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Elsevier

Books in Human genetics

  • Lifestyle Epigenomics

    • 1st Edition
    • Ana B Crujeiras
    • English
    Lifestyle Epigenomics, a new volume in the Translational Epigenetics series, comprehensively details the interplay between lifestyle factors and epigenetic modifications associated with the onset of noncommunicable diseases and aging, shedding light on potential preventive and therapeutic strategies for disease from an epigenomics perspective. Here, more than 35 international experts in the field consider how lifestyle choices or habits can condition or prevent disease, along with tools for new research, from bioinformatics methodology to non-invasive sampling.Early, foundational chapters are followed by all-inclusive sections on epigenetic machinery in health and disease; dietary factors and epigenetics; adiposity and physical activity and epigenetics; psychological stress, social environment, toxins and contaminants exposure effects on epigenetics; and transgenerational and childhood epigenetics. To support understanding, each chapter includes a summary and key points lists, terms and definition, as well as research case studies outlining core components of recent studies, detailing their conditions, research techniques involved, and outcomes.

  • Genome Chaos

    Rethinking Genetics, Evolution, and Molecular Medicine
    • 2nd Edition
    • Henry H. Heng
    • English
    Genome Chaos: Rethinking Genetics, Evolution, and Molecular Medicine, Second Edition transports readers from Mendelian genetics to 4D genomics, building a case for genes and genomes as distinct biological entities where the genome, rather than individual genes, defines system-level inheritance and represents a clear unit of selection for macroevolution. In this thought-provoking text, Dr. Henry Heng invigorates fresh discussions in Genome Architecture Theory and helps readers reevaluate their current understanding of human genetics, evolution, and new pathways for advancing molecular and precision medicine.In this timely new edition, Dr. Heng fully embraces the integration of system information with genome-mediated evolutionary mechanisms, and supports this framework with recent findings and growing, interdisciplinary research. Ten evidence-based chapters discuss 4D genomics, genes and genomes as distinct biological entities, genome chaos and cellular macroevolution, karyotype coding and fuzzy inheritance, as well as an entirely novel model of evolution driven by information flow, and more. Brand-new chapters consider the creation and maintenance of system information for complexity and biodiversity, as well as modes of analyzing information-based and historically contingent evolutionary framework. This synthesis offers a revolutionary paradigm of evolutionary theory. It also hypothesizes about how information flow, matter arrangement, and energy interact.

  • Metagenomics

    Perspectives, Methods, and Applications
    • 2nd Edition
    • Muniyandi Nagarajan
    • English
    Metagenomics: Perspectives, Methods, and Applications, second edition, provides thorough coverage of the growing field of metagenomics. A diverse range of chapters from international experts offer an introduction to the field and examine methods for metagenomic analysis of microbiota, metagenomic computational tools, and recent metagenomic studies in various environments and clinical settings. The emphasis on application makes this text particularly useful for applied researchers, practitioners, clinicians, and students seeking to employ metagenomic approaches to advance knowledge in the biomedical and life sciences. Case study-based application chapters include topics ranging from metagenome tools, metagenomics in oral disease and health, metagenomic insights into the human gut microbiome and metabolic syndromes, and more. This new edition has been fully updated to address the rapid growth and development of metagenomics applications, featuring expert discussion of recent developments and fresh case studies. Newly added chapters instruct in methods and implications of metagenomics in areas of growing focus, such as microbiome research, clinical diagnosis, metagenomic epidemiology, and plant microbe interaction. Data analysis is explained in simple terms for effective use of computational tools, software, and sequencing pipelines.

  • Personalized Epigenetics

    • 2nd Edition
    • Trygve Tollefsbol
    • English
    Personalized Epigenetics, Second Edition discusses the core translatability of epigenetics to health management of individuals who have unique variations in their epigenetic signatures that can guide both disorder and disease prevention and therapy. Fully updated and revised, this new edition details inter-individual variability in the major epigenetic process in humans consisting of DNA methylation, histone modifications, noncoding RNA, and the diagnostic, prognostic, and therapeutic potential of the field. It also reviews the impact of the environment on epigenetic variations among individuals and the role of pharmacology and drug development in personalized epigenetics.Most importantly, the text covers personalized epigenetics from a disease-oriented perspective, presenting chapters that provide advances in widespread disorders or diseases, including diabetes, cancer, autoimmune disorders, obesity, cardiovascular diseases, neurological disorders, and pain management.

  • Phylogenomics

    Foundations, Methods, and Pathogen Analysis
    • 1st Edition
    • Igor Mokrousov + 1 more
    • English
    Phylogenomics: Foundations, Methods, and Pathogen Analysis offers a deep overview of phylogenomics as a field, compelling recent developments, and detailed methods and approaches for conducting new research. Early chapters introduce phylogenomic analysis of viruses and bacteria, deciphering bacterial outbreaks, and evolution of drug resistance and virulence, with a second section on methods offering instruction in tools for SNP calling and dealing with big datasets, use of Bayesian approach in molecular epidemiology, bacterial evolution modeling and evolutionary reconstruction in the presence of mosaic sequences. Part 3 offers various examples of phylogenomic analysis across medically significant bacteria and viruses, including Yersinia pestis, Salmonella, Mycobacterium tuberculosis, HIV-1, measles virus as well as ancient pathogens research.

