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Assessing Rare Variation In Complex Traits
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Book Synopsis Assessing Rare Variation in Complex Traits by : Eleftheria Zeggini
Download or read book Assessing Rare Variation in Complex Traits written by Eleftheria Zeggini and published by Springer. This book was released on 2015-08-13 with total page 262 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book is unique in covering a wide range of design and analysis issues in genetic studies of rare variants, taking advantage of collaboration of the editors with many experts in the field through large-scale international consortia including the UK10K Project, GO-T2D and T2D-GENES. Chapters provide details of state-of-the-art methodology for rare variant detection and calling, imputation and analysis in samples of unrelated individuals and families. The book also covers analytical issues associated with the study of rare variants, such as the impact of fine-scale population structure, and with combining information on rare variants across studies in a meta-analysis framework. Genetic association studies have in the last few years substantially enhanced our understanding of factors underlying traits of high medical importance, such as body mass index, lipid levels, blood pressure and many others. There is growing empirical evidence that low-frequency and rare variants play an important role in complex human phenotypes. This book covers multiple aspects of study design, analysis and interpretation for complex trait studies focusing on rare sequence variation. In many areas of genomic research, including complex trait association studies, technology is in danger of outstripping our capacity to analyse and interpret the vast amounts of data generated. The field of statistical genetics in the whole-genome sequencing era is still in its infancy, but powerful methods to analyse the aggregation of low-frequency and rare variants are now starting to emerge. The chapter Functional Annotation of Rare Genetic Variants is available open access under a Creative Commons Attribution 4.0 International License via link.springer.com.
Book Synopsis Genetic Epidemiology by : Evangelos Evangelou
Download or read book Genetic Epidemiology written by Evangelos Evangelou and published by Humana Press. This book was released on 2018-06-07 with total page 299 pages. Available in PDF, EPUB and Kindle. Book excerpt: This volume details fast-moving research while providing in-depth descriptions of methods and analytical approaches that are helping to understand the genome and how it is related to complex diseases. Chapters guide the reader through common and rare variation, gene-gene and gene-environment interactions and state-of-the-art approaches for the synthesis of genome-wide and gene expression data. Novel approaches for associations in the HLA region, family-based designs, Mendelian Randomization and Copy Number Variation are also presented. The volume concludes with the challenges researchers face while moving from identifying variants to their functional role and potential drug targets. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, a thorough presentation of methods and approaches and tips on troubleshooting and avoiding known pitfalls.
Book Synopsis Biosocial Surveys by : National Research Council
Download or read book Biosocial Surveys written by National Research Council and published by National Academies Press. This book was released on 2008-01-06 with total page 429 pages. Available in PDF, EPUB and Kindle. Book excerpt: Biosocial Surveys analyzes the latest research on the increasing number of multipurpose household surveys that collect biological data along with the more familiar interviewerâ€"respondent information. This book serves as a follow-up to the 2003 volume, Cells and Surveys: Should Biological Measures Be Included in Social Science Research? and asks these questions: What have the social sciences, especially demography, learned from those efforts and the greater interdisciplinary communication that has resulted from them? Which biological or genetic information has proven most useful to researchers? How can better models be developed to help integrate biological and social science information in ways that can broaden scientific understanding? This volume contains a collection of 17 papers by distinguished experts in demography, biology, economics, epidemiology, and survey methodology. It is an invaluable sourcebook for social and behavioral science researchers who are working with biosocial data.
Book Synopsis Studying Correlations between Genetic Variation and Test Score Gaps by : Gregory Connor
Download or read book Studying Correlations between Genetic Variation and Test Score Gaps written by Gregory Connor and published by Cambridge Scholars Publishing. This book was released on 2024-02-07 with total page 360 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book is an edited collection of recently published papers on the sources of average test score gaps when analysed through the lenses of race and ethnicity, socio-economic status, and biogeographic ancestries such as European, African, and East Asian ancestry. It brings together exciting recent findings that rely on powerful DNA-based methods developed in the last few decades. The book also considers the public policy question as to whether, and how, these findings should be disseminated to the general public audience.
