Rigor And Reproducibility In Genetics And Genomics

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Rigor And Reproducibility In Genetics And Genomics

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Author :
language : en
Publisher: Academic Press
Release Date : 2023-11-24

Rigor And Reproducibility In Genetics And Genomics written by and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2023-11-24 with Medical categories.

Rigor and Reproducibility in Genetics and Genomics: Peer-reviewed, Published, Cited provides a full methodological and statistical overview for researchers, clinicians, students, and post-doctoral fellows conducting genetic and genomic research. Here, active geneticists, clinicians, and bioinformaticists offer practical solutions for a variety of challenges associated with several modern approaches in genetics and genomics, including genotyping, gene expression analysis, epigenetic analysis, GWAS, EWAS, genomic sequencing, and gene editing. Emphasis is placed on rigor and reproducibility throughout, with each section containing laboratory case-studies and classroom activities covering step-by-step protocols, best practices, and common pitfalls. Specific genetic and genomic technologies discussed include microarray analysis, DNA-seq, RNA-seq, Chip-Seq, methyl-seq, CRISPR gene editing, and CRISPR-based genetic analysis. Training exercises, supporting data, and in-depth discussions of rigor, reproducibility, and ethics in research together deliver a solid foundation in research standards for the next generation of genetic and genomic scientists. Provides practical approaches and step-by-step protocols to strengthen genetic and genomic research conducted in the laboratory or classroom Presents illustrative case studies and training exercises, discussing common pitfalls and solutions for genotyping, gene expression analysis, epigenetic analysis, GWAS, genomic sequencing, and gene editing, among other genetic and genomic approaches Examines best practices for microarray analysis, DNA-seq, RNA-seq, gene expression validation, Chip-Seq, methyl-seq, CRISPR gene editing, and CRISPR-based genetic analysis Written to provide trainees and educators with highly applicable tools and strategies to learn or refine a method toward identifying meaningful results with high confidence in their reproducibility

Reproducibility And Replicability In Science

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Author : National Academies of Sciences, Engineering, and Medicine
language : en
Publisher: National Academies Press
Release Date : 2019-10-20

Reproducibility And Replicability In Science written by National Academies of Sciences, Engineering, and Medicine and has been published by National Academies Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2019-10-20 with Science categories.

One of the pathways by which the scientific community confirms the validity of a new scientific discovery is by repeating the research that produced it. When a scientific effort fails to independently confirm the computations or results of a previous study, some fear that it may be a symptom of a lack of rigor in science, while others argue that such an observed inconsistency can be an important precursor to new discovery. Concerns about reproducibility and replicability have been expressed in both scientific and popular media. As these concerns came to light, Congress requested that the National Academies of Sciences, Engineering, and Medicine conduct a study to assess the extent of issues related to reproducibility and replicability and to offer recommendations for improving rigor and transparency in scientific research. Reproducibility and Replicability in Science defines reproducibility and replicability and examines the factors that may lead to non-reproducibility and non-replicability in research. Unlike the typical expectation of reproducibility between two computations, expectations about replicability are more nuanced, and in some cases a lack of replicability can aid the process of scientific discovery. This report provides recommendations to researchers, academic institutions, journals, and funders on steps they can take to improve reproducibility and replicability in science.

Human Genetics And Genomics

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Author : Bruce R. Korf
language : en
Publisher: John Wiley & Sons
Release Date : 2012-11-19

Human Genetics And Genomics written by Bruce R. Korf and has been published by John Wiley & Sons this book supported file pdf, txt, epub, kindle and other format this book has been release on 2012-11-19 with Medical categories.