  • Clinical Genomics

    A Guide to Clinical Next Generation Sequencing
    • 2nd Edition
    • Shashikant Kulkarni + 1 more
    • English
    Clinical Genomics, Second Edition is a comprehensive, practical reference [AN1] designed specifically for laboratory directors, clinical medical directors, and genomic medicine professionals. Edited by renowned genomic pathology leaders Kulkarni and Roy, this updated edition offers clear guidance on the current technical, bioinformatic, clinical, regulatory, and reimbursement considerations involved in implementing next-generation sequencing technologies within clinical molecular diagnostic laboratories.Structu... for ease of reference, this book covers targeted gene sequencing methods, whole exome/genome approaches, emerging technologies such as long-read sequencing, and critical considerations for assay validation. Detailed sections address bioinformatics workflows, variant detection and interpretation methodologies, integration with clinical informatics systems, and essential IT infrastructure, including cloud-based solutions.This book also thoroughly addresses practical topics essential to laboratory management, such as regulatory compliance, ethical frameworks, billing strategies, and reimbursement paradigms, helping directors navigate the evolving landscape of genomic diagnostics.

  • Applications of Metagenomics

    Agriculture, Environment, and Health
    • 1st Edition
    • Hrudayanath Thatoi + 2 more
    • English
    Applications of Metagenomics: Agriculture, Environment, and Health examines current metagenomics methods and their applications in soil, polluted environment sites, agriculture production, and health care, with separate sections dedicated to each application area. Special attention is paid to the biotechnological study of novel microbial resources for social welfare. Beyond applications, the book discusses evolving next generation technology and techniques used for carrying out metagenomics studies, and in doing so highlights the latest research and advances in the field, along with ways to adapt these approaches for different study types across the biological sciences.Chapter topics range from metagenomics for studying root microbial communities to microbial diversity of the rhizosphere, fungal diversity, microbial biodiversity in forest environments, the human microbiome, and disease epidemiology, with one chapter dedicated to Covid-19 metagenomics.

  • Epigenetics in Human Disease

    • 3rd Edition
    • Trygve O. Tollefsbol
    • English
    Epigenetics in Human Disease, Third Edition examines the diseases and conditions on which we have advanced knowledge of epigenetic mechanisms, such as cancer, autoimmune disorders, aging, metabolic disorders, neurobiological disorders and cardiovascular disease. From molecular mechanisms and epigenetic technology to clinical translation of recent research, the nature and applications of the science is presented for those with interests ranging from the fundamental basis of epigenetics to therapeutic interventions for epigenetic-based disorders, with an emphasis throughout on understanding and application of key concepts in new research and clinical practice. Fully revised and up-to-date, this Third Edition discusses topics of current interest in epigenetic disease research, including stem cell epigenetic therapy, bioinformatic analysis of NGS data, epigenetic mechanisms of imprinting disorders, microRNA in cancer, epigenetic approaches to control obesity, epigenetics and airway disease, and epigenetics in cardiovascular disease. Further sections explore online epigenetic tools and datasets; early-life programming of epigenetics in age-related diseases; the epigenetics of addiction and suicide, and epigenetic approaches to regulating and preventing diabetes, cardiac disease, allergic disorders, Alzheimer’s disease, respiratory diseases, and many other human maladies. In addition, each chapter now includes chapter summaries, definitions, and vibrant imagery and figures to reinforce understanding, as well as step-by-step methods and disease research case studies.

  • Artificial Intelligence, Machine Learning, and Deep Learning in Precision Medicine in Liver Diseases

    Concept, Technology, Application and Perspectives
    • 1st Edition
    • Tung-Hung Su + 1 more
    • English
    Artificial Intelligence, Machine Learning, and Deep Learning in Precision Medicine and Liver Diseases: Concept, Technology, Application, and Perspectives combines four major applications of artificial intelligence (AI) within the field of clinical medicine specific to liver diseases: radiology imaging, electronic health records, pathology, and multiomics. The book provides a state-of-the-art summary of AI in precision medicine in hepatology, clarifying the concept and technology of AI and pointing to the current and future applications of AI within the field of hepatology. Coverage includes data preparation, methodology and application within disease-specific cases in fibrosis, viral and steatohepatitis, cirrhosis, hepatocellular carcinoma, acute liver failure, liver transplantation, and more. The ethical and legal issues of AI and future challenges and perspectives are also discussed. By highlighting many new AI applications which can further research, diagnosis, and treatment, this reference is the perfect resource for both practicing hepatologists and researchers focused on AI applications in medicine.

  • Cognitive Archaeology, Body Cognition, and the Evolution of Visuospatial Perception

    • 1st Edition
    • Emiliano Bruner
    • English
    Cognitive Archaeology, Body Cognition, and the Evolution of Visuospatial Perception offers a multidisciplinary and comprehensive perspective on the evolution of the visuospatial ability in the human genus. It presents current topics in cognitive sciences and prehistoric archaeology, to provide a bridge between evolutionary anthropology and neurobiology. This book explores how body perception and spatial sensing may have evolved in humans, as to enhance a “prosthetic capacity” able to integrate the brain, body, and technological elements into a single functional system. It includes chapters on touch and haptics, peripersonal space, parietal lobe evolution, somatosensory integration, neuroarchaeology, visual behavior, attention, and psychometrics. Cognitive Archaeology, Body Cognition, and the Evolution of Visuospatial Perception represents an essential resource for evolutionary biologists, anthropologists, archaeologists, and neuroscientists who are interested in the role of body perception and spatial ability in human cognition.

  • Sex, Gender, and Epigenetics

    From Molecule to Bedside
    • 1st Edition
    • Marianne Legato J + 2 more
    • English
    Sex, Gender, and Epigenetics: From Molecule to Bedside explores our expanding knowledge of the science of epigenetics in which gene expression is modified as a consequence of small chemical additions to various components of the genome. The book provides an overview of the field, describing the epigenetic phenomena that unite biological sex and environmental experience to create the unique phenome of each individual. The book also analyzes the impact of ancestors’ environmental experience on subsequent generations through the sex-specific transmission of environmentally induced epigenetic modifications. Here, international leaders in the field discuss both sex-specific normal physiology and the experience of disease, with chapters dedicated to fetal programming, the microbiome, cancer, bipolar disorder and schizophrenia, embryogenesis, and oocyte aging, among other topics.