Book Synopsis Bioinformatics and Human Genomics Research by : Diego A. Forero
Download or read book Bioinformatics and Human Genomics Research written by Diego A. Forero and published by CRC Press. This book was released on 2021-12-22 with total page 374 pages. Available in PDF, EPUB and Kindle. Book excerpt: Advances in high-throughput biological methods have led to the publication of a large number of genome-wide studies in human and animal models. In this context, recent tools from bioinformatics and computational biology have been fundamental for the analysis of these genomic studies. The book Bioinformatics and Human Genomics Research provides updated and comprehensive information about multiple approaches of the application of bioinformatic tools to research in human genomics. It covers strategies analysis of genome-wide association studies, genome-wide expression studies and genome-wide DNA methylation, among other topics. It provides interesting strategies for data mining in human genomics, network analysis, prediction of binding sites for miRNAs and transcription factors, among other themes. Experts from all around the world in bioinformatics and human genomics have contributed chapters in this book. Readers will find this book as quite useful for their in silico explorations, which would contribute to a better and deeper understanding of multiple biological processes and of pathophysiology of many human diseases.
Author :National Academies of Sciences, Engineering, and Medicine Publisher :National Academies Press ISBN 13 :0309453291 Total Pages :149 pages Book Rating :4.3/5 (94 download)
Book Synopsis An Evidence Framework for Genetic Testing by : National Academies of Sciences, Engineering, and Medicine
Download or read book An Evidence Framework for Genetic Testing written by National Academies of Sciences, Engineering, and Medicine and published by National Academies Press. This book was released on 2017-04-21 with total page 149 pages. Available in PDF, EPUB and Kindle. Book excerpt: Advances in genetics and genomics are transforming medical practice, resulting in a dramatic growth of genetic testing in the health care system. The rapid development of new technologies, however, has also brought challenges, including the need for rigorous evaluation of the validity and utility of genetic tests, questions regarding the best ways to incorporate them into medical practice, and how to weigh their cost against potential short- and long-term benefits. As the availability of genetic tests increases so do concerns about the achievement of meaningful improvements in clinical outcomes, costs of testing, and the potential for accentuating medical care inequality. Given the rapid pace in the development of genetic tests and new testing technologies, An Evidence Framework for Genetic Testing seeks to advance the development of an adequate evidence base for genetic tests to improve patient care and treatment. Additionally, this report recommends a framework for decision-making regarding the use of genetic tests in clinical care.
Author :Agency for Healthcare Research and Quality/AHRQ Publisher :Government Printing Office ISBN 13 :1587634333 Total Pages :385 pages Book Rating :4.5/5 (876 download)
Book Synopsis Registries for Evaluating Patient Outcomes by : Agency for Healthcare Research and Quality/AHRQ
Download or read book Registries for Evaluating Patient Outcomes written by Agency for Healthcare Research and Quality/AHRQ and published by Government Printing Office. This book was released on 2014-04-01 with total page 385 pages. Available in PDF, EPUB and Kindle. Book excerpt: This User’s Guide is intended to support the design, implementation, analysis, interpretation, and quality evaluation of registries created to increase understanding of patient outcomes. For the purposes of this guide, a patient registry is an organized system that uses observational study methods to collect uniform data (clinical and other) to evaluate specified outcomes for a population defined by a particular disease, condition, or exposure, and that serves one or more predetermined scientific, clinical, or policy purposes. A registry database is a file (or files) derived from the registry. Although registries can serve many purposes, this guide focuses on registries created for one or more of the following purposes: to describe the natural history of disease, to determine clinical effectiveness or cost-effectiveness of health care products and services, to measure or monitor safety and harm, and/or to measure quality of care. Registries are classified according to how their populations are defined. For example, product registries include patients who have been exposed to biopharmaceutical products or medical devices. Health services registries consist of patients who have had a common procedure, clinical encounter, or hospitalization. Disease or condition registries are defined by patients having the same diagnosis, such as cystic fibrosis or heart failure. The User’s Guide was created by researchers affiliated with AHRQ’s Effective Health Care Program, particularly those who participated in AHRQ’s DEcIDE (Developing Evidence to Inform Decisions About Effectiveness) program. Chapters were subject to multiple internal and external independent reviews.
