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Elsevier

Books in Applications of molecular genetics

  • 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.

  • Rigor and Reproducibility in Genetics and Genomics

    Peer-reviewed, Published, Cited
    • 1st Edition
    • English
    Rigor and Reproducibility in Genetics and Genomics: Peer-reviewed, Published, Cited provides a full methodological and statistical overview for researchers, clinicians, students, and post-doctoral fellows conducting genetic and genomic research. Here, active geneticists, clinicians, and bioinformaticists offer practical solutions for a variety of challenges associated with several modern approaches in genetics and genomics, including genotyping, gene expression analysis, epigenetic analysis, GWAS, EWAS, genomic sequencing, and gene editing. Emphasis is placed on rigor and reproducibility throughout, with each section containing laboratory case-studies and classroom activities covering step-by-step protocols, best practices, and common pitfalls. Specific genetic and genomic technologies discussed include microarray analysis, DNA-seq, RNA-seq, Chip-Seq, methyl-seq, CRISPR gene editing, and CRISPR-based genetic analysis. Training exercises, supporting data, and in-depth discussions of rigor, reproducibility, and ethics in research together deliver a solid foundation in research standards for the next generation of genetic and genomic scientists.

  • MicroRNA in Regenerative Medicine

    • 2nd Edition
    • Chandan K. Sen
    • English
    Regulating virtually all biological processes, the genome’s 2,654 newly discovered variants of mature microRNAs – short ribonucleic acid molecules found in eukaryotic cells – hold a key role in the body’s toolkit of regenerative and reparative capacities. Identifying how to activate and deliver these specialist molecules may aid in the repair and regeneration of major tissue and organ damage in future therapies. In MicroRNA and Regenerative Medicine, Second Edition, over 50 leading experts address foundational and emerging topics in the field. Concisely summarizing and evaluating key findings from new research and their translational application, contributors examine current and future significance of clinical research in the miRNA area. Coverage encompasses all major aspects of fundamental stem cell and developmental biology, including the uses of miRNA in cell and tissue plasticity, developmental biology, tissue repair, and regeneration. In particular, contributors provide focused coverage of methodologies for regenerative intervention and tissue engineering. Topics new to this edition include proteomic changes during tissue repair and regeneration, horizontal transfer of miRNAs in tissue regeneration, tissue stemness, peripheral nerve regeneration, miRNA as biomarkers, microRNA in pregnancy and embryo development, exogenous and diet derived microRNA in tissue development, ocular microRNA, mitochondrial microRNA, sensory hair cell death and regeneration, and microRNA in senescence.

  • 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.

  • 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.

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

    Perinatal and Reproductive Genetics
    • 7th Edition
    • Reed E. Pyeritz + 2 more
    • English
    **Selected for Doody’s Core Titles® 2024 in Clinical Genetics**Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Perinatal and Reproductive Genetics, 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 in this growing field. The book is ideal 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.Chapters from leading international researchers and clinicians focus on topics ranging from single gene testing to whole genome sequencing, whole exome sequencing, gene therapy, genome editing approaches, FDA regulations on genomic testing and therapeutics, and ethical aspects of employing genomic technologies.

  • Histone Modifications in Therapy

    • 1st Edition
    • Volume 20
    • Pedro Castelo-Branco + 1 more
    • English
    Histone Modifications in Therapy provides an in-depth analysis of the role of histone mechanisms in major diseases and the promise of targeting histone modifications for disease prevention and treatment. Here, researchers, clinicians and students will discover a thorough, evidence-based discussion of the biology of histones, the diseases engaged by aberrant histone modifications, and pathways with therapeutic potential. Expert chapter addresses the role of histone modifications across a variety of disorders, including cancer, neuropsychiatric, neurodegenerative, cardiac, metabolic, infectious, bacterial, autoimmune and inflammatory disorders, among others. In relation to these disease types, histone modifications are discussed, both as mechanisms of prevention and possible treatment. A concluding chapter brings together future perspectives for targeting histone modifications in therapy and next steps in research.

  • Responsible Genomic Data Sharing

    Challenges and Approaches
    • 1st Edition
    • Xiaoqian Jiang + 1 more
    • English
    Responsible Genomic Data Sharing: Challenges and Approaches brings together international experts in genomics research, bioinformatics and digital security who analyze common challenges in genomic data sharing, privacy preserving technologies, and best practices for large-scale genomic data sharing. Practical case studies, including the Global Alliance for Genomics and Health, the Beacon Network, and the Matchmaker Exchange, are discussed in-depth, illuminating pathways forward for new genomic data sharing efforts across research and clinical practice, industry and academia.