  • Epigenetics in Organ Specific Disorders

    • 1st Edition
    • Volume 34
    • English
    **Selected for Doody’s Core Titles® 2024 in Clinical Genetics**Epigenetic... in Organ Specific Disorders, a new volume in the Translational Epigenetics series, provides a foundational overview and nuanced analysis of epigenetic gene regulation distinct to each organ type and organ specific disorders, fully elucidating the epigenetics pathways that promote and regulate disease. After a brief introduction, chapter authors compare epigenetic regulations across normal and disease conditions in different organ tissues, exploring similarities and contrasts. The role of epigenetic mechanisms in stem cells, cell-matrix interactions and cell proliferation, cell migration, cellular apoptosis, necrosis, pyknosis, tumor suppression, and immune responses across different organ types are examined in-depth.Organ specific epigenetic mechanisms and biomarkers of early use in developing drugs, which can selectively target the organ of interest, are also explored to enable new precision therapies.

  • Genomic Data Sharing

    Case Studies, Challenges, and Opportunities for Precision Medicine
    • 1st Edition
    • Jennifer B. Mccormick + 1 more
    • English
    Genomic Data Sharing: Case Studies, Challenges, and Opportunities for Precision Medicine provides a comprehensive overview of current and emerging issues in genomic data sharing. In this book, international leaders in genomic data examine these issues in-depth, offering practical case studies that highlight key successes, challenges and opportunities. Sections discuss the eMERGE Network, Undiagnosed Disease Network, Vanderbilt Biobank, Marshfield Clinic Biobank, Minnesota Authorization, Rochester Epidemiology Project, NIH sponsored biobanks, GINA, and Global Alliance for Genomics and Health (GA4GH). In addition to these perspectives from the frontlines, the book also provides succinct overviews of ethical, legal, social and IT challenges.Clinician investigators, clinicians affiliated with academic medical centers, policymakers and regulators will also gain insights that will allow them to navigate the increasingly complex ethical, social and clinical landscape of genomic data sharing.

  • Genomics and the Global Bioeconomy

    • 1st Edition
    • Catalina Lopez-Correa + 1 more
    • English
    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.

  • Epigenetics and DNA Damage

    • 1st Edition
    • Volume 33
    • Miriam Galvonas Jasiulionis
    • English
    Although scientists recognize the role of epigenetic mechanisms in DNA damage response, the complex, mechanistic interplay between chromatin regulation and DNA repair is still poorly understood. Comprehending how these processes are connected in time and space and play out in developmental processes may reveal novel directions for new research and disease treatment. Epigenetics and DNA Damage, a new volume in the Translational Epigenetics series, offers a thorough grounding in the relationship between DNA Damage, epigenetic modifications, and chromatin regulation. Early chapters address the basic science of DNA damage and its association with various epigenetic mechanisms, including DNA methylation, post-translational histone modifications, histone variants, chromatin remodeling, miRNAs, and lncRNAs. This is followed by a close discussion of DNA damage and epigenetics in metabolism, aging, cellular differentiation, immune function, stem cell biology, and cancer, tying recent research to translational application in disease understanding. Later chapters examine possible epigenetic therapies combining DNA damage induction and epigenetic alteration, as well as instructive chapters on how to analyze DNA damage and epigenetic alterations in new research.

  • Post-transcriptional Gene Regulation in Human Disease

    • 1st Edition
    • Volume 32
    • Buddhi Prakash Jain + 2 more
    • English
    Post-transcriptional Gene Regulation in Human Disease, a new volume in the Translational Epigenetics book series, offers a thorough overview and discussion of post-transcriptional genetic control mechanisms and their roles across various pathologies and human developmental outcomes, along with regulatory mechanisms targeted for therapeutic approaches. The book is broadly divided in two parts: early chapters describe the basics of post-transcriptional gene regulation, associated epigenetic mechanisms, the role of RNA binding proteins, the evolution of post-transcriptional gene regulation, and methods to study these mechanisms. The second half of the book includes deeper discussion of post-transcriptional gene regulation across specific diseases and therapeutics targets. Various post-transcriptional events, including alternative splicing and polyadenylation, mRNA stability, and miRNAs and their involvement in the disease progression, are examined in detail.

  • Clinical Decision Support for Pharmacogenomic Precision Medicine

    Foundations and Implementation
    • 1st Edition
    • Beth Devine + 2 more
    • English
    Clinical Decision Support for Pharmacogenomic Precision Medicine: Foundations and Implementation offers overviews, methods and strategies for translating genomic medicine to clinical practice. The book's authors explore incorporating pharmacogenetics into electronic health records, CDS methods and infrastructure for delivery, economic evaluation, the hospital administrations’ role and needs in integration, and patient counseling aspects. The book empowers clinicians, researchers, translational scientists, and data and IT experts to effectively navigate the complex landscape of CDS for pharmacogenomic precision medicine. Illustrative case studies of existing gene networks include CSER, eMERGE, the IGNITE network, DIGITIZE, the CDS Learning Network (RTI), ClinGen, Ubiquitous and CDS Hooks.

  • Genomic and Precision Medicine

    Oncology
    • 3rd Edition
    • Geoffrey S. Ginsburg + 3 more
    • English
    Genomic and Precision Medicine: Oncology, Third Edition focuses on the applications of genome discovery as research points to personalized cancer therapies. Each chapter is organized to cover the application of genomics and personalized medicine tools and technologies to a) Risk Assessment and Susceptibility, b) Diagnosis and Prognosis, c) Pharmacogenomics and Precision Therapeutics, and d) Emerging and Future Opportunities in the field.

