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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

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

Clinical Applications for Next Generation Sequencing

Clinical Applications for Next Generation Sequencing Book
Author : Urszula Demkow,Rafal Ploski
Publisher : Academic Press
Release : 2015-09-10
ISBN : 0128018410
Language : En, Es, Fr & De

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Book Description :

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

Mapping and Sequencing the Human Genome

Mapping and Sequencing the Human Genome Book
Author : National Research Council,Division on Earth and Life Studies,Commission on Life Sciences,Committee on Mapping and Sequencing the Human Genome
Publisher : National Academies Press
Release : 1988-01-01
ISBN : 0309038405
Language : En, Es, Fr & De

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Book Description :

There is growing enthusiasm in the scientific community about the prospect of mapping and sequencing the human genome, a monumental project that will have far-reaching consequences for medicine, biology, technology, and other fields. But how will such an effort be organized and funded? How will we develop the new technologies that are needed? What new legal, social, and ethical questions will be raised? Mapping and Sequencing the Human Genome is a blueprint for this proposed project. The authors offer a highly readable explanation of the technical aspects of genetic mapping and sequencing, and they recommend specific interim and long-range research goals, organizational strategies, and funding levels. They also outline some of the legal and social questions that might arise and urge their early consideration by policymakers.

Genomic Medicine

Genomic Medicine Book
Author : Dhavendra Kumar,Charis Eng
Publisher : Oxford Monographs on Medical G
Release : 2014-10-15
ISBN : 019989602X
Language : En, Es, Fr & De

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Book Description :

Preceded by Genomics and clinical medicine / edited by Dhavendra Kumar. [First edition]. 2008.

Medical and Health Genomics

Medical and Health Genomics Book
Author : Dhavendra Kumar,Stylianos Antonarakis
Publisher : Academic Press
Release : 2016-06-04
ISBN : 0127999221
Language : En, Es, Fr & De

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Book Description :

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

Molecular Microbiology

Molecular Microbiology Book
Author : David H. Persing,Fred C. Tenover,Randall T. Hayden,Margareta Ieven,Melissa B. Miller,Frederick S. Nolte,Yi-Wei Tang,Alex van Belkum
Publisher : John Wiley & Sons
Release : 2020-07-24
ISBN : 1555819079
Language : En, Es, Fr & De

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Book Description :

Presenting the latest molecular diagnostic techniques in one comprehensive volume The molecular diagnostics landscape has changed dramatically since the last edition of Molecular Microbiology: Diagnostic Principles and Practice in 2011. With the spread of molecular testing and the development of new technologies and their opportunities, laboratory professionals and physicians more than ever need a resource to help them navigate this rapidly evolving field. Editors David Persing and Fred Tenover have brought together a team of experienced researchers and diagnosticians to update this third edition comprehensively, to present the latest developments in molecular diagnostics in the support of clinical care and of basic and clinical research, including next-generation sequencing and whole-genome analysis. These updates are provided in an easy-to-read format and supported by a broad range of practical advice, such as determining the appropriate type and quantity of a specimen, releasing and concentrating the targets, and eliminating inhibitors. Molecular Microbiology: Diagnostic Principles and Practice Presents the latest basic scientific theory underlying molecular diagnostics Offers tested and proven applications of molecular diagnostics for the diagnosis of infectious diseases, including point-of-care testing Illustrates and summarizes key concepts and techniques with detailed figures and tables Discusses emerging technologies, including the use of molecular typing methods for real-time tracking of infectious outbreaks and antibiotic resistance Advises on the latest quality control and quality assurance measures Explores the increasing opportunities and capabilities of information technology Molecular Microbiology: Diagnostic Principles and Practice is a textbook for molecular diagnostics courses that can also be used by anyone involved with diagnostic test selection and interpretation. It is also a useful reference for laboratories and as a continuing education resource for physicians.

