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This book examines the utility of genome-wide association studies (GWAS) in the era of next-generation sequencing and big data, identifies limitations and potential means of overcoming them, and looks to the future of GWAS and what may lay beyond. GWAS are among the most powerful tools for elucidating the genetic aspects of human and disease diversity. In Genome-Wide Association Studies, experts in the field explore in depth the impacts of GWAS on genomic research into a variety of common diseases, including cardiovascular, autoimmune, diabetic, cancer, and infectious diseases. The book will equip readers with a sound understanding both of the types of disease and phenotypes that are suited for GWAS and of the ways in which a road map resulting from GWAS can lead to the realization of personalized/precision medicine: functional analysis, drug seeds, pathway analysis, disease mechanism, risk prediction, and diagnosis.
Medical genetics. --- Genomics. --- Genome research --- Genomes --- Molecular genetics --- Clinical genetics --- Diseases --- Heredity of disease --- Human genetics --- Medical sciences --- Pathology --- Genetic disorders --- Research --- Genetic aspects --- Human genetics. --- Cancer research. --- Immunology. --- Human Genetics. --- Cancer Research. --- Immunobiology --- Life sciences --- Serology --- Cancer research --- Genetics --- Heredity, Human --- Human biology --- Physical anthropology --- Genètica humana --- Antropologia física --- Biologia humana --- Genètica --- Herència humana --- Citogenètica humana --- Cromosomes humans --- Genètica de poblacions humanes --- Genètica mèdica --- Genètica molecular humana --- Psicologia genètica --- Genoma humà
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This book comprises a collection of chapters describing topics from traditional radiation cytogenetic analysis methods to the modern fluorescence based-analysis and high throughput automatic analysis methods. Cytogenetic analysis is important not only in order to understand radiation-induced DNA damage in cells, but it is also a standard biological method to estimate human radiation exposure in the radiation accidents. Therefore, we prepared a series of chapters not only covering biological aspects but also exploring radiation physics and radiation protection. Written for the highly successful Methods in Molecular Biology series, chapters include introductions to their respective topics, lists of the necessary materials and equipment, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Authoritative and practical, Radiation Cytogenetics: Methods and Protocols serves both novices working on their first experiments as well as experienced researchers searching for tried-and-true techniques to adapt for their own laboratory.
Human genetics. --- Cell culture. --- Human Genetics. --- Cell Culture. --- Cultures (Biology) --- Cytology --- Genetics --- Heredity, Human --- Human biology --- Physical anthropology --- Technique --- Citogenètica humana --- Bioquímica clínica --- Química clínica --- Citogenètica --- Genètica humana --- Anàlisis clíniques --- Diagnòstic bioquímic --- Diagnòstic químic --- Química mèdica --- Bioquímica --- Diagnòstic de laboratori --- Anàlisi d'orina --- Anàlisi de sang --- Enzimologia clínica --- Valors de referència (Medicina) --- Laboratoris clínics --- Bioquímica de les malalties --- Bioquímica mèdica --- Bioquímica patològica --- Patobioquímica --- Bioquímica clínica veterinària
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This volume provides a comprehensive review of concepts and protocols related to fluorescence in situ hybridization (FISH) applied to microbial cells. Chapters will serve guide for the design of new probes and the development of novel FISH-based protocols. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Authoritative and cutting-edge, Fluorescence In Situ Hybridization (FISH) for Microbial Cells: Methods and Concepts aims to ensure successful results in the further study of this vital field.
