文献_Ten years of next generation sequencing technology.pdfVIP

TIGS-1132; No. of Pages 9 Review Ten years of next-generation sequencing technology 1 ´ ` 1 2 1 Erwin L. van Dijk , Helene Auger , Yan Jaszczyszyn , and Claude Thermes 1 Centre de Ge´ ne´tique Mole´ culaire – CNRS, Avenue de la Terrasse, 91198 Gif sur Yvette, France 2 Plateforme Inte´ gre´ e IMAGIF – CNRS, Avenue de la Terrasse, 91198 Gif sur Yvette, France Ten years ago next-generation sequencing (NGS) tech- and commercialization of next-generation sequencing nologies appeared on the market. During the past de- (NGS) technologies, as opposed to the automated Sanger cade, tremendous progress has been made in terms of method, which is considered a first-generation technology. speed, read length, and throughput, along with a sharp These new sequencing methods share three major reduction in per-base cost. Together, these advances improvements. First, instead of requiring bacterial cloning democratized NGS and paved the way for the develop- of DNA fragments they rely on the preparation of NGS ment of a large number of novel NGS applications in libraries in a cell free system. Second, instead of hundreds, basic science as well as in translational research areas such as clinical diagnostics, agrigenomics, and forensic Glossary science. Here we provide an overview of the evolution of Base-calling software: software to analyze the raw data produced by NGS and discuss the most significant improvements in