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This book provides concise and evidence-based technical and practical information on the applied and translational aspects of genome sciences and the technologies related to nonclinical medicine and public health. Coverage is based on evolving paradigms of genomic medicine--in particular, the relation to public and population health genomics now being rapidly incorporated in health management and administration, with implications for clinical population and disease management.

Genetics --- Human genetics

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La médecine deviendra à terme une science guidée par les données. Les patients, possesseurs de leurs propres données génétiques et biologiques, générées aussi à l’aide de biocapteurs portatifs déjà bien présents dans le commerce, créeront avec leurs pairs malades des réseaux pour les interpréter. Ils deviendront ainsi parfois plus savants que leurs médecins. Des médecins qui seront souvent contraints de s’en remettre à des algorithmes informatiques aptes à analyser bien plus rapidement qu’eux ces gigantesques quantités d’informations produites par le grand public. Pour autant que celui-ci consente à confier pour analyse ce patrimoine génétique personnel pouvant révéler des informations de santé à haute valeur pour les compagnies d’assurance ou les employeurs. Un désir de confidentialité compréhensible, mais qui induit un nouveau sophisme : chaque génome personnel a peu d’utilité s’il n’est partagé, car ce n’est que la puissance statistique appliquée à des milliers de génomes comparés entre eux qui permettra d’identifier des liens clairs entre (groupes de) mutations génétiques et pathologies. [Payot]

Diseases --- Genetic screening --- Personalized medicine --- Empreintes génétiques. --- Médecine préventive. --- Médecine prédictive. --- Dépistage génétique. --- Health Knowledge, Attitudes, Practice. --- Precision Medicine. --- Risk factors.

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Genetics, Medical --- Hereditary Diseases --- Phenotype --- Human chromosome abnormalities --- Human chromosomes --- Medical genetics --- Chromosomes humains --- Génétique médicale --- bibliography --- encyclopedias --- bibliographies --- Catalogs and collections --- Bibliography --- Dictionaries --- Anomalies --- Catalogues et collections --- Catalogues --- Bibliographie --- Dictionnaires --- Genetic Diseases, Inborn --- Genetics, Medical. --- Genetic Diseases, Inborn. --- Phenotype. --- -Human chromosomes --- -Medical genetics --- -Clinical genetics --- Diseases --- Heredity of disease --- Human genetics --- Medical sciences --- Pathology --- Genetic disorders --- Chromosomes --- Chromosome abnormalities --- Phenotypes --- Gene Expression --- Human Genetics --- Medical Genetics --- Genetics, Human --- Anthropology, Physical --- Chromosome Disorders --- Sex Chromosome Disorders --- Molecular Medicine --- Genetic Diseases --- Genetic Disorders --- Hereditary Disease --- Inborn Genetic Diseases --- Single-Gene Defects --- Defect, Single-Gene --- Defects, Single-Gene --- Disease, Genetic --- Disease, Hereditary --- Disease, Inborn Genetic --- Diseases, Genetic --- Diseases, Hereditary --- Diseases, Inborn Genetic --- Disorder, Genetic --- Disorders, Genetic --- Genetic Disease --- Genetic Disease, Inborn --- Genetic Disorder --- Inborn Genetic Disease --- Single Gene Defects --- Single-Gene Defect --- Genetic aspects --- Abnormalities --- -Catalogs and collections --- Génétique médicale --- bibliographies. --- encyclopedias. --- bibliography. --- Clinical genetics --- English --- Phenomics --- Medical genetics - Dictionaries --- Human chromosomes - Catalogs and collections --- Human chromosome abnormalities - Catalogs and collections --- Medical genetics - Bibliography --- Phenotype - encyclopedias --- Genetic Diseases, Inborn - bibliography --- Genetic Diseases, Inborn - encyclopedias --- Genetics, Medical - encyclopedias --- Genetics, Medical - bibliography --- Phenotype - bibliography

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The fourth, completely revised edition of this classic reference and textbook presents a cohesive and up-to-date exposition of the concepts, results, and problems underlying theory and practice in human and medical genetics. In the 10 years since the appearance of the third edition, many new insights have emerged for understanding the genetic basis of development and function in human health and disease. Human genetics, with its emphasis on molecular concepts and techniques, has become a key discipline in medicine and the biomedical sciences. The fourth edition has been extensively expanded by new chapters on timely topics such as epigenetics, pharmacogenetics, gene therapy, cloning, and genetic epidemiology, and databases for basic and clinical genetics. In addition a multi/chapter section giving an overview on the main model organisms (mouse, dog, worm, fly, fish) used in human genetics research has been introduced. This book will be of interest to human and medical geneticists, scientists in all biomedical sciences, physicians and epidemiologists, as well as to graduate and postgraduate students who desire to learn the fundamentals of this fascinating field.

Human genetics --- medische genetica --- genetica

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The fourth, completely revised edition of this classic reference and textbook presents a cohesive and up-to-date exposition of the concepts, results, and problems underlying theory and practice in human and medical genetics. In the 10 years since the appearance of the third edition, many new insights have emerged for understanding the genetic basis of development and function in human health and disease. Human genetics, with its emphasis on molecular concepts and techniques, has become a key discipline in medicine and the biomedical sciences. The fourth edition has been extensively expanded by new chapters on timely topics such as epigenetics, pharmacogenetics, gene therapy, cloning, and genetic epidemiology, and databases for basic and clinical genetics. In addition a multi/chapter section giving an overview on the main model organisms (mouse, dog, worm, fly, fish) used in human genetics research has been introduced. This book will be of interest to human and medical geneticists, scientists in all biomedical sciences, physicians and epidemiologists, as well as to graduate and postgraduate students who desire to learn the fundamentals of this fascinating field.

Human genetics --- medische genetica --- genetica