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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.