  • Psychiatric Genomics

    • 1st Edition
    • Evangelia Eirini Tsermpini + 2 more
    • English
    **Selected for Doody’s Core Titles® 2024 in Clinical Genetics**Psychiatri... 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.

  • Epigenetics in Precision Medicine

    • 1st Edition
    • Volume 30
    • Jose Luis Garcia-Gimenez
    • English
    In recent years, knowledge of epigenetic mechanisms underlying disease onset and progression has proven crucial for the development of novel early diagnosis and prognosis biomarkers for patient stratification and precision medicine. Epigenetics in Precision Medicine, a new volume in the Translational Epigenetics series, provides a thorough discussion and overview of current developments in clinical epigenetics with special emphasis on epigenetic biomarkers that can be used for clinical diagnosis, prognosis, patient stratification, and treatment monitoring. Disease types discussed include cancer, metabolic disorders, neurodegenerative diseases, bone disease, and immune-related disorders. The book examines the challenges of advancing epigenetics research and translating findings to the clinic and drug discovery in each of these areas, as well as current solutions; chapter authors discuss how to leverage epigenomic technologies, applications, and tools, such as next-generation sequencing, to discover new epigenetic biomarkers in disease and drug studies. Epigenetics in Precision Medicine focuses on complex epigenetic mechanisms in several pathologies, and explores how epigenetics can power the advance of precision medicine, not only by improving in vitro diagnostic and prognostic tools, but by providing new therapeutic approaches to treat human disease.

  • Progress in Genomic Medicine

    From Research to Clinical Application
    • 1st Edition
    • Moyra Smith
    • English
    Progress in Genomic Medicine: From Research to Clinical Application provides a careful synthesis of the foundations, current trends and translational challenges in genomic medicine, clarifying pathways forward and enabling genomic medicine research and implementation across clinical settings and treatment development. Sections address the history and growth of genetic medicine, with a discussion of key studies in syndrome delineations, inherited diseases, biochemical genetics, and chromosome abnormalities, overview clinical applications made possible through genomic advances, with chapters on DNA sequencing for clinical genetic diagnosis, genotype-phenotype correlations in individuals and across populations, new-born screening for treatable genetic disorders, and more. In addition, social, ethical and public health aspects of applying genomic technologies are included throughout. Here, Dr. Smith applies her experience and participation in the field, across its major milestones, to put current research, clinical advances, and ongoing questions in context.

  • Prenatal Genetic Counseling

    Practical Support for Prenatal Diagnostics, Decision-Making, and Dealing with Uncertainty
    • 1st Edition
    • Sam Riedijk + 1 more
    • English
    **Selected for Doody’s Core Titles® 2024 in Clinical Genetics**Prenatal Genetic Counseling: Practical Support for Prenatal Diagnostics, Decision-Making, and Dealing with Uncertainty provides a foundation for new research and a one-stop source for physicians, genetic counselors, psychologists, social workers, general practitioners, grief workers, translational researchers, and administrators seeking to work in the field of clinical genomics ethically and in full consideration of patients’ psychological well-being. Here, an international team of experienced counselors and clinician-scientists lay out the range of methods and technologies applied in prenatal decision-making, including NIPT; invasive testing with microarray analysis or whole genome sequencing; ultrasound screening; and prenatal diagnosis for known hereditary conditions, among others. From here, they examine specific challenges in the clinical translation. In a field where decisions about life or death of a child are made, professionals are bound to encounter uncertainty. This book was co-created by health care practitioners, scientists, patients and students to provide insights and direction for offering support straight from the heart to couples faced with fetal anomalies. To make this possible for all couples, diversity in prenatal genetic counseling is also addressed. Finally, next steps in prenatal genetic counseling research and clinical implementation are discussed. As we are challenged by the rapid advances in prenatal genomics, so are our patients. Learning from our patients with every encounter, this book aims to offer access to the insights we gathered as well as to stimulate lifelong learning.

  • Reciprocity in Population Biobanks

    Relational Autonomy and the Duty to Inform in the Genomic Era
    • 1st Edition
    • Ma’n H. Zawati
    • English
    Reciprocity in Population Biobanks: Relational Autonomy and the Duty to Inform in the Genomic Era begins by discussing how current judicial interpretation keeps standard of disclosure at the core of genomic research. The book then outlines multiple limitations individualistic autonomy faces in the context of gene and population biobanks, including an analysis of the complexities of benefit considerations in the research setting. Second, the book explores how individualistic autonomy fails to acknowledge the multilateral relationships implicated in genomic research, including those that affect the broader research community, research participants’ families, and the general public. In carrying out this analysis, this book pays special attention to alternative approaches and ways researchers, public health officials, and judicial bodies might interact in years to come. In other words, implementing an understanding of relational autonomy that acknowledges and sustains the multilateral relationships found in genomic research without　compromising the rights of participants. In short, this book proposes a reconceived duty to inform for researchers and a new standard of disclosure that is more meaningful and impactful for research participants and researchers.

  • Twin and Family Studies of Epigenetics

    • 1st Edition
    • Volume 27
    • Shuai Li + 1 more
    • English
    Twin and Family Studies of Epigenetics, Volume 27, the latest release in the Translational Epigenetics series, gathers expert opinions on epigenetic twin and family study research methods, recent findings across various disease areas, and future directions. The book provides in-depth coverage of epigenetics fundamentals, twin and family epigenetic study design, and the broader role of epigenetics in answering questions on the developmental origins of health and disease. Throughout the volume, twin and family studies are employed to examine causes of epigenetic variation, the relationship between epigenetic modifications and mental illness, cancers, cardiovascular disease, diabetes, obesity, high blood pressure, and more. Emerging research methods applied in twin and family studies discussed include imaging epigenetics, exposure-specific DNA methylation changes, and unravelling time trends in epigenetic effects.

