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Elsevier

Books in Genome research

  • miRNA in Human Disease

    From Biomarkers to Therapeutics
    • 1st Edition
    • Parul Gupta + 6 more
    • English
    miRNA in Human Disease: From Biomarkers to Therapeutics explores the critical role of microRNAs (miRNAs) in the development and progression of various diseases, emphasizing their significance as biomarkers and therapeutic targets. Sections provide a comprehensive overview of the biogenesis, function, and regulation of miRNAs, offering insights into how these small noncoding RNA molecules influence gene expression and contribute to disease development and progression. The book covers traditional and advanced methods for miRNA extraction, the role of miRNAs in infectious diseases, cancer, neurological disorders, cardiovascular disease, hemoglobinopathies, pregnancy complications, and metabolic disorders.Sections also discuss the latest research on miRNA-based therapies, including the design and delivery of miRNA mimics and inhibitors and their potential applications in personalized medicine. With a strong focus on practical implementation, the book includes detailed case studies and real-world examples that demonstrate the clinical relevance of miRNA research. It addresses the challenges and future directions in the field, providing a roadmap for researchers, clinicians, and industry professionals to harness the potential of miRNAs for disease diagnosis, treatment, and prevention.

  • Harnessing Genomic Tools for Crop Improvement

    A Software User Manual for Transforming Geneticists to Genomicists
    • 1st Edition
    • Lakshmi Narayana R. Vemireddy + 2 more
    • English
    In the rapidly evolving landscape of crop genetics, the book, Harnessing Genomic Tools for Crop Improvement is an essential resource designed for researchers, students, and professionals seeking to leverage bioinformatics tools for precision breeding. This comprehensive manual provides step-by-step guidance on utilizing molecular data derived from genetics and breeding experiments, offering hands-on instructions for key software applications in genetic diversity analysis, QTL mapping, genome-wide association mapping, haplotype analysis and genomic selection.Beyond technical tutorials, the book explores cutting-edge bioinformatics tools such as sequence databases, BLAST, primer designing, and sequence alignment, ensuring users gain a holistic understanding of genomics-driven crop improvement. Definitions, terminology clarifications, and interpretation of the results help bridge the gap between theory and application, simplifying complex analyses.Whether you are a novice or an experienced researcher, this book equips you with the skills to analyze and apply genomic data effectively, making it an invaluable asset for transforming geneticists into genomicists in both plant and animal sciences.

  • Metagenomics for Microbiology

    • 2nd Edition
    • Jacques Izard + 1 more
    • English
    Metagenomics for Microbiology, Second Edition unveils the intricate and diverse world of microbial communities, emphasizing their critical roles in health, disease, and ecosystem functionality. This updated edition addresses the significant challenges in the field and introduces promising approaches to make metagenomics research more feasible. Through comprehensive revisions and over five new chapters, readers are equipped with the latest research data and analyses, advancing their understanding of microbial principles. Notably, this edition provides a robust foundation for the design and analysis of omics studies, focusing on technological underpinnings and practical applications. It remains an essential resource for characterizing microbial consortia.

  • Raising Genomics Literacy, Knowledge, and Awareness

    • 1st Edition
    • Azhar T. Rahma + 1 more
    • English
    Raising Genomics Literacy, Knowledge, and Awareness is a unique resource which describes the importance of genomic literacy for the effective and streamlined implementation of genomic medicine and pharmacogenomics globally. It provides evidence and expert opinion to decipher the role of genomic and pharmacogenomic literacy to illustrate the evidence, value, and need of raising genomics awareness and education among healthcare professionals, students, and the general public. This text can be used by researchers and graduate students pursuing research in this area.

  • Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics

    Ophthalmologic, Hearing, Craniofacial, Dermatologic, Connective Tissue, and Skeletal Disorders
    • 7th Edition
    • Reed E. Pyeritz + 2 more
    • English
    **Selected for 2026 Doody's Core Titles as an Essential Purchase in Clinical Genetics**For decades, Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics has served as the ultimate resource for clinicians integrating genetics and genomics into medical practice. With detailed coverage in contributions from more than 250 of the world’s most trusted authorities in medical genetics and a series of 11 volumes available for individual sale, the seventh edition of this classic reference includes the latest information on seminal topics such as prenatal diagnosis, genome sequencing, public health genetics, and genetic counseling. Volumes 3–11 cover diagnosis, management, and treatment of both rare and common disorders in all organ systems. Students, medical providers, and researchers all benefit from the latest information about the role of the genome in health and disease. This comprehensive yet practical resource emphasizes theory and research fundamentals across the full spectrum of applications to medicine.In this volume, leading physicians and researchers thoroughly examine medical genetics and genomics as applied to endocrine, skin, connective tissue and skeletal disorders, with emphasis on understanding the genetic mechanisms underlying these conditions, diagnostic approaches, and treatment methods that make use of current genomic technologies and translational studies.With regular advances in genomic technologies propelling precision medicine into the clinic, Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics, seventh edition, bridges the gap between high-level molecular genetics and genomics and practical application and serves as an invaluable clinical tool for the health professionals and researchers.

