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

The Variant Effect: GREENMOURNING
The Variant Effect: GREENMOURNING

Author: G. Wells Taylor

Publisher: G. Wells Taylor

Published: 2010-06-14

Total Pages: 396

ISBN-13:

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WHILE HYDE hunts for a Variant-enhanced serial killer, a fight with a skin-eating granny almost sends Borland back into retirement. Skin eaters, secrets, and murder close in as the squad scrambles to contain the Variant Effect. VARION was a popular medication that could cure anything from Anxiety and Depression to Schizophrenia and Zoophagia. Everybody took it back in the day, because there were no side effects ... AT FIRST. By the time they learned about the Variant Effect it was too late. It’s been twenty years since Borland battled the Variant Effect, and twenty since he let his partner get skinned alive. Now they have been ordered back into action to meet a terrifying new threat.

The Variant Effect: SKIN EATERS
The Variant Effect: SKIN EATERS

Author: G. Wells Taylor

Publisher: G. Wells Taylor

Published:

Total Pages: 260

ISBN-13:

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VARION was a popular medication that could cure anything from Anxiety and Depression to Schizophrenia and Zoophagia. Everybody took it back in the day, because there were no side effects... ...AT FIRST. By the time they learned about the Variant Effect it was too late. The old building in a rundown part of Metro was a perfect place to find a body, but they wouldn't have dragged Joe Borland out of retirement if it still had its skin. It's been 20 years since Borland battled the Variant Effect, and 20 since he let his partner get skinned alive. Now both of them are ordered back into action to meet a terrifying new threat.Description Notice: This Book is published by Historical Books Limited (www.publicdomain.org.uk) as a Public Domain Book, if you have any inquiries, requests or need any help you can just send an email to [email protected] book is found as a public domain and free book based on various online catalogs, if you think there are any problems regard copyright issues please contact us immediately via [email protected]

Human Gene Mutation
Human Gene Mutation

Author: David N. Cooper

Publisher: Taylor & Francis

Published: 1995

Total Pages: 412

ISBN-13: 9781859960554

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Within the last decade, much progress has been made in the analysis and diagnosis of human inherited disease, and in the characterization of the underlying genes and their associated pathological lesions.

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.

The Variant Effect: BLOOD ANGEL
The Variant Effect: BLOOD ANGEL

Author: G. Wells Taylor

Publisher: G. Wells Taylor

Published:

Total Pages: 31

ISBN-13:

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BACK IN THE DAY ... People didn’t know that it was happening, so it was totally out of control by the time authorities understood that something serious was going on. As a result, the worst of it incubated in the shadows, hidden behind closed doors and far from view, where the true horror played out in isolation. Where no one could hear you scream. The Variant Effect was impossible to detect until you were already infected. There was no way to tell if it was near, if it was cooking in you, or if it had passed you by altogether. First responders were the first to document evidence of its existence, the first to see it happening, and often the first to feel it boiling in their blood. Stress set it off and fear fed it, so it was a perfect fit for cops, firemen, and EMTs. But in the beginning all they could do was file incident reports and wonder. Here is a short story from early in the day.

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.

The Variant Effect: MADHOUSE 3
The Variant Effect: MADHOUSE 3

Author: G. Wells Taylor

Publisher: G. Wells Taylor

Published:

Total Pages: 357

ISBN-13:

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THE VARIANT SQUAD barely had time to get back on its feet before the screaming started. Someone was getting skinned alive, and they knew it. But many of their comrades have just fallen to their deaths, and others are still missing, so Captain Beachboy knows that answering the cry for help would be suicide. Skin Eater packs are still hunting on the levels above and below them, and it’s only a matter of time before their ugly craving returns and they attack again. And that’s not the end of it. A murderous Kill Squad sent by an unknown enemy must have followed them underground. It has the Lazarus team’s innocent blood on its hands, and Beachboy suspects the unknown assassins are committed to spilling 9-Squad’s too. And the old myths about the basement are proving true. Something with an appetite for pain is haunting the bunker complex and feeds its hunger through the Biter packs. It has also poisoned the place with the Varion molecule that causes the lethal new form of the Variant Effect, forcing the squad to remain sealed in their bag-suits. And they’re running out of air. Variant Squad veteran Joe Borland knows that there are forces within the squad that might not want to win the battle underground, and would prefer leaving his bagged-comrades buried with the incriminating evidence they have found. So he’ll have to pick a side when his life’s on the line. In the meantime he and Beachboy take the squad survivors on a desperate search for a rumored escape tunnel while dark forces gather on all sides, and a secret clock winds down to doomsday and the final Variant Squad protocol of Ziploc, Gas and BURN! Explore the MADHOUSE to the END with BURN, third stage in the final chapters of The Variant Effect Series.

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.