Книга: Genetic Variation: Methods and Protocols (Methods in Molecular Biology)

With the continuing advances in sequencing technologies and the availability of thousands of distinct human genomes, we are fast approaching the day when 'personal genomes' become a standard study measure and a routine component of personal health records. In Genetic Variation: Methods and Protocols, expert researchers address the rising importance of genome variation, both at the level of the individual and in population-based studies of disease, with a collection of detailed protocols reflecting the nature and impact of genetic variation on human phenotypes. The contributions cover a majority of the most important forms of genetic variation studied today, including single nucleotide polymorphisms (SNPs), insertions/deletion (indels), copy number variation (CNVs), variable number tandem repeats (VNTRs), mitochondrial variation, mobile elements, and epigenetic variation. As a volume in the highly successful Methods in Molecular Biologya?? series, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and notes on troubleshooting and avoiding known pitfalls. Convenient and cutting-edge, Genetic Variation: Methods and Protocols aims to bring bench scientists, clinicians, and bioinformaticians together in order to aid progress toward a greater understanding of the full impact of variation on human health and disease.