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Genomic Disorders - The Genomic Basis of Disease (Hardcover, 2006 ed.): James R Lupski, Pawel T. Stankiewicz Genomic Disorders - The Genomic Basis of Disease (Hardcover, 2006 ed.)
James R Lupski, Pawel T. Stankiewicz
R4,309 Discovery Miles 43 090 Ships in 12 - 17 working days

A grand summary and synthesis of the tremendous amount of data now available in the post genomic era on the structural features, architecture, and evolution of the human genome. The authors demonstrate how such architectural features may be important to both evolution and to explaining the susceptibility to those DNA rearrangements associated with disease. Technologies to assay for such structural variation of the human genome and to model genomic disorders in mice are also presented. Two appendices detail the genomic disorders, providing genomic features at the locus undergoing rearrangement, their clinical features, and frequency of detection.

Bacterial Genomes - Physical Structure and Analysis (Hardcover, 1998 ed.): F.J. de Bruijn, James R Lupski, G.M. Weinstock Bacterial Genomes - Physical Structure and Analysis (Hardcover, 1998 ed.)
F.J. de Bruijn, James R Lupski, G.M. Weinstock
R5,912 Discovery Miles 59 120 Ships in 10 - 15 working days

Bacterial Genomes provides an in-depth review of the latest research on the structure and stability of microbial genomes, and the techniques used to analyze and "fingerprint" them. Maps of a variety of microorganisms are featured, along with articles describing their construction and relevant features. Extensive tables summarizing the different types of techniques available to analyze the genomes of these microorganisms are also presented. Among those who will find this text most useful are genome researchers, microbiologists, molecular biologists, bacteriologists, infectious disease researchers, and molecular evolutionary biologists. Researchers and students working in the field of molecular evolution in general will also be interested in this book since microbes are such popular model systems.

Bacterial Genomes - Physical Structure and Analysis (Paperback, Softcover reprint of the original 1st ed. 1998): F.J. de... Bacterial Genomes - Physical Structure and Analysis (Paperback, Softcover reprint of the original 1st ed. 1998)
F.J. de Bruijn, James R Lupski, G.M. Weinstock
R5,583 Discovery Miles 55 830 Ships in 10 - 15 working days

A wide range of microbiologists, molecular biologists, and molecular evolutionary biologists will find this new volume of singular interest. It summarizes the present knowledge about the structure and stability of microbial genomes, and reviews the techniques used to analyze and fingerprint them. Maps of approximately thirty important microbes, along with articles on the construction and relevant features of the maps are included. The volume is not intended as a complete compendium of all information on microbial genomes, but rather focuses on approaches, methods and good examples of the analysis of small genomes.

Genomics of Rare Diseases - Understanding Disease Genetics Using Genomic Approaches (Paperback): Claudia Gonzaga-Jauregui,... Genomics of Rare Diseases - Understanding Disease Genetics Using Genomic Approaches (Paperback)
Claudia Gonzaga-Jauregui, James R Lupski
R3,678 R3,253 Discovery Miles 32 530 Save R425 (12%) Ships in 12 - 17 working days

Genomics of Rare Diseases: Understanding Disease Genetics Using Genomic Approaches, a new volume in the Translational and Applied Genomics series, offers readers a broad understanding of current knowledge on rare diseases through a genomics lens. This clear understanding of the latest molecular and genomic technologies used to elucidate the molecular causes of more than 5,000 genetic disorders brings readers closer to unraveling many more that remain undefined and undiscovered. The challenges associated with performing rare disease research are also discussed, as well as the opportunities that the study of these disorders provides for improving our understanding of disease architecture and pathophysiology. Leading chapter authors in the field discuss approaches such as karyotyping and genomic sequencing for the better diagnosis and treatment of conditions including recessive diseases, dominant and X-linked disorders, de novo mutations, sporadic disorders and mosaicism.

Genomic Disorders - The Genomic Basis of Disease (Paperback, Softcover reprint of hardcover 1st ed. 2006): James R Lupski,... Genomic Disorders - The Genomic Basis of Disease (Paperback, Softcover reprint of hardcover 1st ed. 2006)
James R Lupski, Pawel T. Stankiewicz
R3,105 Discovery Miles 31 050 Ships in 10 - 15 working days

A grand summary and synthesis of the tremendous amount of data now available in the post genomic era on the structural features, architecture, and evolution of the human genome. The authors demonstrate how such architectural features may be important to both evolution and to explaining the susceptibility to those DNA rearrangements associated with disease. Technologies to assay for such structural variation of the human genome and to model genomic disorders in mice are also presented. Two appendices detail the genomic disorders, providing genomic features at the locus undergoing rearrangement, their clinical features, and frequency of detection.

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