  • Genomics, Populations, and Society

    • 1st Edition
    • Dhavendra Kumar + 1 more
    • English
    Genomics, Populations, and Society, a new volume in the Genomic and Precision Medicine in Clinical Practice series, considers the vast and thorny web of ELSI topics in genomics, from bioethics to healthcare applications, healthcare economics, genomic data management, and population dynamics. Emphasis is placed on the impact of rapid genomic advances on ethical, sociocultural and lifestyle dimensions. Healthcare and health economics topics include genomics and digital health, genome editing, and genomics and infectious disease management. Legal issues related to data ownership, equity, access, probity, consent, and confidentiality are also discussed in-depth, along with sociocultural topics such as community engagement, consanguinity, and more.Here, a range of readers from researchers to clinicians, policy administrators, lawyers, economists and social scientists will discover carefully crafted, synthesized discussions on ELSI topics in genomics to power new scientific advances and genomic medicine implementation.

  • 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.

  • Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics

    Developmental Disorders
    • 7th Edition
    • Reed E. Pyeritz + 2 more
    • English
    **Selected for 2026 Doody's Core Titles as an Essential Purchase in Clinical Genetics**For decades, Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics has served as the ultimate resource for clinicians integrating genetics and genomics into medical practice. With detailed coverage in contributions from more than 250 of the world’s most trusted authorities in medical genetics and a series of 11 volumes available for individual sale, the Seventh Edition of this classic reference includes the latest information on seminal topics such as prenatal diagnosis, genome sequencing, public health genetics, genetic counseling, and management and treatment strategies to complete its coverage of this growing field for students, health providers, and researchers involved in the care of patients with genetic conditions, and increasingly, all areas of health and disease. This comprehensive yet practical resource emphasizes theory and research fundamentals related to the applications of medical genetics and genomics across the full spectrum of inherited disorders and applications to medicine more broadly.In this volume, leading physicians and researchers thoroughly examine medical genetics and genomics as applied to developmental disorders, as well as genetic conditions that affect hearing and vision. Here genetic researchers, students, and health professionals will find new and fully revised chapters on human developmental genetics, disorders affecting craniofacial development, chromosomal abnormalities, including aneuploidies and structural abnormalities, hereditary hearing impairment, and various genetic conditions of the eye.With regular advances in genomic technologies propelling precision medicine into the clinic, Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics, Seventh Edition bridges the gap between high-level molecular genetics and practical application and serves as an invaluable clinical tool for health professionals and researchers.

  • Targeted Genome Engineering via CRISPR/Cas9 in Plants

    • 1st Edition
    • Alvina Gul
    • English
    Targeted Genome Engineering via CRISPR/Cas9 in Plants provides in-depth insights into the use of the emerging “CRISPR/Cas9” technology for precise genome editing. This technology has revolutionized plant science research particularly for crop improvement owing to its simplicity and efficiency. The book provides a wide range of CRISPR/Cas9 gene editing techniques for a variety of plants. Chapters include the latest applications of CRISPR/Cas9 system in connection with abiotic stresses, biotic stresses, biofortification, yield improvement, disease modelling and prognosis and molecular diagnosis. Targeted Genome Engineering via CRISPR/Cas9 in Plants also evaluates various regulatory and ethical aspects that must be considered when implementing the CRISPR/Cas9 approach. This book is a valuable resource for professionals and researchers, as it provides effective CRISPR/Cas9-based strategies for sustainable agriculture and treatment of various diseases.

  • Genomics in the Clinic

    A Practical Guide to Genetic Testing, Evaluation, and Counseling
    • 1st Edition
    • Antonie D. Kline + 1 more
    • English
    **Selected for 2025 Doody’s Core Titles® in Clinical Genetics**Genomics in the Clinic: A Practical Guide to Genetic Testing, Evaluation, and Counseling illustrates the current scope of the practice of genetics for healthcare professionals, so they can understand principles applicable to genetic testing and consultation. Written by an authoritative well-balanced team, including experienced clinical geneticists, genetic counselors, and medical subspecialists, this book adopts an accessible, easy-to-follow format. Sections are dedicated to basic genetic principles; clinical genetic and genomic testing; prenatal, clinical and cancer genetic diagnosis and counseling; and ethical and social implications in genomic medicine. Over 100 illustrative cases examine a range of prenatal, pediatric and adult genetic conditions and testing, putting these concepts and approaches into practice. Genomics in the Clinic: A Practical Guide to Genetic Testing, Evaluation, and Counseling is important for primary care providers, as patient care evolves in the current genomic-influenced world of precision medicine.

  • Cases in Laboratory Genetics and Genomics (LGG) Practice

    • 1st Edition
    • Xia Li
    • English
    Cases in Laboratory Genetics and Genomics (LGG) Practice instructs readers in the lab-based diagnosis of genetic conditions, including inborn and acquired disorders using cytogenetics and molecular genetics technologies. This entirely case-based book covers a wide range of genetic cases, from prenatal to postnatal and oncology genetic disorders which lab professionals and geneticists encounter daily in the diagnostic field. Each disorder discussed includes a section on clinical background, clinical indication, tests ordered, laboratory tests performed, test results, results with interpretations, future testing and recommendations, and references. The book will help lab professionals understand and navigate clinical cases using an integrative approach, and thoroughly understand the methodologies and interpretations involved in high complexity genetic testing.

