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Human Molecular Genetics has been carefully crafted over successive editions to provide an authoritative introduction to the molecular aspects of human genetics, genomics and cell biology. Maintaining the features that have made previous editions so popular, this fifth edition has been completely updated in line with the latest developments in the field. Older technologies such as cloning and hybridization have been merged and summarized, coverage of newer DNA sequencing technologies has been expanded, and powerful new gene editing and single-cell genomics technologies have been added. The coverage of GWAS, functional genomics, stem cells, and disease modeling has been expanded. Greater focus is given to inheritance and variation in the context of populations and on the role of epigenetics in gene regulation. Key features: Fully integrated approach to the molecular aspects of human genetics, genomics, and cell biology - Accessible text is supported and enhanced throughout by superb artwork illustrating the key concepts and mechanisms - Summary boxes at the end of each chapter provide clear learning points - Annotated further reading helps readers navigate the wealth of additional information in this complex subject and provides direction for further study - Reorganized into five sections for improved access to related topics - Also new to this edition – brand new chapter on evolution and anthropology from the authors of the highly acclaimed Human Evolutionary Genetics. A proven and popular textbook for upper-level undergraduates and graduate students, the new edition of Human Molecular Genetics remains the ‘go-to’ book for those studying human molecular genetics or genomics courses around the world.

Human molecular genetics. --- Genome, Human. --- Molecular Biology. --- Genetics, Medical. --- Génétique moléculaire humaine --- Génome humain. --- Biologie moléculaire --- Génétique médicale --- Molecular biology --- Human genetics --- Human molecular genetics --- Molecular genetics --- Genome, Human --- Molecular Biology --- Biochemical Genetics --- Biology, Molecular --- Genetics, Biochemical --- Genetics, Molecular --- Molecular Genetics --- Biochemical Genetic --- Genetic, Biochemical --- Genetic, Molecular --- Molecular Genetic --- Genetic Phenomena --- Human Genome --- Genomes, Human --- Human Genomes --- Genetics, Medical --- Genetica --- Erfelijkheidsleer

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Biologie --- Biologie [Moleculaire ] --- Biologie moléculaire --- Biology [Molecular ] --- Genetica --- Genetics --- Génétique --- Moleculaire biologie --- Molecular biochemistry --- Molecular biology --- Molecular biophysics --- Genes --- Genetic engineering --- Human genome --- Gènes --- Génie génétique --- Génome humain --- Genomes. --- Genetic engineering. --- Genomes --- Genes. --- Genomics --- Haploidy --- Designed genetic change --- Engineering, Genetic --- Gene splicing --- Genetic intervention --- Genetic surgery --- Genetic recombination --- Biotechnology --- Transgenic organisms --- Cistron --- Gene --- Genetic Materials --- Cistrons --- Genetic Material --- Material, Genetic --- Materials, Genetic --- Genome --- Gènes --- Génie génétique --- Génome humain

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This text begins by defining the human genome, then looks at topics including: the historical development of genetics and the International Human Genome Project; prospects for the fields of medicine; health, pharmaceuticals and biotechnology.

#GBIB:CBMER --- 577.21 --- 575.113 --- menselijk genoom --- moleculaire genetica --- ethiek (ethische aspecten) --- predictieve geneeskunde --- 575.113 Gene. Genetic apparatus. Genome --- Gene. Genetic apparatus. Genome --- 577.21 Molecular mechanism of coding, storage and realization of inheritance information. Molecular genetics. Molecular biology of the gene --- Molecular mechanism of coding, storage and realization of inheritance information. Molecular genetics. Molecular biology of the gene --- génome humain --- génétique moléculaire --- ethique (aspects ethiques) --- médecine prédictive --- Professional ethics. Deontology --- Human genetics

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Biological techniques --- Enzymology --- Molecular biology --- Genetics --- Genomes --- Génétique --- Génomes --- Polymerase Chain Reaction --- Periodicals --- Périodiques --- periodicals --- Molecular Biology --- Gene mapping --- Nucleotide sequence --- Genetic Techniques. --- Genetics. --- Genome. --- Cartes chromosomiques --- Génome humain --- Réaction en chaîne de la polymérase --- Génétique humaine --- Gene mapping. --- Genomes. --- Nucleotide sequence. --- Séquençage --- Aspect moral --- Technique --- Gene Amplification. --- Polymerase Chain Reaction. --- Anchored Polymerase Chain Reaction --- Inverse Polymerase Chain Reaction --- Nested Polymerase Chain Reaction --- Anchored PCR --- Inverse PCR --- Nested PCR --- PCR --- PCR, Anchored --- PCR, Inverse --- PCR, Nested --- Polymerase Chain Reactions --- Reaction, Polymerase Chain --- Reactions, Polymerase Chain --- Ligase Chain Reaction --- Amplification, Gene --- DNA polymerases --- Genetica. --- Genomica. --- Engineering --- Health Sciences --- Life Sciences --- Biotechnology --- Physiology --- General and Others --- Gene Amplification

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Since the publication of the first edition of DNA Sequencing Protocols in 1993, major advances in its technology have made PCR-based semiautomated fluorescent sequencing the norm and enabled the complete sequencing of complex genomes. In DNA Sequencing Protocols, 2nd Edn., Colin Graham and a team of leading investigators and expert clinical scientists update the first edition with a collection of powerful, up-to-date PCR-based methods for DNA sequencing, many suitable for human genome sequencing and mutation detection in human disease. Each method provides detailed, step-by-step instructions to ensure successful results, and includes helpful notes identifying and addressing potential problems. This second edition offers new material on automated DNA sequencers, capillary DNA sequencers, heterozygote mutation detection, web-based sequencing databases and genome sequencing sites, and the human genome project. State-of-the-art and highly practical, DNA Sequencing Protocols, 2nd Edn. constitutes an essential laboratory handbook for geneticists and molecular biologists, offering concise, easy-to-follow methods that will impact today's genome sequencing projects, improve the accuracy and quality of DNA sequences obtained by smaller laboratories, and help lay the foundation for molecular diagnostics.

Nucleotide sequence --- Génome humain --- Laboratory manuals --- Séquençage --- Manuels de laboratoire --- DNA. --- Electronic books. -- local. --- Nucleotide sequence -- Laboratory manuals. --- Sequence Analysis --- Genetic Techniques --- Investigative Techniques --- Analytical, Diagnostic and Therapeutic Techniques and Equipment --- Sequence Analysis, DNA --- Human Anatomy & Physiology --- Health & Biological Sciences --- Animal Biochemistry --- Génome humain --- Séquençage --- Deoxyribonucleic acid --- Desoxyribonucleic acid --- Thymonucleic acid --- TNA (Nucleic acid) --- Deoxyribose --- Nucleic acids --- Genes --- Analysis, Nucleic acid sequence --- Analysis, Nucleotide sequence --- Base sequence (Nucleic acids) --- DNA sequence --- Nucleic acid sequence analysis --- Nucleotide sequence analysis --- RNA sequence --- Sequence, Nucleotide --- Nucleotides --- Sequence alignment (Bioinformatics) --- Analysis --- Cytology. --- Cell Biology. --- Cell biology --- Cellular biology --- Biology --- Cells