Bioinformatics Tools in Clinical Genomics

Abstract

The field of DNA sequencing experienced a transformational shift beginning in 2005 with the introduction of the first high-throughput, massively parallel DNA sequencing platform that ushered in the era of “next-generation sequencing.” Initially, next-generation sequencing (NGS) platforms generated millions of bases per instrument run which steadily progressed to the now routine output of billions of bases. These unprecedented data volumes have driven a renaissance in bioinformatics research and development resulting in a proliferation of open-source and commercial software algorithms to support the computational processing, analysis, and interpretation of NGS results. These efforts have facilitated a broad dissemination of NGS into every facet of biomedical research and into a growing list of clinical diagnostic applications from targeted multigene panels to whole-genome sequencing.