  • 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.

  • Human Embryos and Preimplantation Genetic Technologies

    Ethical, Social, and Public Policy Aspects
    • 1st Edition
    • E. Scott Sills + 1 more
    • English
    Human Embryos and Preimplantation Genetic Technologies: Ethical, Social, and Public Policy Aspects presents the first holistic analysis of PGD and PGS as it is practiced and regulated worldwide. In addition to scientific and technical aspects, the book provides perspectives on the ethical, legal, religious, policy and social implications of global assisted reproduction technologies, including in Africa, Asia, Europe, North and South America, and Australia. Chapters cover history, ethics, feminism, family dynamics, psychological and interpersonal factors, the current state of PGD and PGS in 20 different sovereign nations and religious communities, and provide an analysis of public policy concerns and future directions.

  • 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.

  • Human Reproductive and Prenatal Genetics

    • 1st Edition
    • Peter C.K. Leung + 1 more
    • English
    Human Reproductive and Prenatal Genetics presents the latest material from a detailed molecular, cellular and translational perspective. Considering its timeliness and potential international impact, this all-inclusive and authoritative work is ideal for researchers, students, and clinicians worldwide. Currently, there are no comprehensive books covering the field of human reproductive and prenatal genetics. As such, this book aims to be among the largest and most useful references available. Named a Highly Commended book in the Basic and Clinical Sciences by the British Medical Association.

  • 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.

  • Molecular-Genetic and Statistical Techniques for Behavioral and Neural Research

    • 1st Edition
    • Robert T. Gerlai
    • English
    Molecular-Genetic and Statistical Techniques for Behavioral and Neural Research presents the most exciting molecular and recombinant DNA techniques used in the analysis of brain function and behavior, a critical piece of the puzzle for clinicians, scientists, course instructors and advanced undergraduate and graduate students. Chapters examine neuroinformatics, genetic and neurobehavioral databases and data mining, also providing an analysis of natural genetic variation and principles and applications of forward (mutagenesis) and reverse genetics (gene targeting). In addition, the book discusses gene expression and its role in brain function and behavior, along with ethical issues in the use of animals in genetics testing. Written and edited by leading international experts, this book provides a clear presentation of the frontiers of basic research as well as translationally relevant techniques that are used by neurobehavioral geneticists.

  • Albinism in Africa

    Historical, Geographic, Medical, Genetic, and Psychosocial Aspects
    • 1st Edition
    • Jennifer Kromberg + 1 more
    • English
    Albinism in Africa: Historical, Geographic, Medical, Genetic, and Psychosocial Aspects provides the first in-depth reference for understanding and treating patients of human albinism in Africa. Leading international contributors examine the historical, geographic, psychosocial, genetic and molecular considerations of importance in effectively and sensitively managing this genetic disorder. Foundational chapters covering the historical and psychosocial aspects of albinism are supplemented by discussions of the pathobiology of the disease, as well as a thorough analysis of the genetics of skin pigmentation, eye pigmentation, hair pigmentation, and incidents of skin cancer involved in the manifestations of this disorder. New prenatal diagnostics and genetic testing methods, genetic risk assessment for individuals, families, and communities, and novel genetic markers that may be used for developing new therapeutics for treating albinism are also discussed in detail. The book provides care management approaches that may be applied to instances of albinism in other regions, along with guiding principles for treating rare genetic disorders and stigmatized patient populations across the globe.

  • 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.

  • Translating Epigenetics to the Clinic

    • 1st Edition
    • Jeffrey Laurence
    • English
    Translating Epigenetics to the Clinic reviews current methodological tools and experimental approaches used by leading translational researchers seeking to use epigenetics as a clinical model. It organizes epigenetics into disease treatment areas with a major focus on oncology, and with much coverage of pervasive treatment categories such as diabetes, as well as the ‘diseases of modernity’—including pharmacological addiction, dementia, and ageing. Pedagogically, the work concentrates on the latest knowledge, laboratory techniques, and experimental approaches used by translational research leaders in this field. The book promotes cross-disciplinary communication between the sub-specialties of medicine. In common with the rest of the books in Translational Medicine, the book remains unified in theme by emphasizing recent innovations, critical barriers to progress, and the new tools being used to overcome them. Also includes specific areas of research that require additional study to advance the field as a whole.

