the responsible and efficient use of WES/WGS data in the context of clinical care could be impeded by policy gaps. Currently, the clinical interpretation of a patient's genome sequence data is done through the intervention of many stakeholders including basic science researchers. These researchers use bioinformatics tools, processes and norms developed for research to filter and analyse patients NGS data. In parallel, existing regulatory and normative frameworks have been developed for the use of genetic data, and include no clear definition of genomic data or genomic technologies. We hypothesised that these elements create a strong need for standardization of practices, and may require adaptations of current regulatory and normative frameworks to the context of NGS. We therefore aimed to answer three research questions: (1) What issues do technology users experience and foresee when using WES data to inform patient care? To answer this, we performed a systematic review of the literature.(2) How are patients' NGS data currently managed (produced, analysed, interpreted and shared) in clinical institutions in Quebec and in France? We answered this by performing a case studies analysis, interrogating key stakeholders directly involved in managing patients' NGS data in France and Quebec. (3) Are there gaps in the current regulatory and normative frameworks which should be addressed to enable a responsible and efficient standardized use of NGS data in the clinic? To answer this, we performed a narrative review of the currently applicable normative frameworks in France and in Quebec.In our systematic literature review, we identified 23 distinct challenges linked to the production, analysis, reporting and sharing of patients' WES data. We also found that technology users were calling for practices to be more standardized before NGS was offered as a clinical test, and that numerous infrastructural adjustments had to be made in order for healthcare institutions to accommodate the vase amounts of highly complex NGS data. Through our case study analysis, we showed that in addition to managing the various levels of complexities of producing, analysing and sharing complex NGS data, a significant buy-in from numerous stakeholders was necessary in order to offer clinical genomics to patients. At the National level, this cannot be done without a strong political will. Finally, through our normative frameworks analysis, we concluded that existing frameworks were highly protective of patients and research participants, and could need marginal adjustments in order to accommodate for NGS tests. However, we also concluded that clinical genomics could not be realized without political will, and sustained monetary and infrastructural investments, which are only partly present at the moment in France and Quebec." --

Oxford Desk Reference Clinical Genetics and Genomics

Oxford Desk Reference  Clinical Genetics and Genomics Book
Author : Helen V. Firth,Jane A. Hurst
Publisher : Oxford University Press
Release : 2017
ISBN : 0199557500
Language : En, Es, Fr & De

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Book Description :

Preceded by Oxford desk reference. Clinical genetics / Helen V. Firth, Jane A. Hurst, with Judith G. Hall (consulting editor). 2005.

Clinical DNA Variant Interpretation

Clinical DNA Variant Interpretation Book
Author : Conxi Lázaro,Jordan Lerner-Ellis,Amanda Spurdle
Publisher : Academic Press
Release : 2021-02-27
ISBN : 0128205202
Language : En, Es, Fr & De

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Book Description :

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

Exome Sequence Analysis and Interpretation

Exome Sequence Analysis and Interpretation Book
Author : Vinod Scaria,Sridhar Sivasubbu
Publisher : Research in Genomics
Release : 2015-02-11
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

A concise handbook on exome sequencing for clinicians and clinical geneticists.

Genomic and Personalized Medicine

Genomic and Personalized Medicine Book
Author : Geoffrey S. Ginsburg,Huntington F. Willard
Publisher : Academic Press
Release : 2012-11-15
ISBN : 0123822270
Language : En, Es, Fr & De

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Book Description :

This two-volume set provides an in-depth look at one of the most promising avenues for advances in the diagnosis, prevention and treatment of human disease. The inclusion of the latest information on diagnostic testing, population screening, predicting disease susceptibility, pharmacogenomics and more presents this book as an essential tool for both students and specialists across many biological and medical disciplines, including human genetics and genomics, oncology, neuroscience, cardiology, infectious disease, molecular medicine, and biomedical science, as well as health policy disciplines focusing on ethical, legal, regulatory and economic aspects of genomics and medicine. Volume One Includes: Principles, Methodology and Translational Approaches, takes readers on the journey from principles of human genomics to technology, informatic and computational platforms for genomic medicine, as well as strategies for translating genomic discoveries into advances in personalized clinical care. Volume Two Includes: Genome Discoveries and Clinical Applications presents the latest developments in disease-based genomic and personalized medicine. With chapters dedicated to cardiovascular disease, oncology, inflammatory disease, metabolic disease, neuropsychiatric disease, and infectious disease, this work provides the most comprehensive guide to the principles and practice of genomic and personalized medicine. * Contributions from leaders in the field provide unparalleled insight into current technologies and applications in clinical medicine. * Full colour throughout enhances the utility of this work as the only available comprehensive reference for genomic and personalized medicine. * Discusses scientific foundations and practical applications of new discoveries, as well as ethical, legal/regulatory, and social issues related to the practice of genomic medicine.

