Progress in Genomic Medicine
-10%
portes grátis
Progress in Genomic Medicine
From Research to Clinical Application
Smith, Moyra
Elsevier Science & Technology
11/2021
396
Mole
Inglês
9780323915472
15 a 20 dias
820
Descrição não disponível.
Part I. History and Growth of Genetic Medicine 1. Documentation of units of inheritance and their contribution to phenotype2. Early documentation of inherited disorders through family studies 3. Discoveries in physiology, biochemistry, protein and enzyme studies between 1920-19704. Early translation of biochemical, metabolic and genetic discoveries into clinical medicine5. Advances in methods of genome analyses, nucleotide analyses and implications of variants
Part II. Clinical Applications of Genomic Medicine6. Expansion of use of genome analyses and sequencing to diagnosis of genetic diseases 7. Improved analyses of regulatory genome, transcriptome and gene function, mutation penetrance and clinical applications 8. Standardized phenotype documentation, documentation of genotype phenotype correlations9. Expansion of methods of gene editing therapy and analysis of safety and efficacy10. Public health applications of genetics including newborn screening and documentation of gene environment interactions 11. Analysis of variants associated with abnormal drug responses, genetics and genomics in drug design12. Genetic and genomic medicine relevance to cancer prevention, diagnosis, and treatment13. Benefits of the incorporation of genomic medicine in clinical practice14. Using insights from genomics to increase possibilities for treatment of genetic diseases
Part II. Clinical Applications of Genomic Medicine6. Expansion of use of genome analyses and sequencing to diagnosis of genetic diseases 7. Improved analyses of regulatory genome, transcriptome and gene function, mutation penetrance and clinical applications 8. Standardized phenotype documentation, documentation of genotype phenotype correlations9. Expansion of methods of gene editing therapy and analysis of safety and efficacy10. Public health applications of genetics including newborn screening and documentation of gene environment interactions 11. Analysis of variants associated with abnormal drug responses, genetics and genomics in drug design12. Genetic and genomic medicine relevance to cancer prevention, diagnosis, and treatment13. Benefits of the incorporation of genomic medicine in clinical practice14. Using insights from genomics to increase possibilities for treatment of genetic diseases
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ABO; Antisense; Ataxia; Blood groups; CAR-T cells; CRISPR-Cas; Cancer; Cerebral palsy; Chromosomes; Clinical findings; Coronary heart disease; Cystic fibrosis; DNA; DNA sequencing; Databases; Diseases; Documentation; Editing; Enhancer; Enzymes; Epilepsy; Family history; Functions; Gene isolation; Gene mapping; Gene transfer; Genes; Genotype; Germline; Haplotype; Hemoglobinopathies; Hemolytic disease; Hemophilia; Heterogeneity; Hypertension; Immunodeficiencies; Immunotherapy; Imprinting; Inheritance; Lysosome; Meiosis; Mendelian genetics; Metabolic disorders; Methylation; Micro RNAs; MicroRNAs; Microarrays; Mitochondria; Mosaicism; Mutation; Mutations; Neuromuscular diseases; Newborn screening; Newborn; Pathogenicity; Pharmacodynamics; Pharmacokinetics; Phenotype; Promoters; Properties; Protein; Proteins; RNA; Rearrangements; Rh blood groups; Ribosomes; Separation methods; Sequence; Sequencing; Short inhibitory RNAs; Signaling pathways; Somatic; Specific inflammatory disorders; Transcription; Transcription factors; Transcriptome analyses; Transfusion; Translation; Translational research; Undiagnosed disease; Units; Vectors; Wilson's disease
Part I. History and Growth of Genetic Medicine 1. Documentation of units of inheritance and their contribution to phenotype2. Early documentation of inherited disorders through family studies 3. Discoveries in physiology, biochemistry, protein and enzyme studies between 1920-19704. Early translation of biochemical, metabolic and genetic discoveries into clinical medicine5. Advances in methods of genome analyses, nucleotide analyses and implications of variants
Part II. Clinical Applications of Genomic Medicine6. Expansion of use of genome analyses and sequencing to diagnosis of genetic diseases 7. Improved analyses of regulatory genome, transcriptome and gene function, mutation penetrance and clinical applications 8. Standardized phenotype documentation, documentation of genotype phenotype correlations9. Expansion of methods of gene editing therapy and analysis of safety and efficacy10. Public health applications of genetics including newborn screening and documentation of gene environment interactions 11. Analysis of variants associated with abnormal drug responses, genetics and genomics in drug design12. Genetic and genomic medicine relevance to cancer prevention, diagnosis, and treatment13. Benefits of the incorporation of genomic medicine in clinical practice14. Using insights from genomics to increase possibilities for treatment of genetic diseases
Part II. Clinical Applications of Genomic Medicine6. Expansion of use of genome analyses and sequencing to diagnosis of genetic diseases 7. Improved analyses of regulatory genome, transcriptome and gene function, mutation penetrance and clinical applications 8. Standardized phenotype documentation, documentation of genotype phenotype correlations9. Expansion of methods of gene editing therapy and analysis of safety and efficacy10. Public health applications of genetics including newborn screening and documentation of gene environment interactions 11. Analysis of variants associated with abnormal drug responses, genetics and genomics in drug design12. Genetic and genomic medicine relevance to cancer prevention, diagnosis, and treatment13. Benefits of the incorporation of genomic medicine in clinical practice14. Using insights from genomics to increase possibilities for treatment of genetic diseases
Este título pertence ao(s) assunto(s) indicados(s). Para ver outros títulos clique no assunto desejado.
ABO; Antisense; Ataxia; Blood groups; CAR-T cells; CRISPR-Cas; Cancer; Cerebral palsy; Chromosomes; Clinical findings; Coronary heart disease; Cystic fibrosis; DNA; DNA sequencing; Databases; Diseases; Documentation; Editing; Enhancer; Enzymes; Epilepsy; Family history; Functions; Gene isolation; Gene mapping; Gene transfer; Genes; Genotype; Germline; Haplotype; Hemoglobinopathies; Hemolytic disease; Hemophilia; Heterogeneity; Hypertension; Immunodeficiencies; Immunotherapy; Imprinting; Inheritance; Lysosome; Meiosis; Mendelian genetics; Metabolic disorders; Methylation; Micro RNAs; MicroRNAs; Microarrays; Mitochondria; Mosaicism; Mutation; Mutations; Neuromuscular diseases; Newborn screening; Newborn; Pathogenicity; Pharmacodynamics; Pharmacokinetics; Phenotype; Promoters; Properties; Protein; Proteins; RNA; Rearrangements; Rh blood groups; Ribosomes; Separation methods; Sequence; Sequencing; Short inhibitory RNAs; Signaling pathways; Somatic; Specific inflammatory disorders; Transcription; Transcription factors; Transcriptome analyses; Transfusion; Translation; Translational research; Undiagnosed disease; Units; Vectors; Wilson's disease
