Chapter 2 - Basic Bioinformatic Analyses of NGS Data

Abstract

The bottleneck in developing clinical applications of next generation sequencing is the storage and analysis of the large volumes of data that are generated. The applications are diverse but the common themes are computational and analytically challenging. We give here a broad overview of the various issues involved in handling such data, the concerns that need to be addressed at various steps of the processing of data, and presentation of results. We outline the principles and highlight tools and approaches, without being too specific, to give guidance to a clinician starting out in the field.