Clinical Precision Medicine

Clinical Precision Medicine Book
Author : Judy S. Crabtree
Publisher : Academic Press
Release : 2019-11-15
ISBN : 0128204028
Language : En, Es, Fr & De

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Book Description :

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

Precision Cancer Medicine

Precision Cancer Medicine Book
Author : Sameek Roychowdhury,Eliezer M. Van Allen
Publisher : Springer
Release : 2020-01-29
ISBN : 9783030236366
Language : En, Es, Fr & De

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Book Description :

Genomic sequencing technologies have augmented the classification of cancer beyond tissue of origin and towards a molecular taxonomy of cancer. This has created opportunities to guide treatment decisions for individual patients with cancer based on their cancer’s unique molecular characteristics, also known as precision cancer medicine. The purpose of this text will be to describe the contribution and need for multiple disciplines working together to deliver precision cancer medicine. This entails a multi-disciplinary approach across fields including molecular pathology, computational biology, clinical oncology, cancer biology, drug development, genetics, immunology, and bioethics. Thus, we have outlined a current text on each of these fields as they work together to overcome various challenges and create opportunities to deliver precision cancer medicine. As trainees and junior faculty enter their respective fields, this text will provide a framework for understanding the role and responsibility for each specialist to contribute to this team science approach.

A Guide to Genetic Counseling

A Guide to Genetic Counseling Book
Author : Wendy R. Uhlmann,Jane L. Schuette,Beverly Yashar
Publisher : John Wiley & Sons
Release : 2011-09-20
ISBN : 1118210530
Language : En, Es, Fr & De

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Book Description :

The first book devoted exclusively to the principles and practice of genetic counseling—now in a new edition First published in 1998, A Guide to Genetic Counseling quickly became a bestselling and widely recognized text, used nationally and internationally in genetic counseling training programs. Now in its eagerly anticipated Second Edition, it provides a thoroughly revised and comprehensive overview of genetic counseling, focusing on the components, theoretical framework, and unique approach to patient care that are the basis of this profession. The book defines the core competencies and covers the genetic counseling process from case initiation to completion—in addition to addressing global professional issues—with an emphasis on describing fundamental principles and practices. Chapters are written by leaders in the field of genetic counseling and are organized to facilitate academic instruction and skill attainment. They provide the most up-to-date coverage of: The history and practice of genetic counseling Family history Interviewing Case preparation and management Psychosocial counseling Patient education Risk communication and decision-making Medical genetics evaluation Understanding genetic testing Medical documentation Multicultural counseling Ethical and legal issues Student supervision Genetic counseling research Professional development Genetics education and outreach Evolving roles and expanding opportunities Case examples A Guide to Genetic Counseling, Second Edition belongs on the syllabi of all medical and human genetics and genetic counseling training programs. It is an indispensable reference for both students and healthcare professionals working with patients who have or are at risk for genetic conditions.

Implementing and Evaluating Genomic Screening Programs in Health Care Systems

Implementing and Evaluating Genomic Screening Programs in Health Care Systems Book
Author : National Academies of Sciences, Engineering, and Medicine,Health and Medicine Division,Board on Health Sciences Policy,Roundtable on Genomics and Precision Health
Publisher : National Academies Press
Release : 2018-06-16
ISBN : 0309473411
Language : En, Es, Fr & De

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Book Description :

Genomic applications are being integrated into a broad range of clinical and research activities at health care systems across the United States. This trend can be attributed to a variety of factors, including the declining cost of genome sequencing and the potential for improving health outcomes and cutting the costs of care. The goals of these genomics-based programs may be to identify individuals with clinically actionable variants as a way of preventing disease, providing diagnoses for patients with rare diseases, and advancing research on genetic contributions to health and disease. Of particular interest are genomics- based screening programs, which will, in this publication, be clinical screening programs that examine genes or variants in unselected populations in order to identify individuals who are at an increased risk for a particular health concern (e.g., diseases, adverse drug outcomes) and who might benefit from clinical interventions. On November 1, 2017, the National Academies of Sciences, Engineering, and Medicine hosted a public workshop to explore the challenges and opportunities associated with integrating genomics-based screening programs into health care systems. This workshop was developed as a way to explore the challenges and opportunities associated with integrating genomics-based programs in health care systems in the areas of evidence collection, sustainability, data sharing, infrastructure, and equity of access. This publication summarizes the presentations and discussions from the workshop.