  • Genome Stability

    From Virus to Human Application
    • 2nd Edition
    • Volume 26
    • Igor Kovalchuk + 1 more
    • English
    Genome Stability: From Virus to Human Application, Second Edition, a volume in the Translational Epigenetics series, explores how various species maintain genome stability and genome diversification in response to environmental factors. Here, across thirty-eight chapters, leading researchers provide a deep analysis of genome stability in DNA/RNA viruses, prokaryotes, single cell eukaryotes, lower multicellular eukaryotes, and mammals, examining how epigenetic factors contribute to genome stability and how these species pass memories of encounters to progeny. Topics also include major DNA repair mechanisms, the role of chromatin in genome stability, human diseases associated with genome instability, and genome stability in response to aging. This second edition has been fully revised to address evolving research trends, including CRISPRs/Cas9 genome editing; conventional versus transgenic genome instability; breeding and genetic diseases associated with abnormal DNA repair; RNA and extrachromosomal DNA; cloning, stem cells, and embryo development; programmed genome instability; and conserved and divergent features of repair. This volume is an essential resource for geneticists, epigeneticists, and molecular biologists who are looking to gain a deeper understanding of this rapidly expanding　field, and can also be of great use to advanced students who are looking to gain additional expertise in genome stability.

  • Epigenetics of Exercise and Sports

    Concepts, Methods, and Current Research
    • 1st Edition
    • Volume 25
    • Stuart M Raleigh
    • English
    Epigenetics of Exercise and Sports: Concepts, Methods, and Current Research explains fundamental epigenetic processes and how these are altered by exercise and sports. After a brief review of fundamental epigenetic biology, this all-new volume in the Translational Epigenetics series offers step-by-step instruction in how epigenetic factors are investigated for their influence over exercise related traits of human physiology, disease, and injury. The current state of knowledge in the field and recent findings are discussed in-depth, illuminating how exercise and sports performance may epigenetically modify our physiology, disease and injury risks, and how this knowledge can be applied in personalized exercise approaches, diagnostics, and treatment. This book also explores the shortcomings of explaining exercise related phenomena using only genomics and traditional biochemical techniques, setting the scene for a paradigm shift in exercise biology. In addition, over a dozen international specialists contribute chapters on exercise and sports epigenetics, and their influence over metabolism, obesity, aging, immunity, and neurological disease, as well as the epigenetic impacts of concussions and sports doping. A concluding chapter discusses ongoing themes in the field and outlooks for future research.

  • Cytogenomics

    • 1st Edition
    • Thomas Liehr
    • English
    Cytogenomics demonstrates that chromosomes are crucial in understanding the human genome and that new high-throughput approaches are central to advancing cytogenetics in the 21st century. After an introduction to (molecular) cytogenetics, being the basic of all cytogenomic research, this book highlights the strengths and newfound advantages of cytogenomic research methods and technologies, enabling researchers to jump-start their own projects and more effectively gather and interpret chromosomal data. Methods discussed include banding and molecular cytogenetics, molecular combing, molecular karyotyping, next-generation sequencing, epigenetic study approaches, optical mapping/karyomapping... and CRISPR-cas9 applications for cytogenomics. The book’s second half demonstrates recent applications of cytogenomic techniques, such as characterizing 3D chromosome structure across different tissue types and insights into multilayer organization of chromosomes, role of repetitive elements and noncoding RNAs in human genome, studies in topologically associated domains, interchromosomal interactions, and chromoanagenesis. This book is an important reference source for researchers, students, basic and translational scientists, and clinicians in the areas of human genetics, genomics, reproductive medicine, gynecology, obstetrics, internal medicine, oncology, bioinformatics, medical genetics, and prenatal testing, as well as genetic counselors, clinical laboratory geneticists, bioethicists, and fertility specialists.

  • Epigenetics in Cardiovascular Disease

    • 1st Edition
    • Volume 24
    • Yvan Devaux + 1 more
    • English
    Epigenetics in Cardiovascular Disease, a new volume in the Translational Epigenetics series, offers a comprehensive overview of the epigenetics mechanisms governing cardiovascular disease development, as well as instructions in research methods and guidance in pursing new studies. More than thirty international experts provide an (i) overview of the epigenetics mechanisms and their contribution to cardiovascular disease development, (i) high-throughput methods for RNA profiling including single-cell RNA-seq, (iii) the role of nucleic acid methylation in cardiovascular disease development, (iv) epigenetic actors as biomarkers and drug targets, (v) and the potential of epigenetics to advance personalized medicine. Here, readers will discover strategies to combat research challenges, improve quality of their epigenetic research and reproducibility of their findings. Additionally, discussion of assay and drug development for personalized healthcare pave the way for a new era of understanding in cardiovascular disease.

  • Clinical DNA Variant Interpretation

    Theory and Practice
    • 1st Edition
    • Conxi Lázaro + 2 more
    • English
    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.

  • Environmental Epigenetics in Toxicology and Public Health

    • 1st Edition
    • Volume 22
    • Rebecca Fry
    • English
    Environmental Epigenetics in Toxicology and Public Health provides in-depth discussions of the suite of complex environmental factors shown to impact epigenetic components within the cell, as well as evidence that these epigenetic modifications are tied to early and later life health effects. This book offers a translational research perspective, highlighting both in vivo and human population-based evidence for ties between the environment, the epigenome, and health outcomes, with an emphasis on evidence for transgenerational effects of exposures, as well as developmental windows of susceptibility to environmentally-link... epigenetic effects. This volume in the Translational Epigenetics series aides in the development of new therapeutic options meant to reverse inappropriate epigenetic alterations, helping researchers in their efforts prevent and treat a variety of chronic diseases tied to environmental exposures.