  • Economic Evaluation in Genomic and Precision Medicine

    • 1st Edition
    • English
    Economic Evaluation in Genomic and Precision Medicine provides an in-depth examination of essential concepts, protocols and applications of economic evaluation in genomic and precision medicine. Contributions from leading international medical geneticists and health economists compile new ways to effectively assess the costs and outcomes of different genomic care pathways, implement cost-effective medical interventions, and enhance the value of genomic and precision healthcare. Foundational chapters and discipline-specific case studies cover topics ranging from the economic analysis of genomic trial design, to health technology assessment of next-generation sequencing, ethical aspects, economic policy in genomic medicine, and pricing and reimbursement in clinical genomics.

  • Human Reproductive and Prenatal Genetics

    • 2nd Edition
    • Peter C.K. Leung + 1 more
    • English
    **Selected for Doody’s Core Titles® 2024 in Clinical Genetics**Human Reproductive and Prenatal Genetics, Second Edition provides application-driven coverage of key topics in human reproductive and prenatal genetics, including genetic control underlying the development of the reproductive tracts and gametogenesis, the genetics of fertilization and implantation, the genetic basis of female and male infertility, as well as genetic and epigenetic aspects of assisted reproduction. Also examined are the genetics and epigenetics of the placenta in normal and abnormal pregnancy, preimplantation genetic diagnosis and screening, and cutting-edge advances in noninvasive prenatal screening, prenatal genetic counseling, and bioethical and medicolegal aspects of relevance in the lab and clinic.This new edition has been fully revised to address new and evolving technologies in human reproductive genetics, with new chapters added on chromatin landscapes and sex determination, genetic alterations of placental development and preeclampsia, metabolism and inflammation in PCOS, pre-implantational genetic testing, maternal genetic disorders, bioethics, and future applications.

  • 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.

  • Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics

    Hematologic, Renal, and Immunologic Disorders
    • 7th Edition
    • Reed E. Pyeritz + 2 more
    • English
    Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Hematologic, Renal, and Immunologic Disorders, Seventh Edition thoroughly examines medical genetics and genomics as applied to hematologic, immunologic and endocrinologic disorders, with an emphasis on understanding the genetic mechanisms underlying these conditions, diagnostic approaches, and treatment methods. Here, genetic researchers, students and health professionals will find new and fully revised chapters on the genetics of red blood cell diseases, rhesus and other fetomaternal incompatibilities, immunodeficiency disorders, inherited complement deficiencies, celiac disease, and diabetes mellitus, as well as thyroid, parathyroid and gonad disorders, among other conditions. With regular advances in genomic technologies propelling precision medicine into the clinic, this book, which has served as the ultimate resource for clinicians integrating genetics into medical practice, continues to provide the most important information. With nearly 5,000 pages of detailed coverage, contributions from over 250 of the world’s most trusted authorities in medical genetics, and a series of 11 volumes available for individual sale, this updated edition includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies.

  • The Chromosome 22q11.2 Deletion Syndrome

    A Multidisciplinary Approach to Diagnosis and Treatment
    • 1st Edition
    • Donna M. McDonald-McGinn
    • English
    The Chromosome 22q11.2 Deletion Syndrome: A Multidisciplinary Approach to Diagnosis and Treatment serves as the first comprehensive, user-friendly resource on the etiology, prognosis, and recurrence risk associated with the chromosome 22q11.2 deletion syndrome. Leading international contributors cover the background, genetics, testing methods, and pathophysiology of 22q11.2DS, placing emphasis on a strong foundation for multidisciplinary treatment strategies. Written by specialists in every applicable subspecialty, such as, cardiology, immunology, endocrinology, gastroenterology, hematology, ophthalmology, neurology, and psychiatry, among other fields. This book presents an authoritative resource with full color images that enhance concept illustration and aid in real-time decision-making. As 22q11.2 deletion syndrome has become a model for understanding rare and frequent anomalies, numerous medical issues, cognitive and behavioral phenotypes, and later onset conditions, this text will become the go to resource for clinicians, researchers, trainees, and motivated family members, in gaining a full understanding of this complex chromosomal disorder.

  • Clinical Ophthalmic Genetics and Genomics

    • 1st Edition
    • Graeme C.M. Black + 2 more
    • English
    Clinical Ophthalmic Genetics and Genomics provides an accessible, clinically-focused reference for the evolving field of Genetic Ophthalmology. This well-organised, easy-to-read textbook integrates key concepts with clinical practice and is designed to enhance effective learning and retention of complex material. It includes contributions from recognised leaders in the field and provides expert guidance on the complete spectrum of genetic ophthalmic disorders.

  • 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.

  • Genomics of Rare Diseases

    Understanding Disease Genetics Using Genomic Approaches
    • 1st Edition
    • Claudia Gonzaga-Jauregui + 1 more
    • English
    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.

  • Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics

    Metabolic Disorders
    • 7th Edition
    • Reed E. Pyeritz + 2 more
    • English
    For decades, Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics has served as the ultimate resource for clinicians integrating genetics into medical practice. With nearly 5,000 pages of detailed coverage, contributions from over 250 of the world’s most trusted authorities in medical genetics, and a series of 11 volumes available for individual sale, the Seventh Edition of this classic reference includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies to complete its coverage of this growing field for medical students, residents, physicians, and researchers involved in the care of patients with genetic conditions. This comprehensive yet practical resource emphasizes theory and research fundamentals related to applications of medical genetics across the full spectrum of inherited disorders and applications to medicine more broadly. In Metabolic Disorders, leading physicians and researchers thoroughly examine medical genetics as applied to a range of metabolic disorders, with emphasis on understanding the genetic mechanisms underlying these disorders, diagnostic approaches, and therapeutics that make use of current genomic technologies and translational studies. Here genetic researchers, students, and health professionals will find new and fully revised chapters on the genetic basis of body mass, amino acid, carbohydrate, iron, copper, lipo protein, and lipid metabolic disorders, as well as organic acidemias, fatty acid oxidation, and peroxisome disorders among others. With regular advances in genomic technologies propelling precision medicine into the clinic, Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Seventh Edition bridges the gap between high-level molecular genetics and practical application and serves as an invaluable clinical tool for health professionals and researchers.

  • Stem Cell Epigenetics

    • 1st Edition
    • Volume 17
    • English
    Growing evidence suggests that epigenetic mechanisms play a central role in stem cell biology and are vital for determining gene expression during cellular differentiation and governing mammalian development. In Stem Cell Epigenetics, leading international researchers examine how chromatin regulation and bona fide epigenetic mechanisms underlie stem cell renewal and differentiation. Authors also explore how the diversity of cell types, including the extent revealed by single cell omic approaches, is achieved, and how such processes may be reversed or managed via epigenetic reprogramming.Topics discussed include chromatin in pluripotency, stem cells and DNA methylation, histone modifications in stem cells and differentiation, higher-order chromatin conformation in pluripotent cells, stem cells and cancer, epigenetics and disease modeling, brain organoids from pluripotent cells, transcriptional regulation in stem cells and differentiation, non-coding RNAs in pluripotency and early differentiation, and diseases caused by epigenetic alterations in stem cells. Additionally, the book discusses the potential implementation of stem cell epigenetics in drug discovery, regenerative medicine, and disease treatment. Stem Cell Epigenetics will provide researchers and physicians with a state-of-the-art map to orient across the frontiers of this fast-evolving field.

  • Managing Health in the Genomic Era

    A Guide to Family Health History and Disease Risk
    • 1st Edition
    • Vincent Henrich + 2 more
    • English
    In Managing Health in the Genomic Era: A Guide to Family Health History and Disease Risk, Drs. Vincent C. Henrich, Lori A. Orlando, and Brian H. Shirts discuss the practical considerations surrounding the use of genomic and genetic tests to manage patient health, to provide adult disease risk assessment, to improve diagnosis, and to support effective interventions and treatment. In 10 chapters, evidence-based information and case studies are described and examine the central place of family health history (FHH) in genomic medicine, tools and strategies for compiling and analyzing family health history, how to identify existing and novel genetic markers, how to identify lineage specific (or rare) variants within families, and how to find effective interventions based on genetic testing results and FHH. Factors that influence clinical practice, including gene-environment interactions, FHH social networking, direct to consumer (DTC) genetic testing and data sharing, algorithms for analyzing genetic data, and patient counseling are discussed from the standpoint of clinical practice. Here, frontline healthcare providers will discover succinct commentary and key examples to assist with their local needs. Relevant principles of genetic biology and inheritance are explored and guidance on available support networks and online resources is also provided.

  • Animal Biotechnology

    Models in Discovery and Translation
    • 2nd Edition
    • Ashish S. Verma + 1 more
    • English
    Animal Biotechnology: Models in Discovery and Translation, Second Edition, provides a helpful guide to anyone seeking a thorough review of animal biotechnology and its application to human disease and welfare. This updated edition covers vital fundamentals, including animal cell cultures, genome sequencing analysis, epigenetics and animal models, gene expression, and ethics and safety concerns, along with in-depth examples of implications for human health and prospects for the future. New chapters cover animal biotechnology as applied to various disease types and research areas, including in vitro fertilization, human embryonic stem cell research, biosensors, enteric diseases, biopharming, organ transplantation, tuberculosis, neurodegenerative disorders, and more.

  • Secondary Findings in Genomic Research

    • 1st Edition
    • English
    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.

  • Clinical Precision Medicine

    A Primer
    • 1st Edition
    • Judy S. Crabtree
    • English
    Clinical Precision Medicine: A Primer offers clinicians, researchers and students a practical, up-to-date resource on precision medicine, its evolving technologies, and pathways towards clinical implementation. Early chapters address the fundamentals of molecular biology and gene regulation as they relate to precision medicine, as well as the foundations of heredity and epigenetics. Oncology, an early adopter of precision approaches, is considered with its relationship to genetic variation in drug metabolism, along with tumor immunology and the impact of DNA variation in clinical care. Contributions by Stephanie Kramer, a Clinical Genetic Counselor, also provide current information on prenatal diagnostics and adult genetics that highlight the critical role of genetic counselors in the era of precision medicine.

