Translational and Applied Genomics – serie

Human Genome Informatics: Translating Genes into Health examines the most commonly used electronic tools for translating genomic information into clinically meaningful formats. By analyzing and comparing interpretation methods of whole genome data, the book discusses the possibilities of their application in genomic and translational medicine. Topics such as electronic decision-making tools, translation algorithms, interpretation and translation of whole genome data for rare diseases are thoroughly explored. In addition, discussions of current human genome databases and the possibilities of big data in genomic medicine are presented.

With an updated approach on recent techniques and current human genomic databases, the book is a valuable source for students and researchers in genome and medical informatics. It is also ideal for workers in the bioinformatics industry who are interested in recent developments in the field.

Originally thought to be available only to the world's wealthiest nations, genomic medicine has developed into a broad range of clinical methods and technologies whose concrete applications are also revolutionizing health systems in many of the world's resource-limited nations. Genomic Medicine in Emerging Economies: Genomics for Every Nation provides in-depth analysis and key examples of the implementation of medical genomics in low-income nations across the globe, demonstrating how this advancing medical science has already transformed health systems and led to improved patient care in Indonesian, Chilean, Malaysian, Argentinian, Chinese, Sri Lankan, and Colombian populations among others. In addition to defining tools, diagnostics, and treatment pathways at the population-wide level for medical geneticists, genomic researchers, and public health workers to apply in their own work, this book offers an essential, case-study based approach needed to understand how genomic medicine can be used to improve disease-management in a diverse range of economic and social contexts.

Applied Genomics and Public Health examines the interdisciplinary and growing area of how evidence-based genomic knowledge can be applied to public health, population health, healthcare and health policies. The book gathers experts from a variety of disciplines, including life sciences, social sciences, and health care to develop a comprehensive overview of the field. In addition, the book delves into subjects such as pharmacogenomics, genethics, big data, data translation and analysis, economic evaluation, genomic awareness and education, sociology, pricing and reimbursement, policy measures and economic evaluation in genomic medicine. This book is essential reading for researchers and students exploring applications of genomics to population and public health. In addition, it is ideal for those in the biomedical sciences, medical sociologists, healthcare professionals, nurses, regulatory bodies and health economists interested in learning more about this growing field.

Secondary Findings in Genomic Research offers a single, highly accessible resource on interpreting, managing and disclosing secondary findings in genomic research. With chapters written by experts in the field, this book is the first to concisely explain the ethical and practical issues raised by secondary genomics findings for a multi and interdisciplinary audience of genomic researchers, translational scientists, clinicians, medical students, genetic counselors, ethicists, legal experts and law students, public policy specialists and regulators.

Contributors from Europe, North America, and Asia effectively synthesize perspectives from a spectrum of different scientific, societal, and global contexts, and offer pragmatic approaches to a range of topics, including oversight, governance and policy surrounding secondary genomic results, criteria for identifying results for return, communication and consent, stakeholders' attitudes and perspectives, disclosing results, and clinical, patient-centered protocols.

Cellular and Animal Models in Human Genomics Research provides an indispensable resource for applying comparative genomics in the annotation of disease-gene associated variants that are identified by human genomic sequencing. The book presents a thorough overview of effective protocols for the use of cellular and animal modeling methods to turn lists of plausible genes into causative biomarkers. With chapters written by international experts, the book first addresses the fundamental aspects of using cellular and animal models in genetic and genomic studies, including in-depth examples of specific models and their utility, i.e., yeast, worms, flies, fish, mice and large animals.

Protocols for properly conducting model studies, genomic technology, modeling candidate genes vs. genetic variants, integrative modeling, utilizing induced pluripotent stem cells, and employing CRISPR-Cas9 are also discussed in-depth.

Microbiomics: Dimensions, Applications, and Translational Implications of Human and Environmental Microbiome Research describes a new, holistic approach to microbiomics. International experts provide in-depth discussion of current research methods for studying human, environmental, viral and fungal microbiomes, as well as the implications of new discoveries for human health, nutrition, disease, cancer research, probiotics and in the food and agricultural industries. Distinct chapters covering culturomics and sub-microbiomes, such as the viriome and mycetobiome, provide an integrative framework for the expansion of microbiomics into new areas of application, as well as crosspollination between research areas.