  • Translational Cardiometabolic Genomic Medicine

    • 1st Edition
    • Annabelle Rodriguez-Oquendo
    • English
    Translational Cardiometabolic Genomic Medicine, edited by Dr. Annabelle Rodriguez-Oquendo, is an important resource to postgraduate (medical, dental and graduate) students, postdoctoral fellows, basic scientists, and physician scientists seeking to understand and expand their knowledge base in the field of genomic medicine as it is applied to cardiometabolic diseases. This handbook integrates cutting-edge experimental approaches such as chromatin immunoprecipitation paired end tagging (CHIA-PET), to population studies such as the Multi-Ethnic Study of Atherosclerosis. It encompasses a range of book chapters that highlight bioinformatic approaches to better understanding functionality of the noncoding regions of the human genome to the use of molecular diagnostic testing in predicting increased risk of cardiovascular diseases. Where applicable, this reference also includes chapters related to therapeutic options specifically aligned to molecular targets.

  • MicroRNA in Regenerative Medicine

    • 1st Edition
    • Chandan K. Sen
    • English
    This work encapsulates the uses of miRNA across stem cells, developmental biology, tissue injury and tissue regeneration. In particular contributors provide focused coverage of methodologies, intervention and tissue engineering. Regulating virtually all biological processes, the genome’s 1048 encoded microRNAs appear to hold considerable promise for the potential repair and regeneration of tissues and organs in future therapies. In this work, 50 experts address key topics of this fast-emerging field. Concisely summarizing and evaluating key findings emerging from fundamental research into translational application, they point to the current and future significance of clinical research in the miRNA area. Coverage encompasses all major aspects of fundamental stem cell and developmental biology, including the uses of miRNA across repair and regeneration, and special coverage of methodologies and interventions as they point towards organ and tissue engineering

  • Emery and Rimoin's Essential Medical Genetics

    • 1st Edition
    • David L. Rimoin + 2 more
    • English
    For decades, Emery and Rimoin’s Principles and Practice of Medical Genetics has provided the ultimate source for practicing clinicians to learn how the study of genetics can be integrated into practice. Developed in parallel to the sixth edition, and featuring 174 original contributions from the many authors of the full set, this one volume work expertly condenses and synthesizes the most clinically relevant content, for convenient desk reference.Helping to bridge the gap between high-level molecular genetics and individual application, it follows the multi-volume set in encompassing scientific fundamentals, full spectrum discussion of major inherited disorders, and actionable therapies. Clinically oriented information is supported by concise descriptions of the principles of genetics, research approaches, and analytics to embrace the evolving population of students, researchers, and practitioners who are integrating their work to provide advanced diagnosis, prevention and treatment of human disease.This print volume is complemented and enhanced with online access to the complete text, online-only references, and high quality illustrations on www.expertconsult.co...

  • Fidelity and Quality Control in Gene Expression

    • 1st Edition
    • Volume 86
    • English
    The goal of this volume is to provide a comprehensive mechanistic and quantitative view of the processes that mediate or influence the quality control in translation. In addition to discussing processes with direct contribution to translation fidelity, such as aminoacylation of tRNAs and translation elongation itself, special attention is given to other processes with impact on quality control: detection and elimination of defective mRNAs, recycling and translation re-initiation, mRNA editing, and translational recoding through programmed frame-shifting.

  • Global Clinical Trials

    Effective Implementation and Management
    • 1st Edition
    • Richard Chin + 1 more
    • English
    This book will explore the great opportunities and challenges which exist in conducting clinical trials in developing countries. By exploring the various regulations specific to the major players and providing insight into the logistical challenges including language barriers, this book provides a working tool for clinical researchers and administrators to navigate the intricacies of clinical trials in developing countries. Important topics such as ethical issues will be handled very carefully to highlight the significant differences of conducting this work in various jurisdictions. Overall, it will present a clear and comprehensive guide to the ins-and-outs of clinical trials in various countries to assist in design, development, and effectiveness of these trials.

  • Challenges in Delivery of Therapeutic Genomics and Proteomics

    • 1st Edition
    • Ambikanandan Misra
    • English
    Delivery of therapeutic proteomics and genomics represent an important area of drug delivery research. Genomics and proteomics approaches could be used to direct drug development processes by unearthing pathways involved in disease pathogenesis where intervention may be most successful. This book describes the basics of genomics and proteomics and highlights the various chemical, physical and biological approaches to protein and gene delivery.