  • Prognostic Epigenetics

    • 1st Edition
    • Volume 15
    • English
    This volume provides comprehensive information on how mapping an individual’s epigenome can be medically relevant and holds the potential to improve preventive medicine and precision therapeutics at an early-stage (prior to disease onset). In order to advance clinical adoption of the recently developed epigenetic approaches, it is necessary for translational scientists, clinicians, and students to gain a better understanding about epigenetic mechanisms that are associated with a particular disorder; and to be able to effectively identify biomarkers that can be applied in drug development and for better diagnosis and prognosis of diseases. Prognostic Epigenetics is the most-inclusive volume to-date specifically dedicated to epigenetic markers that have been developed for prognosis of diseases, recent advances in this field, the clinical implementation of this research, and the future outlook.

  • Translational Systems Medicine and Oral Disease

    • 1st Edition
    • Stephen T. Sonis + 1 more
    • English
    Translational Systems Medicine and Oral Disease bridges the gap between discovery science and clinical oral medicine, providing opportunities for both the scientific and clinical communities to understand how to apply recent findings in cell biology, genomic profiling, and systems medicine to favorably impact the diagnosis, treatment and management of oral diseases. Fully illustrated chapters from leading international contributors explore clinical applications of genomics, proteomics, metabolomics, microbiomics and epigenetics, as well as analytic methods and functional omics in oral medicine. Disease specific chapters detail systems approaches to periodontal disease, salivary gland diseases, oral cancer, bone disease, and autoimmune disease, among others. In addition, the book emphasizes biological synergisms across disciplines and their translational impact for clinicians, researchers and students in the fields of dentistry, dermatology, gastroenterology, otolaryngology, oncology and primary care.

  • Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics

    Cardiovascular, Respiratory, and Gastrointestinal Disorders
    • 7th Edition
    • Reed E. Pyeritz + 2 more
    • English
    Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Cardiovascular, Respiratory, and Gastrointestinal Disorders, Seventh Edition includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies. This comprehensive, yet practical, resource emphasizes theory and research fundamentals relating to applications of medical genetics across the full spectrum of inherited disorders and applications to medicine. Updated sections in this release cover the genetics of cardiovascular, respiratory and gastrointestinal disorders, with an emphasis on genetic determinants and new pathways for diagnosis, prevention and disease management. In addition, genetic researchers, students and health professionals will find new and fully revised chapters on the molecular genetics of congenital heart defects, inherited cardiomyopathies, hypertension, cystic fibrosis, asthma, hereditary pulmonary emphysema, inflammatory bowel disease, and bile pigment metabolism disorders among other conditions.

  • Sports, Exercise, and Nutritional Genomics

    Current Status and Future Directions
    • 1st Edition
    • Debmalya Barh + 1 more
    • English
    Sports, Exercise, and Nutritional Genomics: Current Status and Future Directions is the first reference volume to offer a holistic examination of omics-driven advances across different aspects of exercise and sports physiology, biochemistry, sports medicine, psychology, anthropology, and sports nutrition; and highlighting the opportunities towards advance personalized training and athlete health management. More than 70 international experts from 14 countries have discussed key exercise and sport-related themes through the prism of genomics, epigenomics, transcriptomics, proteomics, metabolomics, telomere biology, talent in sport, individual differences in response to regular physical activity, that in the future may empower coaches, sports physicians, fitness experts, genetic counselors, and translational scientists to employ various omics data and approaches in improving health and physical performance of people participating in sports and exercise activities. Contributors address current knowledge of genetic influence on athletic performance, individual responses to exercise training, as well as the genetics of musculoskeletal phenotypes, exercise-related injuries, flexibility, and neurodegenerative disorders in athletes. Finally, performance-related and psychological traits associated with epigenetic, transcriptomic and metagenomic biomarkers are also considered, along with nutritional and pharmacogenomic aids in sports medicine and personalized nutrition.

  • Pharmacoepigenetics

    • 1st Edition
    • Volume 10
    • Ramón Cacabelos
    • English
    Pharmacoepigenetics provides a comprehensive volume on the role of epigenetics and epigenomics in drug discovery and development, providing a detailed, but accessible, view of the field, from basic principles, to applications in disease therapeutics. Leading international researchers from across academia, clinical settings and the pharmaceutical industry discuss the influence of epigenetics and epigenomics in human pathology, epigenetic biomarkers for disease prediction, diagnosis, and treatment, current epigenetic drugs, and the application of epigenetic procedures in drug development. Throughout the book, chapter authors offer a balanced and objective discussion of the future of pharmacoepigenetics and its crucial contribution to the growth of precision and personalized medicine.

  • Genome Chaos

    Rethinking Genetics, Evolution, and Molecular Medicine
    • 1st Edition
    • Henry H. Heng
    • English
    Genome Chaos: Rethinking Genetics, Evolution, and Molecular Medicine transports readers from Mendelian Genetics to 4D-genomics, building a case for genes and genomes as distinct biological entities, and positing that the genome, rather than individual genes, defines system inheritance and represents a clear unit of selection for macro-evolution. In authoring this thought-provoking text, Dr. Heng invigorates fresh discussions in genome theory and helps readers reevaluate their current understanding of human genetics, evolution, and new pathways for advancing molecular and precision medicine.