  • Epigenetics Methods

    • 1st Edition
    • Volume 18
    • Trygve O. Tollefsbol
    • English
    In recent years, the field of epigenetics has grown significantly, driving new understanding of human developmental processes and disease expression, as well as advances in diagnostics and therapeutics. As the field of epigenetics continues to grow, methods and technologies have multiplied, resulting in a wide range of approaches and tools researchers might employ. Epigenetics Methods offers comprehensive instruction in methods, protocols, and experimental approaches applied in field of epigenetics. Here, across thirty-five chapters, specialists offer step-by-step overviews of methods used to study various epigenetic mechanisms, as employed in basic and translational research. Leading the reader from fundamental to more advanced methods, the book begins with thorough instruction in DNA methylation techniques and gene or locus-specific methylation analyses, followed by histone modification methods, chromatin evaluation, enzyme analyses of histone methylation, and studies of non-coding RNAs as epigenetic modulators. Recently developed techniques and technologies discussed include single-cell epigenomics, epigenetic editing, computational epigenetics, systems biology epigenetic methods, and forensic epigenetic approaches. Epigenetics methods currently in-development, and their implication for future research, are also considered in-depth. In addition, as with the wider life sciences, reproducibility across experiments, labs, and subdisciplines is a growing issue for epigenetics researchers. This volume provides consensus-driven methods instruction and overviews. Tollefsbol and contributing authors survey the range of existing methods; identify best practices, common themes, and challenges; and bring unity of approach to a diverse and ever-evolving field.

  • Handbook of Clinical Adult Genetics and Genomics

    A Practice-Based Approach
    • 1st Edition
    • Shweta Dhar + 2 more
    • English
    **Selected for 2026 Doody's Core Titles in Clinical Genetics**Handbook of Clinical Adult Genetics and Genomics: A Practice-Based Approach provides a thorough overview of genetic disorders that are commonly encountered in adult populations and supports the full translation of adult genetic and genomic modalities into clinical practice. Expert chapter authors supplement foundational knowledge with case-based strategies for the evaluation and management of genetic disorders in each organ system and specialty area. Topics discussed include employing genetic testing technologies, reporting test results, genetic counseling for adult patients, medical genetics referrals, issues of complex inheritance, gene therapy, and diagnostic and treatment criteria for developmental, cardiovascular, gastrointestinal, neuropsychiatric, pulmonary issues, and much more.

  • Gene Environment Interactions

    Nature and Nurture in the Twenty-first Century
    • 1st Edition
    • Moyra Smith
    • English
    Gene Environment Interactions: Nature and Nurture in the Twenty-first Century offers a rare, synergistic view of ongoing revelations in gene environment interaction studies, drawing together key themes from epigenetics, microbiomics, disease etiology, and toxicology to illuminate pathways for clinical translation and the paradigm shift towards precision medicine. Across eleven chapters, Dr. Smith discusses interactions with the environment, human adaptations to environmental stimuli, pathogen encounters across the centuries, epigenetic modulation of gene expression, transgenerational inheritance, the microbiome’s intrinsic effects on human health, and the gene-environment etiology of cardiovascular, metabolic, psychiatric, behavioral and monogenic disorders. Later chapters illuminate how our new understanding of gene environment interactions are driving advances in precision medicine and novel treatments. In addition, the book's author shares strategies to support clinical translation of these scientific findings to improve heath literacy among the general population.

  • Epigenetic Mechanisms of the Cambrian Explosion

    • 1st Edition
    • Nelson R Cabej
    • English
    Epigenetic Mechanisms of the Cambrian Explosion provides readers with a basic biological knowledge and epigenetic explanation of the biological puzzle of the Cambrian explosion, the unprecedented rapid diversification of animals that began 542 million years ago. During an evolutionarily instant of ~10 million years, which represents only 0.3% of the time of existence of life on Earth, or less than 2% of the time of existence of metazoans, all of the 30 extant body plans, major animal groups (phyla) and several extinct groups appeared. The work helps address this phenomena and tries to answer remaining questions for evolutionary biology, epigenetics, and scientific researchers. The book recognizes and presents objective representations of alternative theories for epigenetic evolution in this period, with the author drawing on his epigenetic theory of evolution to explain the causal basis of the Cambrian explosion. Both empirical evidence and theoretical arguments are presented in support of this thought-provoking epigenetic theory.

  • Genetics and Genomics of Eye Disease

    Advancing to Precision Medicine
    • 1st Edition
    • Xiaoyi Raymond Gao
    • English
    Genetics and Genomics of Eye Disease: Advancing to Precision Medicine thoroughly examines the latest genomics methods for studying eye disease, including complex eye disorders associated with multiple genes. GWAS, WES, WGS, RNA-sequencing, and transcriptome analysis as employed in ocular genomics are discussed in-depth, as are genomics findings tied to early-onset glaucoma, strabismus, age-related macular degeneration, adult-onset glaucoma, diabetic retinopathy, keratoconus, and leber congenital amaurosis, among other diseases. Research and clinical specialists offer guidance on conducting preventative screenings and counseling patients, as well as the promise of machine learning, computational statistics and artificial intelligence in advancing ocular genomics research.