Book Synopsis A Framework for K-12 Science Education by : National Research Council
Download or read book A Framework for K-12 Science Education written by National Research Council and published by National Academies Press. This book was released on 2012-02-28 with total page 400 pages. Available in PDF, EPUB and Kindle. Book excerpt: Science, engineering, and technology permeate nearly every facet of modern life and hold the key to solving many of humanity's most pressing current and future challenges. The United States' position in the global economy is declining, in part because U.S. workers lack fundamental knowledge in these fields. To address the critical issues of U.S. competitiveness and to better prepare the workforce, A Framework for K-12 Science Education proposes a new approach to K-12 science education that will capture students' interest and provide them with the necessary foundational knowledge in the field. A Framework for K-12 Science Education outlines a broad set of expectations for students in science and engineering in grades K-12. These expectations will inform the development of new standards for K-12 science education and, subsequently, revisions to curriculum, instruction, assessment, and professional development for educators. This book identifies three dimensions that convey the core ideas and practices around which science and engineering education in these grades should be built. These three dimensions are: crosscutting concepts that unify the study of science through their common application across science and engineering; scientific and engineering practices; and disciplinary core ideas in the physical sciences, life sciences, and earth and space sciences and for engineering, technology, and the applications of science. The overarching goal is for all high school graduates to have sufficient knowledge of science and engineering to engage in public discussions on science-related issues, be careful consumers of scientific and technical information, and enter the careers of their choice. A Framework for K-12 Science Education is the first step in a process that can inform state-level decisions and achieve a research-grounded basis for improving science instruction and learning across the country. The book will guide standards developers, teachers, curriculum designers, assessment developers, state and district science administrators, and educators who teach science in informal environments.
Book Synopsis The Encyclopaedia of Sports Medicine, Genetic and Molecular Aspects of Sports Performance by : Claude Bouchard
Download or read book The Encyclopaedia of Sports Medicine, Genetic and Molecular Aspects of Sports Performance written by Claude Bouchard and published by John Wiley & Sons. This book was released on 2011-08-02 with total page 584 pages. Available in PDF, EPUB and Kindle. Book excerpt: This is the latest volume in the IOC Encyclopaedia of Sports Medicine series, summarizing the evidence from all relevant sources on the genetic and molecular basis of sports and other human physical performance. The initial chapters address the basic science of genomics and genetics and the regulation of gene expression. Additional chapters provide authoritative information on the genetics of complex performance phenotypes, the contributions of small animal research, family and twin studies, and ethnic comparisons. A final section addresses the issue of the contribution of specific genes and molecular markers as related to endurance, strength and power, and responsiveness to specific conditioning programs. This latest volume in the Encyclopaedia of Sports Medicine Series from the Medical Commission of the International Olympic Committee is a must for sports and exercise scientists who require a thorough guide to the most cutting edge science in this expanding field.
Book Synopsis Assessing Genetic Risks by : Institute of Medicine
Download or read book Assessing Genetic Risks written by Institute of Medicine and published by National Academies Press. This book was released on 1994-01-01 with total page 353 pages. Available in PDF, EPUB and Kindle. Book excerpt: Raising hopes for disease treatment and prevention, but also the specter of discrimination and "designer genes," genetic testing is potentially one of the most socially explosive developments of our time. This book presents a current assessment of this rapidly evolving field, offering principles for actions and research and recommendations on key issues in genetic testing and screening. Advantages of early genetic knowledge are balanced with issues associated with such knowledge: availability of treatment, privacy and discrimination, personal decision-making, public health objectives, cost, and more. Among the important issues covered: Quality control in genetic testing. Appropriate roles for public agencies, private health practitioners, and laboratories. Value-neutral education and counseling for persons considering testing. Use of test results in insurance, employment, and other settings.