  • Epigenetics and Regeneration

    • 1st Edition
    • Volume 11
    • English
    Epigenetics and Regeneration compiles the first foundational reference on epigenetic mechanisms governing tissue development, repair, homeostasis, and regeneration, as well as pathways to employ these mechanisms in clinical practice and translational science. In this book, life science researchers, clinicians, and students will discover an interdisciplinary resource bringing together common themes in the field, background overviews, research methods, recent advances, and opportunities for drug discovery. Throughout this volume, special attention is paid to pre-clinical and first clinical studies aimed at increasing the regenerative potential of damaged tissues by epigenetic drugs, as well as innovative, discipline spanning strategies to enhance cell reprogramming. As an all-inclusive, evidence-based volume, Epigenetics and Regeneration will stimulate discussion and boost new research in this fascinating and impactful area of translational epigenetics.

  • Chromatin Signaling and Neurological Disorders

    • 1st Edition
    • Volume 12
    • English
    Chromatin Signaling and Neurological Disorders, Volume Seven, explores our current understanding of how chromatin signaling regulates access to genetic information, and how their aberrant regulation can contribute to neurological disorders. Researchers, students and clinicians will not only gain a strong grounding on the relationship between chromatin signaling and neurological disorders, but they'll also discover approaches to better interpret and employ new diagnostic studies and epigenetic-based therapies. A diverse range of chapters from international experts speaks to the basis of chromatin and epigenetic signaling pathways and specific chromatin signaling factors that regulate a range of diseases. In addition to the basic science of chromatin signaling factors, each disease-specific chapter speaks to the translational or clinical significance of recent findings, along with important implications for the development of epigenetics-based therapeutics. Common themes of translational significance are also identified across disease types, as well as the future potential of chromatin signaling research.

  • Transgenerational Epigenetics

    • 2nd Edition
    • Volume 13
    • English
    Transgenerational Epigenetics, Second Edition, offers the only up-to-date, comprehensive analysis of the inheritance of epigenetic phenomena between generations with an emphasis on human disease relevance, drug discovery, and next steps in clinical translation. International experts discuss mechanisms of epigenetic inheritance, its expression in animal and plant models, and how human ailments, such as metabolic disorders and cardiovascular disease are influenced by transgenerational epigenetic inheritance. Where evidence is sufficient, epigenetic clinical interventions are proposed that may help prevent or reduce the severity of disease before offspring are born. This edition has been thoroughly revised in each disease area, featuring newly researched actors in epigenetic regulation, including long noncoding RNA in addition to histone modifications and DNA methylation. Therapeutic pathways in treating cancer and extending human longevity are also considered, as are current debates and future directions for research.

  • Clinical Genome Sequencing

    Psychological Considerations
    • 1st Edition
    • Aad Tibben + 1 more
    • English
    Clinical Genome Sequencing: Psychological Aspects thoroughly details key psychological factors to consider while implementing genome sequencing in clinical practice, taking into account the subtleties of genetic risk assessment, patient consent and best practices for sharing genomic findings. Chapter contributions from leading international researchers and practitioners cover topics ranging from the current state of genomic testing, to patient consent, patient responses to sequencing data, common uncertainties, direct-to-consumer genomics, the role of genome sequencing in precision medicine, genetic counseling and genome sequencing, genome sequencing in pediatrics, genome sequencing in prenatal testing, and ethical issues in genome sequencing. Applied clinical case studies support concept illustration, making this an invaluable, practical reference for this important and multifaceted topic area within genomic medicine.

  • Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics

    Foundations
    • 7th Edition
    • Reed E. Pyeritz + 2 more
    • English
    For decades, Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics has served as the ultimate resource for clinicians integrating genetics into medical practice. With detailed coverage in contributions from over 250 of the world’s most trusted authorities in medical genetics and a series of 11 volumes available for individual sale, the Seventh Edition of this classic reference includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies to complete its coverage of this growing field for medical students, residents, physicians, and researchers involved in the care of patients with genetic conditions. This comprehensive yet practical resource emphasizes theory and research fundamentals related to applications of medical genetics across the full spectrum of inherited disorders and applications to medicine more broadly. This volume, Foundations, summarizes basic theories, concepts, research areas, and the history of medical genetics, providing a contextual framework for integrating genetics into medical practice. In this new edition, clinically oriented information is supported by full-color images and expanded sections on the foundations of genetic analytics, next generation sequencing, and therapeutics. With regular advances in genomic technologies propelling precision medicine into the clinic, Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Seventh Edition bridges the gap between high-level molecular genetics and practical application and serves as an invaluable clinical tool for the health professionals and researchers.

  • Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics

    Clinical Principles and Applications
    • 7th Edition
    • Reed E. Pyeritz + 2 more
    • English
    For decades, Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics has served as the ultimate resource for clinicians integrating genetics into medical practice. With detailed coverage in contributions from over 250 of the world’s most trusted authorities in medical genetics and a series of 11 volumes available for individual sale, the Seventh Edition of this classic reference includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies to complete its coverage of this growing field for medical students, residents, physicians, and researchers involved in the care of patients with genetic conditions. This comprehensive yet practical resource emphasizes theory and research fundamentals related to applications of medical genetics across the full spectrum of inherited disorders and applications to medicine more broadly.Clinical Principles and Applications thoroughly addresses general methods and approaches to genetic counseling, genetic diagnostics, treatment pathways, and drug discovery. Additionally, new and updated chapters explore the clinical implementation of genomic technologies, analytics, and therapeutics, with special attention paid to developing technologies, common challenges, patient care, and ethical and legal aspects.With regular advances in genomic technologies propelling precision medicine into the clinic, the seventh edition of Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics bridges the gap between high-level molecular genetics and practical application and serves as an invaluable clinical tool for the health professionals and researchers.

  • Epigenetics of Chronic Pain

    • 1st Edition
    • Volume 7
    • English
    Epigenetics of Chronic Pain, Volume Nine, presents comprehensive information on the role of epigenetics in chronic pain sensitivity, providing a detailed, but accessible, view of the field from basic principles, to clinical application. Leading international researchers discuss essential mechanisms of chronic pain epigenetics, including the molecular processes of chromatin remodeling, histone modifications, and the microRNAs and noncoding RNAs involved in regulating genes tied to pain sensitivity. The influence of epigenetics in inflammatory, neuropathic, visceral and other pain models is examined, with data derived from epigenetic studies on peripheral and central mechanisms of pain sensitivity in animal models and clinical cases studies. The studies and case examples cited highlight therapeutic pathways of significance and next steps for researchers to develop epigenetic-based treatments for chronic pain. In recent years, epigenetic regulation of gene expression has been shown to play a central role in managing human pain sensitivity. Findings show that expression of many genes critical to increases or decreases in pain sensitivity are indeed regulated by DNA methylation and its enzymes, histone-involved chromatin remodeling, and noncoding RNAs, mainly microRNAs.

  • Applied Microbiology and Bioengineering

    An Interdisciplinary Approach
    • 1st Edition
    • Pratyoosh Shukla
    • English
    Applied Microbiology and Bioengineering: An Interdisciplinary Approach discusses recent advances in microbiology and cutting-edge biotechnology that have generated interest among researchers. The book is divided into several sections, including Enzymes in Bioprocessing, Human Health, Microbial Physiology and Biomedical Applications, and Bioprocess Development. Included are some of the latest developments in the field, like smart actuators for innovative biomedical applications, microalgal antenna engineering for improved bioprocess of biofuel, cell line engineering, and synbiotic foods. It is a useful reference for those in the applied microbiology and biotechnology fields, but will also be useful for practitioners in biotech.

  • Computational Non-coding RNA Biology

    • 1st Edition
    • Yun Zheng
    • English
    Computational Non-coding RNA Biology is a resource for the computation of non-coding RNAs. The book covers computational methods for the identification and quantification of non-coding RNAs, including miRNAs, tasiRNAs, phasiRNAs, lariat originated circRNAs and back-spliced circRNAs, the identification of miRNA/siRNA targets, and the identification of mutations and editing sites in miRNAs. The book introduces basic ideas of computational methods, along with their detailed computational steps, a critical component in the development of high throughput sequencing technologies for identifying different classes of non-coding RNAs and predicting the possible functions of these molecules. Finding, quantifying, and visualizing non-coding RNAs from high throughput sequencing datasets at high volume is complex. Therefore, it is usually possible for biologists to complete all of the necessary steps for analysis.

  • Epigenetic Principles of Evolution

    • 2nd Edition
    • Nelson R Cabej
    • English
    Epigenetic Principles of Evolution, Second Edition, fully examines the causal basis of evolution from an epigenetic point-of-view. By revealing the epigenetic uses of the genetic toolkit, this work demonstrates the primacy of epigenetic mechanisms and epigenetic information in generating evolutionary novelties. The author convincingly supports his theoretical perspective with examples from varied fields of biology, emphasizing changes in developmental pathways as the basic source of evolutionary change in metazoans. Users will find a broader view of the epigenetic mechanisms of evolution, moving beyond conventional changes in epigenetic structures, such as DNA methylation, histone modifications, and patterns of miRNA, sRNA, and mRNA expression. This second edition is thoroughly updated to reflect new evidence and developing theories in the field of evolutionary epigenetics. New and revised chapters speak to the epigenetic basis of heredity, epigenetic regulation of animal structure and homeostasis, neural manipulation of gene expression, central control of gametogenesis, epigenetic control of early development, the origin of epigenetic information, evolutionary changes in response to environmental stressors, epigenetics of sympatric evolution, and the epigenetics of the Cambrian explosion, among other topics.

  • Noninvasive Prenatal Testing (NIPT)

    Applied Genomics in Prenatal Screening and Diagnosis
    • 1st Edition
    • Lieve Page-Christiaens + 1 more
    • English
    Since its introduction in 2012, cell-free (cf) DNA based Non-Invasive Prenatal Testing (NIPT) has been employed to test for fetal chromosome abnormalities, and gene mutations that lead to a variety of genetic conditions, by millions of pregnant women, in more than 90 countries worldwide. With Noninvasive Prenatal Testing (NIPT): Applied Genomics in Prenatal Screening and Diagnosis, Dr Lieve Page-Christiaens and Dr Hanns-Georg Klein have compiled the first authoritative volume on cfDNA NIPT methods and their clinical implementation.