Microbis --- Hibridació --- Fluorescència --- Citogenètica --- Manuals de laboratori --- Tècniques de laboratori --- Genètica cel·lular --- Citologia --- Genètica --- Citogenètica humana --- Mapatge cromosòmic --- Luminescència --- Radioactivitat --- Immunofluorescència --- Microscòpia de fluorescència --- Efecte Mössbauer --- Enllumenat fluorescent --- Espectroscòpia de fluorescència --- Hibridació genètica --- Hibridització --- Herència (Biologia) --- Millora de les espècies --- Espècies (Biologia) --- Lleis de Mendel --- Microorganismes --- Gèrmens --- Organismes microscòpics --- Microbiologia agrícola --- Acritarcs --- Bacteris --- Microalgues --- Microbiota --- Microorganismes extremòfils --- Microorganismes patògens --- Perífiton --- Probiòtics --- Procariotes --- Protozous --- Virus --- Microbiologia --- Microscòpia --- Hibridisme --- Cytology. --- Microbiology. --- Cell Biology. --- Microbial biology --- Biology --- Microorganisms --- Cell biology --- Cellular biology --- Cells
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This textbook provides a concise introduction and useful overview of the field of human population genomics, making the highly technical and contemporary aspects more accessible to students and researchers from various fields. Over the past decade, there has been a deluge of genetic variation data from the entire genome of individuals from many populations. These data have allowed an unprecedented look at human history and how natural selection has impacted humans during this journey. Simultaneously, there have been increased efforts to determine how genetic variation affects complex traits in humans. Due to technological and methodological advances, progress has been made at determining the architecture of complex traits. Split in three parts, the book starts with the basics, followed by more advanced and current research. The first part provides an introduction to essential concepts in population genetics, which are relevant for any organism. The second part covers the genetics of complex traits in humans. The third part focuses on applying these techniques and concepts to genetic variation data to learn about demographic history and natural selection in humans. This new textbook aims to serve as a gateway to modern human population genetics research for those new to the field. It provides an indispensable resource for students, researchers and practitioners from disparate areas of expertise.
Genetics. --- Biomathematics. --- Bioinformatics. --- Genetics and Genomics. --- Genetics and Population Dynamics. --- Bio-informatics --- Biological informatics --- Biology --- Information science --- Computational biology --- Systems biology --- Mathematics --- Embryology --- Mendel's law --- Adaptation (Biology) --- Breeding --- Chromosomes --- Heredity --- Mutation (Biology) --- Variation (Biology) --- Data processing --- Human population genetics. --- Genomics. --- Human genetics --- Population genetics --- Genome research --- Genomes --- Molecular genetics --- Research --- Xenética humana --- Genètica humana --- Antropologia física --- Biologia humana --- Genètica --- Herència humana --- Citogenètica humana --- Cromosomes humans --- Genètica de poblacions humanes --- Genètica mèdica --- Genètica molecular humana --- Psicologia genètica --- Genoma humà
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The 3rd World Congress on Genetics, Geriatrics, and Neurodegenerative Disease Research (GeNeDis 2018), focuses on recent advances in genetics, geriatrics, and neurodegeneration, ranging from basic science to clinical and pharmaceutical developments. It also provides an international forum for the latest scientific discoveries, medical practices, and care initiatives. Advanced information technologies are discussed, including the basic research, implementation of medico-social policies, and the European and global issues in the funding of long-term care for elderly people.
Nervous system --- Degeneration --- Organs (Anatomy) --- Neurosciences --- Neurosciences. --- Human genetics. --- Human Genetics. --- Genetics --- Heredity, Human --- Human biology --- Physical anthropology --- Neural sciences --- Neurological sciences --- Neuroscience --- Medical sciences --- Genètica humana --- Neurociències --- Neurologia geriàtrica --- Bioinformàtica --- Neurogeriatria --- Geriatria --- Neurologia --- Informàtica biològica --- Ciències de la informació --- Biologia computacional --- Neurociència --- Ciències neurològiques --- Ciències de la salut --- Neuroanatomia --- Neurobiologia --- Neurociència computacional --- Neuroendocrinologia --- Neurofarmacologia --- Neurogenètica --- Neuroquímica --- Sistema nerviós --- Antropologia física --- Biologia humana --- Genètica --- Herència humana --- Citogenètica humana --- Cromosomes humans --- Genètica de poblacions humanes --- Genètica mèdica --- Genètica molecular humana --- Psicologia genètica --- Genoma humà --- Medical genetics. --- Neuroscience. --- Medical Genetics. --- Clinical genetics --- Diseases --- Heredity of disease --- Human genetics --- Pathology --- Genetic disorders --- Genetic aspects
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The world population is rapidly aging—it is estimated that by 1950, around 17% of the population will be elderly. In this context, aging involves several physiological, psychological and highly complex social processes that vary from one person to another. For a long time, medical care for older adults has focused on treating chronic, age-related diseases and their associated consequences. Recently, biomedical research brings a novel point of view to develop more effective interventions by targeting the aging process itself rather than separate conditions. There is a growing number of reports indicating that aging is driven by several interconnected mechanisms and biological components referred to as the molecular pillars of aging. Interfering with these mechanisms could help to treat, prevent, and understand the development of age-related diseases and associated syndromes. This book provides a clinical perspective and general update on biomedical and genetic research in aging, moving from an update in the molecular pillars of aging to a perspective of the most recent pharmacological, clinical, and diagnostic applications using genomic approaches and techniques. While this book focuses on the specifics of genetics and genomics, it also adopts a clinical perspective of geroscience, which seeks to understand the genetic, molecular and cellular mechanisms that make aging an important risk factor and, sometimes, a determining factor in the diseases and common chronic conditions of older people. Additionally, Clinical Genetics and Genomics of Aging is a significant contribution to support aging research, as it shows that collaboration across disciplines is relevant to progress in the field. As more and more people benefit from increased longevity, clinician and researchers will be empowered by this knowledge to contribute to the progress of aging research.
