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Books in Human genetics

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    • Genome Chaos

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

    • Metagenomics

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

    • Personalized Epigenetics

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

    • On Epigenetics and Evolution

      • 1st Edition
      • Carlos M. Guerrero-Bosagna
      • English
      On Epigenetics and Evolution, a new volume in the Translational Epigenetics series, introduces key themes from current epigenetic evolution research, with contributions from leading scientists around the world that investigate the role of epigenetic mechanisms in evolution from a variety of different angles, with each contribution combining theory, current research overviews, and applications. This book gives researchers, students, and clinicians a better understanding of the origin of genotypic and phenotypic variability, the role of epigenetics in development and inheritance, how epigenetics may affect speciation, and the evolution of epigenetic mechanisms in different taxa, and helps them apply their learnings across new research. Other modalities and subtopics explored include epigenetics in neutral and also adaptive evolution; epigenetic evolution in plants, invertebrates, and vertebrates; and the role of epigenetics in human evolution and its societal impact.

    • Phylogenomics

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

    • Clinical Genomics

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

    • Applications of Metagenomics

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

    • Epigenetics in Human Disease

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

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

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

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

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