  • Clinical Ethics at the Crossroads of Genetic and Reproductive Technologies

    • 1st Edition
    • Sorin Hostiuc
    • English
    Clinical Ethics at the Crossroads of Genetic and Reproductive Technologies offers thorough discussions on preconception carrier screening, genetic engineering and the use of CRISPR gene editing, mitochondrial gene replacement therapy, sex selection, predictive testing, secondary findings, embryo reduction and the moral status of the embryo, genetic enhancement, and the sharing of genetic data. Chapter contributions from leading bioethicists and clinicians encourage a global, holistic perspective on applied challenges and the moral questions relating the implementation of genetic reproductive technology. The book is an ideal resource for practitioners, regulators, lawmakers, clinical researchers, genetic counselors and graduate and medical students. As the Human Genome Project has triggered a technological revolution that has influenced nearly every field of medicine, including reproductive medicine, obstetrics, gynecology, andrology, prenatal genetic testing, and gene therapy, this book presents a timely resource.

  • Genomic Medicine in Emerging Economies

    Genomics for Every Nation
    • 1st Edition
    • George P. Patrinos + 1 more
    • English
    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.

  • Epigenetics in Human Disease

    • 2nd Edition
    • Trygve O. Tollefsbol
    • English
    Epigenetics in Human Disease, Second 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. In addition to detailing the role of epigenetics in the etiology, progression, diagnosis and prognosis of these diseases, novel epigenetic approaches to treatment are also explored. Fully revised and up-to-date, this new edition discusses topics of current interest in epigenetic research, including stem cell epigenetic therapy, bioinformatic analysis of NGS data, and epigenetic mechanisms of imprinting disorders. 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.

  • Epigenetics of Aging and Longevity

    Translational Epigenetics vol 4
    • 1st Edition
    • Volume 4
    • Alexey Moskalev + 1 more
    • English
    Epigenetics of Aging and Longevity provides an in-depth analysis of the epigenetic nature of aging and the role of epigenetic factors in mediating the link between early-life experiences and life-course health and aging. Chapters from leading international contributors explore the effect of adverse conditions in early-life that may result in disrupted epigenetic pathways, as well as the potential to correct these disrupted pathways via targeted therapeutic interventions. Intergenerational epigenetic inheritance, epigenetic drug discovery, and the role of epigenetic mechanisms in regulating specific age-associated illnesses—including cancer and cardiovascular, metabolic, and neurodegenerative diseases—are explored in detail. This book will help researchers in genomic medicine, epigenetics, and biogerontology better understand the epigenetic determinants of aging and longevity, and ultimately aid in developing therapeutics to extend the human life-span and treat age-related disease.

  • Epigenetic Mechanisms in Cancer

    • 1st Edition
    • Volume 3
    • Sabita Saldanha
    • English
    Epigenetic Mechanisms in Cancer provides a comprehensive analysis of epigenetic signatures that govern disease development, progression and metastasis. Epigenetic signatures dictating tumor etiologies present an opportunity for biomarker identification which has broad potential for improving diagnosis, prognosis, prediction, and risk assessment. This volumes offers a unique evaluation of signature differences in childhood, sex-specific and race-specific cancers, and in doing so broadly illuminates the scope of epigenetic biomarkers in clinical environments. Chapters detail the major epigenetic process in humans consisting of DNA methylation, histone modifications and microRNAs (miRNAs) involved in the initiation, progression and metastasis of tumors. Also delineated are recent technologies such as next generation sequencing that are used to identify epigenetic profiles (primarily methylation analysis) in samples (normal, benign and cancerous) and which are highly important to the analysis of epigenetic outcomes.

  • Metagenomics

    Perspectives, Methods, and Applications
    • 1st Edition
    • Muniyandi Nagarajan
    • English
    Metagenomics: Perspectives, Methods, and Applications 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. 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 examine topics ranging from viral metagenome profiling, metagenomics in oral disease and health, metagenomic insights into the human gut microbiome and metabolic syndromes, and more. Additionally, perspectives on future potential at the end of each chapter provoke new thought and motivations for continued study in this exciting and fruitful research area.

  • Nuclear Architecture and Dynamics

    • 1st Edition
    • Volume 2
    • Christophe Lavelle + 1 more
    • English
    Nuclear Architecture and Dynamics provides a definitive resource for (bio)physicists and molecular and cellular biologists whose research involves an understanding of the organization of the genome and the mechanisms of its proper reading, maintenance, and replication by the cell. This book brings together the biochemical and physical characteristics of genome organization, providing a relevant framework in which to interpret the control of gene expression and cell differentiation. It includes work from a group of international experts, including biologists, physicists, mathematicians, and bioinformaticians who have come together for a comprehensive presentation of the current developments in the nuclear dynamics and architecture field. The book provides the uninitiated with an entry point to a highly dynamic, but complex issue, and the expert with an opportunity to have a fresh look at the viewpoints advocated by researchers from different disciplines.