Detailed case studies include the use of microbiomics to develop natural products with antimicrobial properties, microbiomic enhancements in food and beverage technology, microbes for bioprotection and biopreservation, microbial tools to reduce antibiotic resistance, and maintenance and cultivation of human microbial communities.

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.

Genome Plasticity in Health and Disease provides a fully up-to-date overview on genome plasticity and its role in human physiology and disease. Following an introduction to the field, a diverse range of chapters cover genomic and epigenomic analysis and the use of model organisms and genomic databases in studies. Specific molecular and biochemical mechanisms of genome plasticity are examined, including somatic variants, De Novo variants, founder variations, isolated populations dynamics, copy-number variations, mobile elements, DNA methylation, histone modifications, transcription factors, non-coding RNAs, telomere dynamics and RNA editing.

Later chapters explore disease relevance for cancer, as well as cardiovascular, neuropsychiatric, inflammatory, and endocrine disease, and associated pathways for drug discovery.

**Selected for Doody’s Core Titles� 2024 in Clinical Genetics**Psychiatric Genomics presents and synthesizes available knowledge in the field of psychiatric genomics, offering methodologies to advance new research and aid clinical translation. After providing an introduction to genomics and psychiatry, international experts discuss the genomic basis of schizophrenia, bipolar disorder, depression, personality disorders, anxiety disorders, addictions, eating disorders, and sleep disorders, among other disorders. In addition, recommendations for next steps in clinical implementation and drug discovery are discussed in-depth, with chapters dedicated to pharmacogenomics and antipsychotics, antidepressants and mood stabilizers, adverse drug reactions, implementation of pharmacogenomics in psychiatric clinics, and ethical issues.

Finally, methods sections provide a solid grounding in research approaches and computational analytics, from using animal models in psychiatric genomics and accessing biobanks, to employing computational analysis, genome-wide association studies (GWAS), brain pathophysiology, and endophenotypes in psychiatric research.

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.

Genomics in Biosecurity: Principles and Applications of Genomic Technologies in Expanded Biosecurity Concepts, in the Translational and Applied Genomics series, explains in definite and practical terms the applicability of genomic technologies in every aspect of biosecurity, from emergent diagnostics to bioterrorism, agroterrorism, next generation biowarfare, biosurveillance and risk assessment. This book offers an integrated discussion of genomics and GCBR (global catastrophic biological risks) events, considering both basic aspects of biosecurity genomics and application of genomic technologies to drive new solutions. Readers will find evidence-based strategies to apply genomics in disease and pathogen monitoring and diagnosis, and more.

Social aspects of GCBR events and genomic biosecurity, such as issues of terrorism, policy ethics, and practice, are also considered in-depth.

Genomics and the Global Bioeconomy, a new volume in the Translational and Applied Genomics series, empowers researchers, administrators, and sustainability leaders to apply genomics and novel omics technologies to advance the global bioeconomy and sustainability. Here, more than 15 international experts illustrate-with concrete examples across various industries and areas of global need-how genomics is addressing some of the most pressing global challenges of our time. Chapters offer an in-depth, case-based treatment of various topics, from genomics technologies supporting sustainability development goals to novel synthetic biology advancements improving biofuel production, conservation, sustainable food production, bioremediation, and genomic monitoring.

Editors Catalina Lopez-Correa and Adrian Suarez-Gonzalez skillfully bring clarity to this diverse and increasingly impactful research, uniting various perspectives to inspire fresh innovation in driving the global bioeconomy.

Population Genomics in the Developing World: Concepts, Applications, and Challenges, a new volume in the Translational and Applied Genomics series, provides a comprehensive, up-to-date summary of the field of population genomics in developing countries. This book equips students, researchers, and clinicians with the practical skills and approaches necessary to face the unique challenges and opportunities of practicing population genomics in developing countries. Following a brief foundational overview, more than a dozen authors working in developing nations share applied case studies from the field, including rationale, methods, analysis, and outcomes to reinforce understanding. Key themes across the country-specific chapters include efficient genetic data generation and effective computational and statistical tools to analyze population-level data. This book then discusses clinical interpretation of these data, from direct-to-consumer ancestry testing to translational and applied precision medicine. A final chapter considers the ethical aspects of conducting genomic research in developing countries.