Genome Sequencing Technology and Algorithms

Genome Sequencing Technology and Algorithms Book
Author : Sun Kim,Haixu Tang,Elaine Mardis
Publisher : Artech House Publishers
Release : 2008
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

The 2003 completion of the Human Genome Project was just one step in the evolution of DNA sequencing. This trailblazing work gives researchers unparalleled access to state-of-the-art DNA sequencing technologies, new algorithmic sequence assembly techniques, and emerging methods for both resequencing and genome analysis.

Essentials of Medical Genomics

Essentials of Medical Genomics Book
Author : Stuart M. Brown,John G. Hay,Harry Ostrer
Publisher : John Wiley & Sons
Release : 2008-12-29
ISBN : 0470334495
Language : En, Es, Fr & De

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Book Description :

Six new chapters on vital topics of interest such as multilocus SNP genotyping (SNP chips), RNAi, ChIP-chip, and genomic tiling arrays New edition responds to reviewers' and users' desire for greater coverage—now the most useful handbook on the market! Practical, concise summary of everything about genomics and emerging technologies a busy physician or medical student should know Covers concepts and techniques that are in use in medicine now, as well as those on the cutting-edge of science relevant to medicine, from bioinformatics to DNA diagnostics and proteomics NEW: Includes chapter-end exercises, enhancing the utility of the new edition as a textbook NEW: PowerPoint slides of images available at instructor website

The Genome Odyssey

The Genome Odyssey Book
Author : Dr. Euan Angus Ashley
Publisher : Celadon Books
Release : 2021-02-23
ISBN : 1250234972
Language : En, Es, Fr & De

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Book Description :

In The Genome Odyssey, Dr. Euan Ashley, Stanford professor of medicine and genetics, brings the breakthroughs of precision medicine to vivid life through the real diagnostic journeys of his patients and the tireless efforts of his fellow doctors and scientists as they hunt to prevent, predict, and beat disease. Since the Human Genome Project was completed in 2003, the price of genome sequencing has dropped at a staggering rate. It’s as if the price of a Ferrari went from $350,000 to a mere forty cents. Through breakthroughs made by Dr. Ashley’s team at Stanford and other dedicated groups around the world, analyzing the human genome has decreased from a heroic multibillion dollar effort to a single clinical test costing less than $1,000. For the first time we have within our grasp the ability to predict our genetic future, to diagnose and prevent disease before it begins, and to decode what it really means to be human. In The Genome Odyssey, Dr. Ashley details the medicine behind genome sequencing with clarity and accessibility. More than that, with passion for his subject and compassion for his patients, he introduces readers to the dynamic group of researchers and doctor detectives who hunt for answers, and to the pioneering patients who open up their lives to the medical community during their search for diagnoses and cures. He describes how he led the team that was the first to analyze and interpret a complete human genome, how they broke genome speed records to diagnose and treat a newborn baby girl whose heart stopped five times on the first day of her life, and how they found a boy with tumors growing inside his heart and traced the cause to a missing piece of his genome. These patients inspire Dr. Ashley and his team as they work to expand the boundaries of our medical capabilities and to envision a future where genome sequencing is available for all, where medicine can be tailored to treat specific diseases and to decode pathogens like viruses at the genomic level, and where our medical system as we know it has been completely revolutionized.

Hastings Law Journal

Hastings Law Journal Book
Author : Anonim
Publisher : Unknown
Release : 2012
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download Hastings Law Journal book written by , available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

The Hastings Law Journal

The Hastings Law Journal Book
Author : Anonim
Publisher : Unknown
Release : 2013
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download The Hastings Law Journal book written by , available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

The 1 000 Genome

The  1 000 Genome Book
Author : Kevin Davies
Publisher : Simon and Schuster
Release : 2010-09-07
ISBN : 9781416570189
Language : En, Es, Fr & De

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Book Description :