This fourth edition of the best-selling textbook, Human Genetics and Genomics, clearly explains the key principles needed by medical and health sciences students, from the basis of molecular genetics, to clinical applications used in the treatment of both rare and common conditions. A newly expanded Part 1, Basic Principles of Human Genetics, focuses on introducing the reader to key concepts such as Mendelian principles, DNA replication and gene expression. Part 2, Genetics and Genomics in Medical Practice, uses case scenarios to help you engage with current genetic practice. Now featuring full-color diagrams, Human Genetics and Genomics has been rigorously updated to reflect today’s genetics teaching, and includes updated discussion of genetic risk assessment, “single gene” disorders and therapeutics. Key learning features include: Clinical snapshots to help relate science to practice ‘Hot topics’ boxes that focus on the latest developments in testing, assessment and treatment ‘Ethical issues’ boxes to prompt further thought and discussion on the implications of genetic developments ‘Sources of information’ boxes to assist with the practicalities of clinical research and information provision Self-assessment review questions in each chapter Accompanied by the Wiley E-Text digital edition (included in the price of the book), Human Genetics and Genomics is also fully supported by a suite of online resources at www.korfgenetics.com, including: Factsheets on 100 genetic disorders, ideal for study and exam preparation Interactive Multiple Choice Questions (MCQs) with feedback on all answers Links to online resources for further study Figures from the book available as PowerPoint slides, ideal for teaching purposes The perfect companion to the genetics component of both problem-based learning and integrated medical courses, Human Genetics and Genomics presents the ideal balance between the bio-molecular basis of genetics and clinical cases, and provides an invaluable overview for anyone wishing to engage with this fast-moving discipline.

Enhancing Scientific Reproducibility In Biomedical Research Through Transparent Reporting

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Author : National Academies of Sciences, Engineering, and Medicine
language : en
Publisher: National Academies Press
Release Date : 2020-05-28

Enhancing Scientific Reproducibility In Biomedical Research Through Transparent Reporting written by National Academies of Sciences, Engineering, and Medicine and has been published by National Academies Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2020-05-28 with Medical categories.

Sharing knowledge is what drives scientific progress - each new advance or innovation in biomedical research builds on previous observations. However, for experimental findings to be broadly accepted as credible by the scientific community, they must be verified by other researchers. An essential step is for researchers to report their findings in a manner that is understandable to others in the scientific community and provide sufficient information for others to validate the original results and build on them. In recent years, concern has been growing over a number of studies that have failed to replicate previous results and evidence from larger meta-analyses, which have pointed to the lack of reproducibility in biomedical research. On September 25 and 26, 2019, the National Academies of Science, Engineering, and Medicine hosted a public workshop in Washington, DC, to discuss the current state of transparency in the reporting of preclinical biomedical research and to explore opportunities for harmonizing reporting guidelines across journals and funding agencies. Convened jointly by the Forum on Drug Discovery, Development, and Translation; the Forum on Neuroscience and Nervous System Disorders; the National Cancer Policy Forum; and the Roundtable on Genomics and Precision Health, the workshop primarily focused on transparent reporting in preclinical research, but also considered lessons learned and best practices from clinical research reporting. This publication summarizes the presentation and discussion of the workshop.

Genetic Analysis Of Animal Models To Understand The Genomic Architecture Of Substance Use Disorders

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Author : Gary T. Hardiman
language : en
Publisher: Frontiers Media SA
Release Date : 2022-11-03

Genetic Analysis Of Animal Models To Understand The Genomic Architecture Of Substance Use Disorders written by Gary T. Hardiman and has been published by Frontiers Media SA this book supported file pdf, txt, epub, kindle and other format this book has been release on 2022-11-03 with Medical categories.

Dna Technology In Forensic Science

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Author : National Research Council
language : en
Publisher: National Academies Press
Release Date : 1992-02-01

Dna Technology In Forensic Science written by National Research Council and has been published by National Academies Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 1992-02-01 with Science categories.

Matching DNA samples from crime scenes and suspects is rapidly becoming a key source of evidence for use in our justice system. DNA Technology in Forensic Science offers recommendations for resolving crucial questions that are emerging as DNA typing becomes more widespread. The volume addresses key issues: Quality and reliability in DNA typing, including the introduction of new technologies, problems of standardization, and approaches to certification. DNA typing in the courtroom, including issues of population genetics, levels of understanding among judges and juries, and admissibility. Societal issues, such as privacy of DNA data, storage of samples and data, and the rights of defendants to quality testing technology. Combining this original volume with the new update-The Evaluation of Forensic DNA Evidence-provides the complete, up-to-date picture of this highly important and visible topic. This volume offers important guidance to anyone working with this emerging law enforcement tool: policymakers, specialists in criminal law, forensic scientists, geneticists, researchers, faculty, and students.

