To probe diseases such as diabetes, cancer, autism, and heart disease, genome-wide association studies use high-throughput technologies that identify thousands of genetic variants in large numbers of individuals. The value of these studies, and their decreasing cost, have made large-scale genetic variation studies feasible for many laboratories interested in heritable diseases, population diversity, evolution, and natural selection. Genetic Variation is the first compendium of protocols for studying qenetic variation. The early sections of the manual are devoted to studying design and the generation of genotypic data; the use of resources such as HapMap and dbSNP; and experimental, statistical, and bioinformatic approaches for analyzing the data. Detailed step-by-step protocols cover all levels of analysis, including sample handling and extraction, whole-genome amplification, high-density genotyping, and comparative genomic hybridization. The protocols can be applied to the complete spectrum of genetic variation - from SNPs, indels, and microsatellites to more complex structural alterations, including chromosomal rearrangments and copy number variation. In addition to detailed technical advice, Genetic Variation provides substantial background information on the applications of these technologies for human and model organism studies. The book offers advice on study design, choice of population, and data interpretation. Ethical issues are also considered: Procedures and requirements for obtaining informed consent are included, and appropriate measures for maintaining privacy protection when handling the associated samples and data are discussed. The final sections of the manual include descriptions of genetic variation in humans and a range of model organisms that include three plant species (Arabidopsis, corn, and rice) and five mammalian species (mouse, rat, cat, dog, and chimpanzee). For each species, available genetic maps, resources, and tools are described; strains and sources of genetic material are outlined; and large-scale projects and ongoing studies are reviewed. Finally, Genetic Variation outlines recent advances in human genetic ancestry, forensics, and human variation and discusses the potential for personalized genomic medicine.
165.2 (Molekulargenetik, Molekularbiologie, Genomik, genetische Kartierung) 165.3 (Allgemeines über Vererbung, Genetik und Züchtung, Variation [Praktische Anwendung siehe 232.13 und 232.311.3]) 165.4 (Hauptmethoden der Züchtung. Zytogenetik; Chromosomen und Gene)