Human genetics. --- Human Genetics. --- Genetics --- Heredity, Human --- Human biology --- Physical anthropology --- Aging --- Genetic aspects. --- Gene Expression Regulation --- genetics --- Expression Regulation, Gene --- Regulation, Gene Action --- Regulation, Gene Expression --- Gene Action Regulation --- Regulation of Gene Expression --- RNAi Therapeutics --- Gene Regulatory Networks --- Envelliment --- Genètica humana --- Genòmica --- Genètica molecular --- Metagenòmica --- Nutrigenòmica --- Genomes --- Antropologia física --- Biologia humana --- Genètica --- Herència humana --- Citogenètica humana --- Cromosomes humans --- Genètica de poblacions humanes --- Genètica mèdica --- Genètica molecular humana --- Psicologia genètica --- Genoma humà --- Senectut --- Biologia del desenvolupament --- Persones de mitjana edat --- Persones grans --- Gerontologia --- Longevitat --- Envelliment cerebral --- Factors d'edat en les malalties
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This volume is about DNA damage and repair. It covers recent advances in several important research areas of this rapidly expanding field, and does so at several levels, from individual molecules to organisms. The topics include mechanisms of damage recognition by DNA repair enzymes, chromatin response to DNA damage, special ways of mutagenesis, biomarkers of genotoxicity, and the integrated organism response to genotoxic and other kinds of stress. The book starts with two chapters about structural and mechanistic features of protein–DNA interactions that ensure fast and reliable discrimination between targets – be it DNA modifications or specific sequences – and non-targets. Examples of particular proteins and their function in repair regulation, translesion synthesis and chromatin remodeling are discussed in the following three chapters. Next, more attention is given to the mutagenic consequences of failed or aberrant DNA repair, particularly in mitochondria and in runs of trinucleotide repeats. Moving to a human health-oriented view, the book presents data on two kinds of lesions, the widely found 8-oxoguanine and the dietary genotoxic adducts with aristolochic acids, as biomarkers of general oxidative stress and specific exposure, respectively. Two final chapters are devoted to the interplay of multiple factors, including genotoxic stress, in the complex phenotypes in humans (amyotrophic lateral sclerosis ) and plants (abiotic stress response). This volume will be of significant interest for scientists working in the field of DNA repair as well as for the general biochemistry and molecular biology audience.
Human genetics. --- Cell biology. --- Biochemistry. --- Molecular biology. --- Cancer research. --- Human Genetics. --- Cell Biology. --- Biochemistry, general. --- Molecular Medicine. --- Cancer Research. --- Cancer research --- Molecular biochemistry --- Molecular biophysics --- Biochemistry --- Biophysics --- Biomolecules --- Systems biology --- Biological chemistry --- Chemical composition of organisms --- Organisms --- Physiological chemistry --- Biology --- Chemistry --- Medical sciences --- Cell biology --- Cellular biology --- Cells --- Cytologists --- Genetics --- Heredity, Human --- Human biology --- Physical anthropology --- Composition --- Cytology. --- Reparació de l'ADN --- Genètica humana --- Antropologia física --- Biologia humana --- Genètica --- Herència humana --- Citogenètica humana --- Cromosomes humans --- Genètica de poblacions humanes --- Genètica mèdica --- Genètica molecular humana --- Psicologia genètica --- Genoma humà --- Mecanismes de reparació de l'àcid desoxiribonucleic --- Reparació de l'àcid desoxiribonucleic --- Genètica bioquímica --- Medicaments antineoplàstics