Download or read book The Ovary written by Peter C.K. Leung and published by Academic Press. This book was released on 2018-09-10 with total page 628 pages. Available in PDF, EPUB and Kindle. Book excerpt: The Ovary, Third Edition, includes more than 60% new material that highlights the clinical aspects of human ovarian functions. It covers advances in the areas of genomics, assisted reproductive technology, and cancer diagnosis and treatment. This updated edition synthesizes new information at the molecular, cellular and organismal levels, while also presenting modern ovarian physiology in a more understandable and comparative context. The book looks at ovarian function from a detailed molecular and cellular level that examines all phases of the ovarian lifecycle that places special emphasis on the pathophysiology of the human ovary, including ovarian carcinogenesis. Represents an unparalleled compilation of chapters that are relevant to contemporary ovarian physiology Provides basic and clinical research on ovarian function, abnormalities, assisted reproductive technology, and cancer Highlights contemporary strategies and treatment paradigms in female factor infertility
Book Synopsis Genetics and Analysis of Quantitative Traits by : Michael Lynch
Download or read book Genetics and Analysis of Quantitative Traits written by Michael Lynch and published by Sinauer Associates Incorporated. This book was released on 1998-01 with total page 980 pages. Available in PDF, EPUB and Kindle. Book excerpt: Professors Lynch and Walsh bring together the diverse array of theoretical and empirical applications of quantitative genetics in a work that is comprehensive and accessible to anyone with a rudimentary understanding of statistics and genetics.
Book Synopsis Genomics of Rare Diseases by : Claudia Gonzaga-Jauregui
Download or read book Genomics of Rare Diseases written by Claudia Gonzaga-Jauregui and published by Academic Press. This book was released on 2021-06-12 with total page 318 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genomics of Rare Diseases: Understanding Disease Genetics Using Genomic Approaches, a new volume in the Translational and Applied Genomics series, offers readers a broad understanding of current knowledge on rare diseases through a genomics lens. This clear understanding of the latest molecular and genomic technologies used to elucidate the molecular causes of more than 5,000 genetic disorders brings readers closer to unraveling many more that remain undefined and undiscovered. The challenges associated with performing rare disease research are also discussed, as well as the opportunities that the study of these disorders provides for improving our understanding of disease architecture and pathophysiology. Leading chapter authors in the field discuss approaches such as karyotyping and genomic sequencing for the better diagnosis and treatment of conditions including recessive diseases, dominant and X-linked disorders, de novo mutations, sporadic disorders and mosaicism. - Compiles applied case studies and methodologies, enabling researchers, clinicians and healthcare providers to effectively classify DNA variants associated with disease and patient phenotypes - Discusses the main challenges in studying the genetics of rare diseases through genomic approaches and possible or ongoing solutions - Explores opportunities for novel therapeutics - Features chapter contributions from leading researchers and clinicians
Book Synopsis Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease by : Roger N. Rosenberg
Download or read book Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease written by Roger N. Rosenberg and published by Elsevier. This book was released on 2014-10-28 with total page 1465 pages. Available in PDF, EPUB and Kindle. Book excerpt: Rosenberg’s Molecular and Genetic Basis of Neurologic and Psychiatric Disease, Fifth Edition provides a comprehensive introduction and reference to the foundations and key practical aspects relevant to the majority of neurologic and psychiatric disease. A favorite of over three generations of students, clinicians and scholars, this new edition retains and expands the informative, concise and critical tone of the first edition. This is an essential reference for general medical practitioners, neurologists, psychiatrists, geneticists, and related professionals, and for the neuroscience and neurology research community. The content covers all aspects essential to the practice of neurogenetics to inform clinical diagnosis, treatment and genetic counseling. Every chapter has been thoroughly revised or newly commissioned to reflect the latest scientific and medical advances by an international team of leading scientists and clinicians. The contents have been expanded to include disorders for which a genetic basis has been recently identified, together with abundant original illustrations that convey and clarify the key points of the text in an attractive, didactic format. Previous editions have established this book as the leading tutorial reference on neurogenetics. Researchers will find great value in the coverage of genomics, animal models and diagnostic methods along with a better understanding of the clinical implications. Clinicians will rely on the coverage of the basic science of neurogenetics and the methods for evaluating patients with biochemical abnormalities or gene mutations, including links to genetic testing for specific diseases. Comprehensive coverage of the neurogenetic foundation of neurological and psychiatric disease Detailed introduction to both clinical and basic research implications of molecular and genetic understanding of the brain Detailed coverage of genomics, animal models and diagnostic methods with new coverage of evaluating patients with biochemical abnormalities or gene mutations
