Ebook: Next-Generation Sequencing & Molecular Diagnostics

In striving to improve healthcare, the field of genome sciences is rapidly evolving into clinical genomics. Changes in the structure, regulation and function of the human genome define disease pathogenesis. Fast and accurate DNA sequencing at a genome-wide scale, at a relatively low cost, has revolutionized life science and research. Next-generation sequencing (NGS) technologies coupled with advanced microarrays referred together as high-throughput technologies (HTs) enable new identification of mutations and deeper exploration of the functional principles orchestrating the function of genes, genomes and cells. Translating these complex genomic discoveries into clinical medicine offers substantial benefits as we move toward clinical personalized health management. In this book, internationally renowned experts explore the power and challenges for the integration of NGS into the clinic.