  • Nucleic Acids as Gene Anticancer Drug Delivery Therapy

    • 1st Edition
    • Loutfy H. Madkour
    • English
    Nucleic Acids as Gene Anticancer Drug Delivery Therapy highlights the most recent developments in cancer treatment using nucleic acids, nanoparticles and polymer nanoparticles for genomic nanocarriers as drug delivery, including promising opportunities for targeted and combination therapy. The development of a wide spectrum of nanoscale technologies is beginning to change the scientific landscape in terms of disease diagnosis, treatment, and prevention. This book presents the use of nanotechnology for medical applications, focusing on its use for anticancer drug delivery. Various intelligent drug delivery systems such as inorganic nanoparticles and polymer-based drug delivery are discussed. The use of smart drug delivery systems seems to be a promising approach for developing intelligent therapeutic systems for cancer immunotherapies and is discussed in detail along with nucleic acid-targeted drug delivery combination therapy for cancer. Nucleic Acids as Gene Anticancer Drug Delivery Therapy will be a useful reference for pharmaceutical scientists, pharmacologiests, and those involved in nanotechnology and cancer research.

  • Genomic and Precision Medicine

    Infectious and Inflammatory Disease
    • 3rd Edition
    • Geoffrey S. Ginsburg + 3 more
    • English
    Genomic and Precision Medicine: Infectious and Inflammatory Disease, Third Edition, provides current clinical solutions on the application of genome discovery on a broad spectrum of disease categories in IMD - including asthma, obesity and multiple sclerosis. Each chapter is organized to cover the application of genomics and personalized medicine tools and technologies, along with information on a) Risk Assessment and Susceptibility, b) Diagnosis and Prognosis, c) Pharmacogenomics and Precision Therapeutics, and d) Emerging and Future Opportunities in the field.

  • Reproductomics

    The -Omics Revolution and Its Impact on Human Reproductive Medicine
    • 1st Edition
    • José A. Horcajadas + 1 more
    • English
    Recent advances in genomic and omics analysis have triggered a revolution affecting nearly every field of medicine, including reproductive medicine, obstetrics, gynecology, andrology, and infertility treatment. Reproductomics: The –Omics Revolution and Its Impact on Human Reproductive Medicine demonstrates how various omics technologies are already aiding fertility specialists and clinicians in characterizing patients, counseling couples towards pregnancy success, informing embryo selection, and supporting many other positive outcomes. A diverse range of chapters from international experts examine the complex relationship between genomics, transcriptomics, proteomics, and metabolomics and their role in human reproduction, identifying molecular factors of clinical significance. With this book Editors Jaime Gosálvez and José A. Horcajadas have provided researchers and clinicians with a strong foundation for a new era of personalized reproductive medicine.

  • Ancestral DNA, Human Origins, and Migrations

    • 1st Edition
    • Rene J. Herrera + 1 more
    • English
    Ancestral DNA, Human Origins, and Migrations describes the genesis of humans in Africa and the subsequent story of how our species migrated to every corner of the globe. Different phases of this journey are presented in an integrative format with information from a number of disciplines, including population genetics, evolution, anthropology, archaeology, climatology, linguistics, art, music, folklore and history. This unique approach weaves a story that has synergistic impact in the clarity and level of understanding that will appeal to those researching, studying, and interested in population genetics, evolutionary biology, human migrations, and the beginnings of our species.

  • Genomic and Precision Medicine

    Cardiovascular Disease
    • 3rd Edition
    • Geoffrey S. Ginsburg + 1 more
    • English
    Genomic and Precision Medicine: Cardiovascular Disease, Third Edition, focuses on the applications of genome discovery on the broad spectrum of cardiovascular disorders. Each chapter is organized for the application of genomics and personalized medicine tools and technologies to a) Risk Assessment and Susceptibility, b) Diagnosis and Prognosis, c) Pharmacogenomics and Precision Therapeutics, and d) Emerging and Future Opportunities in the field.

  • Genomic and Precision Medicine

    Primary Care
    • 3rd Edition
    • Geoffrey S. Ginsburg + 2 more
    • English
    Genomic and Precision Medicine: Primary Care, Third Edition is an invaluable resource on the state-of-the-art tools, technologies and policy issues that are required to fully realize personalized health care in the area of primary care. One of the major areas where genomic and personalized medicine is most active is the realm of the primary care practitioner. Risk, family history, personal genomics and pharmacogenomics are becoming increasingly important to the PCP and their patients, and this book discusses the implications as they relate to primary care practitioners.

  • Genomic and Precision Medicine

    Foundations, Translation, and Implementation
    • 3rd Edition
    • Geoffrey S. Ginsburg + 1 more
    • English
    Genomic and Precision Medicine: Foundations, Translation, and Implementation highlights the various points along the continuum from health to disease where genomic information is impacting clinical decision-making and leading to more personalization of health care. The book pinpoints the challenges, barriers, and solutions that have been, or are being, brought forward to enable translation of genome based technologies into health care. A variety of infrastructure (data systems and EMRs), policy (regulatory, reimbursement, privacy), and research (comparative effectiveness research, learning health system approaches) strategies are also discussed. Readers will find this volume to be an invaluable resource for the translational genomics and implementation science that is required to fully realize personalized health care.

  • Translating MicroRNAs to the Clinic

    • 1st Edition
    • Jeffrey Laurence
    • English
    Translating microRNA to the Clinic reviews the possibilities of current methodological tools and experimental approaches used by leading translational researchers. The book features the uses of micro ribonucleic acid as deployed in cancer targeting in biomarkers, diabetes, cardiovascular disease, and neurodegeneration, among many others. Pedagogically, the work concentrates on the latest knowledge, laboratory techniques, and experimental approaches used by translational research leaders in this field, promoting a cross-disciplinary communication between the sub-specialities of medicine, but in common with other books on the topic. In addition, the book emphasizes recent innovations, critical barriers to progress, the new tools that are being used to overcome them, and specific areas of research that require additional study to advance the field as a whole.

