An Evidence Framework for Genetic Testing
An Evidence Framework for Genetic Testing

Author: National Academies of Sciences, Engineering, and Medicine

Publisher: National Academies Press

Published: 2017-04-21

Total Pages: 149

ISBN-13: 0309453291

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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.

Clinical DNA Variant Interpretation
Clinical DNA Variant Interpretation

Author: Conxi Lázaro

Publisher: Academic Press

Published: 2021-02-27

Total Pages: 438

ISBN-13: 0128205202

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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

Health Effects of Exposure to Low Levels of Ionizing Radiation
Health Effects of Exposure to Low Levels of Ionizing Radiation

Author: National Research Council

Publisher: National Academies

Published: 1990-02-01

Total Pages: 436

ISBN-13: 0309039959

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This book reevaluates the health risks of ionizing radiation in light of data that have become available since the 1980 report on this subject was published. The data include new, much more reliable dose estimates for the A-bomb survivors, the results of an additional 14 years of follow-up of the survivors for cancer mortality, recent results of follow-up studies of persons irradiated for medical purposes, and results of relevant experiments with laboratory animals and cultured cells. It analyzes the data in terms of risk estimates for specific organs in relation to dose and time after exposure, and compares radiation effects between Japanese and Western populations.

Handbook of Statistical Genomics
Handbook of Statistical Genomics

Author: David J. Balding

Publisher: John Wiley & Sons

Published: 2019-07-09

Total Pages: 1740

ISBN-13: 1119429250

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A timely update of a highly popular handbook on statistical genomics This new, two-volume edition of a classic text provides a thorough introduction to statistical genomics, a vital resource for advanced graduate students, early-career researchers and new entrants to the field. It introduces new and updated information on developments that have occurred since the 3rd edition. Widely regarded as the reference work in the field, it features new chapters focusing on statistical aspects of data generated by new sequencing technologies, including sequence-based functional assays. It expands on previous coverage of the many processes between genotype and phenotype, including gene expression and epigenetics, as well as metabolomics. It also examines population genetics and evolutionary models and inference, with new chapters on the multi-species coalescent, admixture and ancient DNA, as well as genetic association studies including causal analyses and variant interpretation. The Handbook of Statistical Genomics focuses on explaining the main ideas, analysis methods and algorithms, citing key recent and historic literature for further details and references. It also includes a glossary of terms, acronyms and abbreviations, and features extensive cross-referencing between chapters, tying the different areas together. With heavy use of up-to-date examples and references to web-based resources, this continues to be a must-have reference in a vital area of research. Provides much-needed, timely coverage of new developments in this expanding area of study Numerous, brand new chapters, for example covering bacterial genomics, microbiome and metagenomics Detailed coverage of application areas, with chapters on plant breeding, conservation and forensic genetics Extensive coverage of human genetic epidemiology, including ethical aspects Edited by one of the leading experts in the field along with rising stars as his co-editors Chapter authors are world-renowned experts in the field, and newly emerging leaders. The Handbook of Statistical Genomics is an excellent introductory text for advanced graduate students and early-career researchers involved in statistical genetics.

Biosocial Surveys
Biosocial Surveys

Author: National Research Council

Publisher: National Academies Press

Published: 2008-01-06

Total Pages: 429

ISBN-13: 0309108675

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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.

Promoting Safe and Effective Genetic Testing in the United States
Promoting Safe and Effective Genetic Testing in the United States

Author: Task Force on Genetic Testing (U.S.)

Publisher:

Published: 1998-07-24

Total Pages: 222

ISBN-13:

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In view of this uncertainty, the Working Group on Ethical, Legal, and Social Implications of Human Genome Research at the National Institutes of Health and Department of Energy created the Task Force on Genetic Testing.

Time-Varying Effect Modeling for the Behavioral, Social, and Health Sciences
Time-Varying Effect Modeling for the Behavioral, Social, and Health Sciences

Author: Stephanie T. Lanza

Publisher: Springer Nature

Published: 2021-05-06

Total Pages: 150

ISBN-13: 3030709442

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This book is the first to introduce applied behavioral, social, and health sciences researchers to a new analytic method, the time-varying effect model (TVEM). It details how TVEM may be used to advance research on developmental and dynamic processes by examining how associations between variables change across time. The book describes how TVEM is a direct and intuitive extension of standard linear regression; whereas standard linear regression coefficients are static estimates that do not change with time, TVEM coefficients are allowed to change as continuous functions of real time, including developmental age, historical time, time of day, days since an event, and so forth. The book introduces readers to new research questions that can be addressed by applying TVEM in their research. Readers gain the practical skills necessary for specifying a wide variety of time-varying effect models, including those with continuous, binary, and count outcomes. The book presents technical details of TVEM estimation and three novel empirical studies focused on developmental questions using TVEM to estimate age-varying effects, historical shifts in behavior and attitudes, and real-time changes across days relative to an event. The volume provides a walkthrough of the process for conducting each of these studies, presenting decisions that were made, and offering sufficient detail so that readers may embark on similar studies in their own research. The book concludes with comments about additional uses of TVEM in applied research as well as software considerations and future directions. Throughout the book, proper interpretation of the output provided by TVEM is emphasized. Time-Varying Effect Modeling for the Behavioral, Social, and Health Sciences is an essential resource for researchers, clinicians/practitioners as well as graduate students in developmental psychology, public health, statistics and methodology for the social, behavioral, developmental, and public health sciences.

Doing Meta-Analysis with R
Doing Meta-Analysis with R

Author: Mathias Harrer

Publisher: CRC Press

Published: 2021-09-15

Total Pages: 500

ISBN-13: 1000435636

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Doing Meta-Analysis with R: A Hands-On Guide serves as an accessible introduction on how meta-analyses can be conducted in R. Essential steps for meta-analysis are covered, including calculation and pooling of outcome measures, forest plots, heterogeneity diagnostics, subgroup analyses, meta-regression, methods to control for publication bias, risk of bias assessments and plotting tools. Advanced but highly relevant topics such as network meta-analysis, multi-three-level meta-analyses, Bayesian meta-analysis approaches and SEM meta-analysis are also covered. A companion R package, dmetar, is introduced at the beginning of the guide. It contains data sets and several helper functions for the meta and metafor package used in the guide. The programming and statistical background covered in the book are kept at a non-expert level, making the book widely accessible. Features • Contains two introductory chapters on how to set up an R environment and do basic imports/manipulations of meta-analysis data, including exercises • Describes statistical concepts clearly and concisely before applying them in R • Includes step-by-step guidance through the coding required to perform meta-analyses, and a companion R package for the book

Inborn Metabolic Diseases
Inborn Metabolic Diseases

Author: K. Tada

Publisher: Springer Science & Business Media

Published: 2013-03-14

Total Pages: 421

ISBN-13: 3662031477

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Each disease-related chapter begins with a detailed description of the patient and the delineating symptoms used for establishing the diagnosis and differential diagnosis. The highly detailed figures illustrate the metabolic derangement in a uniform way, together with essential aspects of the genetics involved, thus affording clarification and better understanding of the treatment. Topics covered range from general aspects such as the clinical approach, emergency treatment, diagnostic procedures, and psychosocial care for the child and the family, to specific discussions of new modes of treatment, including liver, bone marrow transplantation and somatic gene therapy.