Returning Individual Research Results To Participants

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Author : National Academies of Sciences, Engineering, and Medicine
language : en
Publisher: National Academies Press
Release Date : 2018-09-23

Returning Individual Research Results To Participants written by National Academies of Sciences, Engineering, and Medicine and has been published by National Academies Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2018-09-23 with Medical categories.

When is it appropriate to return individual research results to participants? The immense interest in this question has been fostered by the growing movement toward greater transparency and participant engagement in the research enterprise. Yet, the risks of returning individual research resultsâ€"such as results with unknown validityâ€"and the associated burdens on the research enterprise are competing considerations. Returning Individual Research Results to Participants reviews the current evidence on the benefits, harms, and costs of returning individual research results, while also considering the ethical, social, operational, and regulatory aspects of the practice. This report includes 12 recommendations directed to various stakeholdersâ€"investigators, sponsors, research institutions, institutional review boards (IRBs), regulators, and participantsâ€"and are designed to help (1) support decision making regarding the return of results on a study-by-study basis, (2) promote high-quality individual research results, (3) foster participant understanding of individual research results, and (4) revise and harmonize current regulations.

Responsible Conduct Of Research

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Author : Adil E. Shamoo
language : en
Publisher: Oxford University Press
Release Date : 2009-02-12

Responsible Conduct Of Research written by Adil E. Shamoo and has been published by Oxford University Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2009-02-12 with Medical categories.

Recent scandals and controversies, such as data fabrication in federally funded science, data manipulation and distortion in private industry, and human embryonic stem cell research, illustrate the importance of ethics in science. Responsible Conduct of Research, now in a completely updated second edition, provides an introduction to the social, ethical, and legal issues facing scientists today.

Exercise Genomics

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Author : Linda S. Pescatello
language : en
Publisher: Springer Science & Business Media
Release Date : 2011-03-23

Exercise Genomics written by Linda S. Pescatello and has been published by Springer Science & Business Media this book supported file pdf, txt, epub, kindle and other format this book has been release on 2011-03-23 with Medical categories.

Exercise Genomics encompasses the translation of exercise genomics into preventive medicine by presenting a broad overview of the rapidly expanding research examining the role of genetics and genomics within the areas of exercise performance and health-related physical activity. Leading researchers from a number of the key exercise genomics research groups around the world have been brought together to provide updates and analysis on the key discoveries of the past decade, as well as lend insights and opinion about the future of exercise genomics, especially within the contexts of translational and personalized medicine. Clinicians, researchers and health/fitness professionals will gain up-to-date background on the key findings and critical unanswered questions across several areas of exercise genomics, including performance, body composition, metabolism, and cardiovascular disease risk factors. Importantly, basic information on genomics, research methods, and statistics are presented within the context of exercise science to provide students and professionals with the foundation from which to fully engage with the more detailed chapters covering specific traits. Exercise Genomics will be of great value to health/fitness professionals and graduate students in kinesiology, public health and sports medicine desiring to learn more about the translation of exercise genomics into preventive medicine.

Molecular Epidemiology

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Author : Paul A. Schulte
language : en
Publisher: Academic Press
Release Date : 2012-12-02

Molecular Epidemiology written by Paul A. Schulte and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2012-12-02 with Medical categories.

This book will serve as a primer for both laboratory and field scientists who are shaping the emerging field of molecular epidemiology. Molecular epidemiology utilizes the same paradigm as traditional epidemiology but uses biological markers to identify exposure, disease or susceptibility. Schulte and Perera present the epidemiologic methods pertinent to biological markers. The book is also designed to enumerate the considerations necessary for valid field research and provide a resource on the salient and subtle features of biological indicators.