  • Genome Stability

    From Virus to Human Application
    • 1st Edition
    • Igor Kovalchuk + 1 more
    • English
    Every species has to preserve the integrity of its genome to ensure faithful passage of genetic information to the progeny. At the same time, there are times during the life of the organism and population in general when a fine balance in genome stability and diversification has to be made to benefit the survival of the species. Genome Stability teaches the reader how various species maintain this fine balance in genome stability and genome diversification in response to their environments. Genome Stability covers a wide range of topics, including the genome stability of DNA/RNA viruses, prokaryotes, single cell eukaryotes, lower multicellular eukaryotes and mammals. Topics also include major DNA repair mechanisms, the role of chromatin in genome stability, human diseases associated with genome instability as well as changes in genome stability in response to aging. Finally, Genome Stability covers how epigenetic factors contribute to genome stability and how the species pass the memory of the encounters to the progeny, thus influencing the genome of the progeny in an indirect manner. This volume is an essential resource for geneticists, epigeneticists, and molecular biologists who are looking to gain a deeper understanding of this rapidly-expanding field, and can also be of great use to advanced students who are looking to gain additional expertise in genome stability.

  • Nonsense Mutation Correction in Human Diseases

    An Approach for Targeted Medicine
    • 1st Edition
    • Fabrice Lejeune + 2 more
    • English
    Nonsense Mutation Correction in Human Diseases: An Approach for Targeted Medicine provides an introduction on genetic diseases, discusses the prevalence of nonsense mutations, the consequences of a nonsense mutation for the expression of the mutant gene, and the presentation of the nonsense-mediated mRNA decay (NMD). It presents the mechanism of action and rationale associated with each strategy to correct nonsense mutations with the results of clinical trials to further support this basis. In addition, the book shows how it may be possible to combine several of these strategies to ultimately improve the efficiency of correction, also suggesting the future goals and objectives to improve treatment modalities in this evolving sphere of personalized medicine.

  • Collaborative Genomics Projects: A Comprehensive Guide

    • 1st Edition
    • Margi Sheth + 2 more
    • English
    Collaborative Genomics Projects: A Comprehensive Guide contains operational procedures, policy considerations, and the many lessons learned by The Cancer Genome Atlas Project. This book guides the reader through methods in patient sample acquisition, the establishment of data generation and analysis pipelines, data storage and dissemination, quality control, auditing, and reporting. This book is essential for those looking to set up or collaborate within a large-scale genomics research project. All authors are contributors to The Cancer Genome Atlas (TCGA) Program, a NIH- funded effort to generate a comprehensive catalog of genomic alterations in more than 35 cancer types. As the cost of genomic sequencing is decreasing, more and more researchers are leveraging genomic data to inform the biology of disease. The amount of genomic data generated is growing exponentially, and protocols need to be established for the long-term storage, dissemination, and regulation of this data for research. The book's authors create a complete handbook on the management of research projects involving genomic data as learned through the evolution of the TCGA program, a project that was primarily carried out in the US, but whose impact and lessons learned can be applied to international audiences.

  • Translating Regenerative Medicine to the Clinic

    • 1st Edition
    • Jeffrey Laurence + 2 more
    • English
    Translating Regenerative Medicine to the Clinic reviews the current methodological tools and experimental approaches used by leading translational researchers, discussing the uses of regenerative medicine for different disease treatment areas, including cardiovascular disease, muscle regeneration, and regeneration of the bone and skin. Pedagogically, the book concentrates on the latest knowledge, laboratory techniques, and experimental approaches used by translational research leaders in this field. It promotes cross-disciplinary communication between the sub-specialties of medicine, but remains unified in theme by emphasizing recent innovations, critical barriers to progress, the new tools that are being used to overcome them, and specific areas of research that require additional study to advance the field as a whole. Volumes in the series include Translating Gene Therapy to the Clinic, Translating Regenerative Medicine to the Clinic, Translating MicroRNAs to the Clinic, Translating Biomarkers to the Clinic, and Translating Epigenetics to the Clinic.

  • Stem Cell and Gene Therapy for Cardiovascular Disease

    • 1st Edition
    • Emerson c. Perin + 3 more
    • English
    Stem Cell and Gene Therapy for Cardiovascular Disease is a state-of-the-art reference that combines, in one place, the breadth and depth of information available on the topic. As stem cell and gene therapies are the most cutting-edge therapies currently available for patients with heart failure, each section of the book provides information on medical trials from contributors and specialists from around the world, including not only what has been completed, but also what is planned for future research and trials. Cardiology researchers, basic science clinicians, fellows, residents, students, and industry professionals will find this book an invaluable resource for further study on the topic.

  • Economic Evaluation in Genomic Medicine

    • 1st Edition
    • Vasilios Fragoulakis + 3 more
    • English
    Economic Evaluation in Genomic Medicine introduces health economics and economic evaluation to genomic clinicians and researchers, while also introducing the topic to health economists. Each chapter includes an executive summary, questions, and case studies, along with supplementary online materials, including process guides, maps, flow charts, diagrams, and economic evaluation spreadsheets to enhance the learning process. The text can easily be used as course material for related graduate and undergraduate courses, providing a succinct overview of the existing, state-of-the-art application of economic evaluation to genomic healthcare and precision medicine.

  • Clinical Genomics

    • 1st Edition
    • Shashikant Kulkarni + 1 more
    • English
    Clinical Genomics provides an overview of the various next-generation sequencing (NGS) technologies that are currently used in clinical diagnostic laboratories. It presents key bioinformatic challenges and the solutions that must be addressed by clinical genomicists and genomic pathologists, such as specific pipelines for identification of the full range of variants that are clinically important. This book is also focused on the challenges of diagnostic interpretation of NGS results in a clinical setting. Its final sections are devoted to the emerging regulatory issues that will govern clinical use of NGS, and reimbursement paradigms that will affect the way in which laboratory professionals get paid for the testing.