Book Synopsis Flow Cytometry by : Alice Longobardi Givan
Download or read book Flow Cytometry written by Alice Longobardi Givan and published by John Wiley & Sons. This book was released on 2013-04-10 with total page 309 pages. Available in PDF, EPUB and Kindle. Book excerpt: Flow cytometry continually amazes scientists with its ever-expanding utility. Advances in flow cytometry have opened new directions in theoretical science, clinical diagnosis, and medical practice. The new edition of Flow Cytometry: First Principles provides a thorough update of this now classic text, reflecting innovations in the field while outlining the fundamental elements of instrumentation, sample preparation, and data analysis. Flow Cytometry: First Principles, Second Edition explains the basic principles of flow cytometry, surveying its primary scientific and clinical applications and highlighting state-of-the-art techniques at the frontiers of research. This edition contains extensive revisions of all chapters, including new discussions on fluorochrome and laser options for multicolor analysis, an additionalsection on apoptosis in the chapter on DNA, and new chapters onintracellular protein staining and cell sorting, including high-speed sorting and alternative sorting methods, as well as traditional technology. This essential resource: Assumes no prior knowledge of flow cytometry Progresses with an informal, engaging lecture style from simpleto more complex concepts Offers a clear introduction to new vocabulary, principles of instrumentation, and strategies for data analysis Emphasizes the theory relevant to all flow cytometry, with examples from a variety of clinical and scientific fields Flow Cytometry: First Principles, Second Edition provides scientists, clinicians, technologists, and students with the knowledge necessary for beginning the practice of flow cytometry and for understanding related literature.
Book Synopsis Innovative Methods for Rare Disease Drug Development by : Shein-Chung Chow
Download or read book Innovative Methods for Rare Disease Drug Development written by Shein-Chung Chow and published by CRC Press. This book was released on 2020-11-11 with total page 321 pages. Available in PDF, EPUB and Kindle. Book excerpt: In the United States, a rare disease is defined by the Orphan Drug Act as a disorder or condition that affects fewer than 200,000 persons. For the approval of "orphan" drug products for rare diseases, the traditional approach of power analysis for sample size calculation is not feasible because there are only limited number of subjects available for clinical trials. In this case, innovative approaches are needed for providing substantial evidence meeting the same standards for statistical assurance as drugs used to treat common conditions. Innovative Methods for Rare Disease Drug Development focuses on biostatistical applications in terms of design and analysis in pharmaceutical research and development from both regulatory and scientific (statistical) perspectives. Key Features: Reviews critical issues (e.g., endpoint/margin selection, sample size requirements, and complex innovative design). Provides better understanding of statistical concepts and methods which may be used in regulatory review and approval. Clarifies controversial statistical issues in regulatory review and approval accurately and reliably. Makes recommendations to evaluate rare diseases regulatory submissions. Proposes innovative study designs and statistical methods for rare diseases drug development, including n-of-1 trial design, adaptive trial design, and master protocols like platform trials. Provides insight regarding current regulatory guidance on rare diseases drug development like gene therapy.
Book Synopsis Rare Diseases and Orphan Products by : Institute of Medicine
Download or read book Rare Diseases and Orphan Products written by Institute of Medicine and published by National Academies Press. This book was released on 2011-04-03 with total page 442 pages. Available in PDF, EPUB and Kindle. Book excerpt: Rare diseases collectively affect millions of Americans of all ages, but developing drugs and medical devices to prevent, diagnose, and treat these conditions is challenging. The Institute of Medicine (IOM) recommends implementing an integrated national strategy to promote rare diseases research and product development.