In 2000, President Bill Clinton signaled the completion of the Human Genome Project at a cost in excess of $2 billion. A decade later, the price for any of us to order our own personal genome sequence—a comprehensive map of the 3 billion letters in our DNA—is rapidly and inevitably dropping to just $1,000. Dozens of men and women—scientists, entrepreneurs, celebrities, and patients—have already been sequenced, pioneers in a bold new era of personalized genomic medicine. The $1,000 genome has long been considered the tipping point that would open the floodgates to this revolution. Do you have gene variants associated with Alzheimer’s or diabetes, heart disease or cancer? Which drugs should you consider taking for various diseases, and at what dosage? In the years to come, doctors will likely be able to tackle all of these questions—and many more—by using a computer in their offices to call up your unique genome sequence, which will become as much a part of your medical record as your blood pressure. Indeed, many experts are advocating that all newborns have a complete genome analysis done so that preventive measures and preemptive medicine can begin early in life. How has this astonishing achievement been accomplished? And what will it mean for our lives? To research the story of this unfolding revolution, critically acclaimed science writer Kevin Davies has spent the past few years traveling to the leading centers and interviewing the entrepreneurs and pioneers in the race to achieve the $1,000 genome. He vividly brings to life the extraordinary drama of this grand scientific achievement, revealing the masterful ingenuity that has transformed the process of decoding DNA and delivering the information it possesses to the public at large. Davies also profiles the future of genomic medicine and thoughtfully explores the many pressing issues raised by the tidal wave of personal genetic information. Will your privacy be protected? Will you be pressured, by insurance companies or by your employer, to get your genome sequenced? What psychological toll might there be to discovering you are at risk for certain diseases like Alzheimer’s? And will the government or the medical establishment come between you and your genome? One thing that is not in question is that we are moving swiftly into the personalized medicine era, and The $1,000 Genome is an essential guide to this brave new future.

Genetic Diversity of Mycobacterium Tuberculosis PE PGRS Genes and Its Clinical and Epidemiological Relevance

Genetic Diversity of Mycobacterium Tuberculosis PE PGRS Genes and Its Clinical and Epidemiological Relevance Book
Author : Sarah Elizabeth Talarico
Publisher : Unknown
Release : 2007
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download Genetic Diversity of Mycobacterium Tuberculosis PE PGRS Genes and Its Clinical and Epidemiological Relevance book written by Sarah Elizabeth Talarico, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Psychiatric Genetics

Psychiatric Genetics Book
Author : Thomas Schulze,Francis McMahon
Publisher : Oxford University Press
Release : 2018
ISBN : 0190221976
Language : En, Es, Fr & De

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Book Description :

Psychiatrists and other mental health professionals are increasingly confronted with questions about the genetics of psychiatric illness, and the clinical applications of new genetic findings. Psychiatric Genetics: A Primer for Clinical and Basic Scientists addresses these questions through a straightforward introduction to the essentials of psychiatric genetics, complementing more comprehensive textbooks that may seem overwhelming for those new to the field. Written and edited by leaders in the field and the International Society of Psychiatric Genetics (ISPG), the book covers basic epidemiology, recruitment for human studies, phenotyping strategies, formal genetic and molecular genetic studies, statistical genetics, bioinformatics and genomics, pharmacogenetics, the most relevant animal models, and biobanking. Each chapter begins with a list of "take home" points that summarizes content, followed by a brief overview of current knowledge and suggestions for further reading. This Primer is ideal for medical students, psychiatric residents, psychiatrists, and basic neuroscience researchers who are interested in learning about the key concepts and recent advances in the exciting field of psychiatric genetics.

Archives of Pathology Laboratory Medicine

Archives of Pathology   Laboratory Medicine Book
Author : Anonim
Publisher : Unknown
Release : 2005
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download Archives of Pathology Laboratory Medicine book written by , available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

The Hitchhiker s Guide to Whole Exome Analysis

The Hitchhiker s Guide to Whole Exome Analysis Book
Author : Shrey Gandhi,Vinod Scaria
Publisher : Research in Genomics
Release : 2016-11-15
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

A handbook on computational analysis of whole exome sequence data

Emery s Elements of Medical Genetics

Emery s Elements of Medical Genetics Book
Author : Robert F. Mueller,Ian D. Young,Alan E. H. Emery
Publisher : Unknown
Release : 2001
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Today's medical student needs to understand the principles of genetics rather than accumulate detailed facts. This text explains the essential themes of medical genetics whilst remaining in control of the developments in this subject.