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Preface The first edition of Molecular Diagnosis of Genetic Diseases was published in 1996 and was organized to present a series of key methodologies in the context of the diagnosis of particular
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In addition, it presents new methods relating to the analysis of the human genome through molecular, genomic and clinical methods. These are important topics for geneticists who work in human biology and genetics who are interested in understanding the origin and function of genes and the gene-based basis for disease. The second edition represents a major addition to the first edition and will be the ideal starting point for the reader interested in the development, structure and analysis of gene-based methods for the diagnosis of genetic diseases. The contents of this handbook are designed to be suitable for use in any laboratory, clinical or forensic setting, but are well suited for the laboratory environment. They include some very  complex and useful topics such as the human genome, the human chromosome structure and distribution, genomics and the Human Tissue Resource Center (TRC). There are also a number of new approaches to understanding how these genes or their products contribute to human diseases. The latest developments in human genetics and their application to human diseases are reviewed. The book will be of interest to geneticists and laymen; and also to researchers studying diseases of inherited and acquired mutations. Some topics presented in the book are: Basic knowledge of human genetics;  Analysis of the human genome; Gene therapy; Genomics and molecular genetics of hereditary and congenital disorders; Analysis of clinical cases;  Treatment planning;  Comparison of molecular, genomic, genotypic and genotypic analysis strategies;  Inference of human disease traits;   The development of tools for gene-based clinical applications;  The FEI's role and role in the development of gene-based diagnostic techniques for genetic conditions; and The development and validation of methods for the analysis of DNA by immunodeficiency virus (HIV) using genome wide approaches. The methods have been defined and tested in a number of  clinical examples both in the United States and internationally.  A further source of valuable information will be the section 'Gene function and function variants', which presents key information about the roles and reproductive outcomes of human genes in humans. This will enable the reader to assess whether they might be able to produce an allele result when a sequence is generated by a particular method. There are also several extensive tables that will be of interest to the user or researcher of genomic methods.

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