  • Advances in DNA Sequence-Specific Agents

    • 1st Edition
    • Volume 4
    • B.J. Chapman
    • English
    This series encompasses design, synthesis, application, and analytical methods (including clinical and in vitro) for the study of these critical interactions. As our understanding of the genome and proteome expands, general developments in the field of DNA sequence specific interaction are likely to play an increasingly important role. Accordingly, manuscripts have been solicited from experts covering a diverse range of fields, reflecting the cross-disciplinary and dynamic nature of the series.Volume 4 describes work on the modification of DNA by AT specific anticancer drugs, DNA alkylation events which involve metabolite generation, DNA sequence recognition by two selective binders, bulged DNA microenvironments as molecular targets, DNA sequence specific binding by short peptides and the analysis of DNA-protein interactions using DNase I footprinting methodology.Features include:• Expert contributors from the Biomedical world• Emerging areas of drug design and therapeutic applications• Nucleic acid-protein interactions• Color graphics of molecular modeling analyses• New and emerging methodologies

  • In VIVO Footprinting

    • 1st Edition
    • Volume 21
    • I.L. Cartwright
    • English
    The revolution in biological research initiated by the demonstration that particular DNA molecules could be isolated, recombined in novel ways, and conveniently replicated to high copy number in vivo for further study, that is, the recombinant DNA era, has spawned many additional advances, both methodological and intellectual, that have enhanced our understanding of cellular processes to an astonishing degree. As part of the subsequent outpouring of information, research exploring the mechanisms of gene regulation, both in prokaryotes and eukaryotes (but particularly the latter), has been particularly well represented. Although no one technical approach can be said to have brought the filed to its current level of sophistication, the ability to map the interactions of trans-acting factors with their DNA recognition sequences to a high level of precision has certainly been one of the more important advances. This "footprinting" approach has become almost ubiquitous in gene regulatory studies; however, it is in its "in vivo" application that ambiguities, confusions, and inconsistencies that may arise from a purely "in vitro"-based approach can often be resolved and placed in their proper perspective. Put more simply, that an interaction can be demonstrated to occur between purified factors and a particular piece of DNA in a test tube does not, of course, say anything regarding whether such interactions are occurring in vivo. The ability to probe for such interactions as they occur inside cells, with due attention paid to the relevant developmental stage, or to the tissue specificity of the interaction being probed, has made in vivo footprinting approach an invaluable adjunct to the "gene jockey's" arsenal of weapons.

  • Advances in DNA Sequence-Specific Agents

    • 1st Edition
    • Volume 2
    • J.B. Chaires
    • English
    DNA sequence specificity is a sub-specialty in the general area of molecular recognition. This area includes macromolecular-molec... interactions (e.g., protein-DNA), oligomer-DNA interacitons (e.g., triple strands), and ligand-DNA interactions (e.g., drug-DNA). It is this latter group of DNA sequence specificity interactions that is the subject of Volumes 1 and 2 of Advances in DNA Sequence Specific Agents. As was the case for Volume 1, Part A also covers methodology, but in Volume 2 we include calorimetric titrations, molecular modeling, X-ray crystallographic and NMR structural studies, and transcriptional assays. Part B also follows the same format as Volume 1 and describes the sequence specificities and covalent and noncovalent interactions of small ligands with DNA.This volume is aimed in general at scientists who have an interest in deciphering the molecular mechanisms for sequence recognition of DNA. The methods have general applicability to small molecules as well as oligomers and proteins, while the examples provide general principles involved in sequence recognition.

  • Advances in DNA Sequence-specific Agents

    • 1st Edition
    • Volume 1
    • L.H. Hurley
    • English
    This volume is aimed in general at scientists who have an interest in deciphering the molecular mechanisms for sequence recognition of DNA. The methods have general applicability to small molecules as well as oligomers and proteins, while the examples provide general principles involved in sequence recognition.

  • Bacterial Genetic Systems

    • 1st Edition
    • Volume 204
    • John N. Abelson + 1 more
    • English
    This volume collates in one source methodology for in vivo genetic engineering and for genetic analysis in a wide range of bacteria. Not only is Escherichia coli well covered, but so are other emerging bacterial systems.

  • Recombinant DNA, Part E

    • 1st Edition
    • Volume 154
    • John N. Abelson + 1 more
    • English
    Recombinant DNA methods are powerful, revolutionary techniques for at least two reasons. First, they allow the isolation of single genes in large amounts from a pool of thousands or millions of genes. Second, the isolated genes or their regulatory regions can be modified at will and re-introduced into cells for expression at the RNA or protein levels. These attributes help to solve complex biological problems and to produce new and better products in the areas of health, agriculture and industry.Both volume 154 and 155 include the descriptions of several useful new restriction enzymes and rapid methods for DNA sequence analysis, along with a number of other useful methods.