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This practical guide for both clinical and research geneticists explains how to calculate an individual's genetic risk based on information available from genetic testing and family pedigrees. The book begins with the general theory of estimating genetic risks, then progresses through familial and isolated cases, both simple and complex. Worked examples are provided throughout the text. The disorders are selected to be as widely applicable or adaptable as needed. New to this edition are sections on consanguinity, multipoint linkage analysis, non-parametric methods, homozygosity mapping and physical mapping. There is also a new chapter on other DNA-based calculations, including sections on paternity, zygosity, family reconstructions and quantification aof mitochondrial mutations.
Genetic disorders --- Medical genetics --- Hereditary Diseases --- DNA Probes --- Molecular Probe Techniques. --- Risk Factors. --- Diagnosis. --- Risk factors. --- Mathematics --- Problems, exercises, etc. --- diagnosis. --- diagnostic use. --- genetics. --- genetisch onderzoek --- risicoberekening --- recherche génétique --- calcul des risques --- Dna probes --- Hereditary diseases --- Molecular probe techniques. --- Diagnostic use. --- Genetics. --- Clinical genetics --- Diseases --- Heredity of disease --- Congenital diseases --- Disorders, Genetic --- Disorders, Inherited --- Genetic diseases --- Inherited diseases --- Genetic diagnosis --- Diagnosis --- Risk factors --- Mathematics&delete& --- Problems, exercises, etc --- Genetic aspects --- Human genetics --- Medical sciences --- Pathology
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Medical genetics --- Human genetics --- Law and legislation --- Congresses. --- Moral and ethical aspects --- ethiek (ethische aspecten) --- genetica (genen) --- Geneeskunde - Geneeskunst --- Genetica --- Medische ethiek --- Genetics --- Heredity, Human --- Human biology --- Physical anthropology --- Clinical genetics --- Diseases --- Heredity of disease --- Medical sciences --- Pathology --- Genetic disorders --- Moral and ethical aspects&delete& --- Congresses --- Law and legislation&delete& --- ethique (aspects ethiques) --- génétique (gènes) --- Médecine - Art de guérir --- Génétique --- Ethique médicale --- Genetic aspects --- Conferences - Meetings --- Medical genetics - Law and legislation - France - Congresses. --- Human genetics - Moral and ethical aspects - Congresses.
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Biochemistry --- Clinical biochemistry --- Pathology, Molecular --- Medical genetics --- Biochemistry. --- Clinical Medicine. --- Metabolic Diseases. --- Molecular Biology. --- Biochimie --- Biochimie clinique --- Pathologie moléculaire --- Génétique médicale --- Clinical biochemistry. --- Medical genetics. --- Pathology, Molecular. --- Clinical genetics --- Diseases --- Heredity of disease --- Medical biochemistry --- Pathobiochemistry --- Pathological biochemistry --- Molecular pathology --- Biological chemistry --- Chemical composition of organisms --- Organisms --- Physiological chemistry --- Biochemical Genetics --- Biology, Molecular --- Genetics, Biochemical --- Genetics, Molecular --- Molecular Genetics --- Biochemical Genetic --- Genetic, Biochemical --- Genetic, Molecular --- Molecular Genetic --- Diseases, Metabolic --- Thesaurismosis --- Disease, Metabolic --- Metabolic Disease --- Thesaurismoses --- Medicine, Clinical --- Genetic aspects --- Composition --- Human genetics --- Medical sciences --- Pathology --- Genetic disorders --- Molecular biology --- Physiology, Pathological --- Biology --- Chemistry --- Genetic Phenomena --- Clinical Medicine --- Metabolic Diseases --- Molecular Biology --- periodicals. --- Animal Biochemistry
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Containing a diverse collection of multidisciplinary ethical and legal expertise, the essays in this volume explore the highly controversial issues surrounding the use, storage, exchange and sale of the the very "stuff" of which we are made - human genetic material. The text focuses upon the issues of DNA sampling and testing, consent and confidentiality, banking policies, and genetic epidemiology and diversity. Since financial and technological pressures are inextricably linked to human genetics research, commercialization and patents are also examined.
Law --- Human genetics --- Professional ethics. Deontology --- Medical genetics --- Génétique humaine --- Law and legislation --- Congresses. --- Moral and ethical aspects --- Aspect moral --- Congrès --- -Medical genetics --- -#GBIB:CBMER --- genetica (genen) --- persoonlijke levenssfeer (privacy, bescherming van de persoonlijke levenssfeer, anonimiteit) --- genetische screening --- genetisch onderzoek --- patent (octrooi, patentrecht, octrooirecht, biopatent) --- weefselbank --- Clinical genetics --- Diseases --- Heredity of disease --- Medical sciences --- Pathology --- Genetic disorders --- Genetics --- Heredity, Human --- Human biology --- Physical anthropology --- -Congresses --- génétique (gènes) --- vie privée (protection de la vie privée, anonymat) --- dépistage génétique --- recherche génétique --- brevet (brevetabilité, brevetabilité biologique, droit de brevet, droit des brevets, brevetabilité du vivant) --- banque de tissus (banque de tissus humains) --- Genetic aspects --- Génétique humaine --- Congrès --- #GBIB:CBMER --- Moral and ethical aspects&delete& --- Congresses --- Law and legislation&delete&
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The philosophy of the right to know and the right not to know, Ruth Chadwick; individual rights and genetics - the historical perspective - a comment on Ruth Chadwick's paper, Urban Wiesing; sociological perspectives on the right to know and the right not to know, Mairi Levitt; the meaning of "rights" in the right to know debate, Ingmar Porn; rights to know and not to know - is there a need for a genetic privacy law?, Tony McGleenan; autonomy and a right not to know, Jorgen Husted; do "all men desire to know"? - a right of society to choose not to know about the genetics of personality traits, Darren Shickle; mass meida and public discussion in bioethics, Ruth Chadwick and Mairi Levitt; living with the future - genetic information and human existence, Henk ten Have.
Human chromosome abnormalities --- Genetic disorders --- Disease susceptibility --- Medical ethics --- Dépistage génétique --- Maladies héréditaires --- Prédisposition morbide --- Ethique médicale --- Diagnosis --- Moral and ethical aspects --- Genetic aspects --- Aspect moral --- Diagnostic --- Aspect génétique --- -#GBIB:CBMER --- genetica (genen) --- erfelijkheid (erfelijke aanleg) --- genetische test (genetische zelftest) --- predictieve genetische test (voorspellende genetische test) --- genetische databank (genetische informatie) --- recht op niet weten (recht op weten) --- persoonlijke levenssfeer (privacy, bescherming van de persoonlijke levenssfeer, anonimiteit) --- autonomie van de patiënt --- ethiek (ethische aspecten) --- Human chromosomes --- Chromosome abnormalities --- -Moral and ethical aspects --- génétique (gènes) --- hérédité (disposition héréditaire, prédisposition héréditaire) --- test génétique (autotest génétique) --- test génétique prédictif --- banque d'information génétique (base de données génétiques, information génétique) --- droit de ne pas savoir (droit de savoir) --- vie privée (protection de la vie privée, anonymat) --- autonomie du patient --- ethique (aspects ethiques) --- Abnormalities --- Dépistage génétique --- Maladies héréditaires --- Prédisposition morbide --- Ethique médicale --- Aspect génétique --- Medical law --- #GBIB:CBMER --- Diagnosis&delete& --- Professional ethics. Deontology --- Legal theory and methods. Philosophy of law --- Moral and ethical aspects.
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