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.

Genomic Applications in Pathology

Genomic Applications in Pathology Book
Author : George Jabboure Netto,Iris Schrijver
Publisher : Springer
Release : 2014-09-16
ISBN : 1493907271
Language : En, Es, Fr & De

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Book Description :

Genomic Applications in Pathology provides a state-of-the art review of the scientific principles underlying next generation genomic technologies and the required bioinformatics approaches to analyses of the daunting amount of data generated by current and emerging genomic technologies. Implementation roadmaps for various clinical assays such as single gene, gene panels, whole exome and whole genome assays are discussed together with issues related to reporting, including the pathologist’s role in interpretation and clinical integration of genomic tests results. Genomic applications for site-specific solid tumors and hematologic neoplasms are detailed, as well as genomic applications in pharmacogenomics, inherited genetic diseases, and infectious diseases. The latest iteration of practice recommendations and guidelines in genomic testing, put forth by stakeholder professional organizations such as the Association for Molecular Pathology and the College of American Pathologists, are also discussed in the volume, as well as regulatory issues and laboratory accreditation related to genomic testing. Written by experts in the field, Genomic Applications in Pathology provides a comprehensive resource that is of great value to practicing molecular pathologists, hematopathologists, other subspecialized pathologists, general pathologists, pathology trainees, oncologists, and geneticists.​

Assessing Genomic Sequencing Information for Health Care Decision Making

Assessing Genomic Sequencing Information for Health Care Decision Making Book
Author : Institute of Medicine,Board on Health Sciences Policy,Roundtable on Translating Genomic-Based Research for Health
Publisher : National Academies Press
Release : 2014-08-19
ISBN : 0309304970
Language : En, Es, Fr & De

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Book Description :

Rapid advances in technology have lowered the cost of sequencing an individual's genome from the several billion dollars that it cost a decade ago to just a few thousand dollars today and have correspondingly greatly expanded the use of genomic information in medicine. Because of the lack of evidence available for assessing variants, evaluation bodies have made only a few recommendations for the use of genetic tests in health care. For example, organizations, such as the Evaluation of Genomic Applications in Practice and Prevention working group, have sought to set standards for the kinds of evaluations needed to make population-level health decisions. However, due to insufficient evidence, it has been challenging to recommend the use of a genetic test. An additional challenge to using large-scale sequencing in the clinic is that it may uncover "secondary," or "incidental," findings - genetic variants that have been associated with a disease but that are not necessarily related to the conditions that led to the decision to use genomic testing. Furthermore, as more genetic variants are associated with diseases, new information becomes available about genomic tests performed previously, which raises issues about how and whether to return this information to physicians and patients and also about who is responsible for the information. To help develop a better understanding of how genomic information is used for healthcare decision making, the Roundtable on Translating Genomic-Based Research for Health of the Institute of Medicine held a workshop in Washington,DC in February 2014. Stakeholders, including clinicians, researchers, patients, and government officials, discussed the issues related to the use of genomic information in medical practice. Assessing Genomic Sequencing Information for Health Care Decision Making is the summary of that workshop. This report compares and contrasts evidence evaluation processes for different clinical indications and discusses key challenges in the evidence evaluation process.

Genomics and Clinical Diagnostics

Genomics and Clinical Diagnostics Book
Author : Ralph Rapley,David Whitehouse
Publisher : Royal Society of Chemistry
Release : 2019-01-29
ISBN : 1788016807
Language : En, Es, Fr & De

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Book Description :

Genomics and genome technology is having, and continues to have, a major impact on all areas of bioscience research providing insights into the key area of molecular mechanisms of cells in health and disease. This is causing a profound effect on biomedical science and is accelerating the development of new diagnostic applications. This book provides a timely, graduate level introduction to the fast-paced area of genomics and clinical diagnostic technologies and introduces the concept of applications based on this area. The initial chapters focus on principal molecular technologies that underpin the information in the later chapters. In addition to introductory areas of nucleic acids and techniques in molecular biology, bioinformatics and proteomics, other key diagnostic areas such as the use of immunological reagents are covered. The later chapters provide more specialised examples of currently used diagnostic technologies and insights into selected key diagnostic challenges including specific examples of molecular microbial diagnostics and molecular biomarkers in oncology. The running themes through the chapters provides an insight into current and future perspectives in this rapidly evolving field.