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Behavior genetics. --- Behavior genetic analysis --- Behavioral genetics --- Human behavior genetics --- Psychogenetics --- Genetics --- Psychology --- Desenvolupament de la personalitat --- Genetica humana --- Herència humana --- Herència i medi --- Genètica de la conducta --- Anàlisi genètic de la conducta --- Genètica del comportament --- Psicogenètica --- Genètica --- Psicologia --- Evolució de la conducta --- Cultura i herència --- Genètica i medi --- Medi i herència --- Herència (Biologia) --- Innatisme (Psicologia) --- Influència del medi ambient en l'home --- Herència en l'home --- Eugenèsia --- Genètica humana --- Degeneració --- Antropologia física --- Biologia humana --- Citogenètica humana --- Cromosomes humans --- Genètica de poblacions humanes --- Genètica mèdica --- Genètica molecular humana --- Psicologia genètica --- Genoma humà --- Desenvolupament del caràcter --- Formació del caràcter --- Personalitat --- Canvi (Psicologia) --- Desenvolupament moral --- Socialització
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Cancer --- Research. --- Cancer research --- Genètica humana --- Càncer --- Carcinoma --- Carcinosi --- Tumors --- Càncer d'ossos --- Càncer de cap --- Càncer de coll --- Càncer de bufeta --- Càncer de fetge --- Càncer de laringe --- Càncer de mama --- Càncer de pàncrees --- Càncer de pell --- Càncer de pròstata --- Càncer de pulmó --- Càncer de ronyó --- Càncer de tiroide --- Càncer d'ovari --- Càncer gastrointestinal --- Càncer ginecològic --- Càncer en els adolescents --- Càncer en els infants --- Medicaments antineoplàstics --- Melanoma --- Leucèmia --- Sarcoma --- Carcinògens --- Cèl·lules canceroses --- Cirurgia oncològica --- Infermeria oncològica --- Malalts de càncer --- Metàstasi --- Oncologia --- Antropologia física --- Biologia humana --- Genètica --- Herència humana --- Citogenètica humana --- Cromosomes humans --- Genètica de poblacions humanes --- Genètica mèdica --- Genètica molecular humana --- Psicologia genètica --- Genoma humà
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"Encompasses all aspects of chromosome biology and the application of molecular cytogenetic techniques in all areas of biomedicine."
Cytogenetics --- Chromosomes --- Molecular Biology --- Molecular genetics --- Cytogénétique --- Génétique moléculaire --- Periodicals. --- Périodiques --- Cytogenetics. --- Chromosomes. --- Biochemical Phenomena. --- Molecular genetics. --- Chromosome theory --- Biochemical Concepts --- Biochemical Phenomenon --- Biochemical Process --- Phenomena, Biochemical --- Biochemical Processes --- Biochemical Concept --- Concept, Biochemical --- Concepts, Biochemical --- Phenomenon, Biochemical --- Process, Biochemical --- Processes, Biochemical --- Chromosome --- Cytogenetic --- chromosome biology --- medical genetics --- Genetics --- Molecular biology --- Cytology --- Cell nuclei --- Crossing over (Genetics) --- Cytotaxonomy --- Karyokinesis --- Linkage (Genetics) --- Cytogenetic Analysis --- Chromosome Disorders --- Sex Chromosome Disorders --- moleculaire biologie --- Citogenètica. --- Cromosomes. --- Genètica molecular. --- Biologia molecular. --- Biofísica molecular --- Bioquímica molecular --- Biofísica --- Bioquímica --- Histoquímica --- Biologia molecular vegetal --- Codi genètic --- Diagnòstic molecular --- Endocrinologia molecular --- Evolució molecular --- Farmacologia molecular --- Genètica molecular --- Glicòmica --- Metabolòmica --- Microbiologia molecular --- Neurobiologia molecular --- Patologia molecular --- Proteòmica --- Reconeixement molecular --- Biomolècules --- Biologia molecular --- Genètica --- Clonatge molecular --- Elements genètics mòbils --- Genètica bioquímica --- Genètica molecular humana --- Genètica molecular vegetal --- Genòmica --- Gens --- Regulació genètica --- Variació en el nombre de còpies --- Herència (Biologia) --- Nuclis cel·lulars --- Anomalies cromosòmiques --- Al·lelomorfisme --- Cariotips --- Cromatina --- Cromosomes humans --- Cromosomes sexuals --- Recombinació genètica --- Telòmer --- Translocació (Genètica) --- Genètica cel·lular --- Citologia --- Citogenètica humana --- Mapatge cromosòmic
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