Integrating Large Scale Genomic Information into Clinical Practice

Integrating Large Scale Genomic Information into Clinical Practice Book
Author : Institute of Medicine,Board on Health Sciences Policy,Roundtable on Translating Genomic-Based Research for Health
Publisher : National Academies Press
Release : 2012-02-06
ISBN : 0309220378
Language : En, Es, Fr & De

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Book Description :

The initial sequencing of the human genome, carried out by an international group of experts, took 13 years and $2.7 billion to complete. In the decade since that achievement, sequencing technology has evolved at such a rapid pace that today a consumer can have his or her entire genome sequenced by a single company in a matter of days for less than $10,000, though the addition of interpretation may extend this timeframe. Given the rapid technological advances, the potential effect on the lives of patients, and the increasing use of genomic information in clinical care, it is important to address how genomics data can be integrated into the clinical setting. Genetic tests are already used to assess the risk of breast and ovarian cancers, to diagnose recessive diseases such as cystic fibrosis, to determine drug dosages based on individual patient metabolism, and to identify therapeutic options for treating lung and breast tumors, melanoma, and leukemia. With these issues in mind and considering the potential impact that genomics information can have on the prevention, diagnosis, and treatment of disease, the Roundtable on Translating Genomic-Based Research for Health hosted a workshop on July 19, 2011, to highlight and identify the challenges and opportunities in integrating large-scale genomic information into clinical practice. Integrating Large-Scale Genomic Information into Clinical Practice summarizes the speaker presentations and the discussions that followed them. This report focuses on several key topics, including the analysis, interpretation, and delivery of genomic information plus workforce, ethical, and legal issues.

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." --

Computational Exome and Genome Analysis

Computational Exome and Genome Analysis Book
Author : Peter N. Robinson,Rosario Michael Piro,Marten Jager
Publisher : CRC Press
Release : 2017-09-13
ISBN : 1351650815
Language : En, Es, Fr & De

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Book Description :

Exome and genome sequencing are revolutionizing medical research and diagnostics, but the computational analysis of the data has become an extremely heterogeneous and often challenging area of bioinformatics. Computational Exome and Genome Analysis provides a practical introduction to all of the major areas in the field, enabling readers to develop a comprehensive understanding of the sequencing process and the entire computational analysis pipeline.

Progress in Genomic Medicine

Progress in Genomic Medicine Book
Author : Moyra Smith
Publisher : Elsevier
Release : 2021-11-19
ISBN : 0323915477
Language : En, Es, Fr & De

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Book Description :

With Progress in Genomic Medicine: From Research to Clinical Application, celebrated author and human geneticist, Moyra Smith, provides a careful synthesis of the foundations, current trends, and translational challenges in genomic medicine, to clarify pathways forward and enable genomic medicine research and implementation across clinical settings and treatment development. Part I of Progress in Genomic Medicine addresses the history and growth of genetic medicine, with a discussion of key studies in syndrome delineations, inherited diseases, biochemical genetics, and chromosome abnormalities. Part II includes an overview of clinical applications made possible through genomic advances, with chapters on DNA sequencing for clinical genetic diagnosis, genotype-phenotype correlations in individuals and across populations, new-born screening for treatable genetic disorders, tumor and complex pathology genetics, pharmacogenetics, enzyme and protein replacement therapies, and gene and nucleotide-based therapies. Social, ethical, and public health aspects of applying genomic technologies, are included throughout. Here, Dr. Smith applies her experience and participation in field, across its major milestones, to put current research, clinical advances, and ongoing questions, in context. Traces the development of the field of genomic medicine, exploring key scientific advances and recent steps forward in clinical translation Considers the influence of genomic medicine on complex and monogenic pathology analysis, treatment plans, and therapeutics Ties recent research and clinical advances to their historical context