Applications of next-generation sequencing in cancer

Abstract

The completion of the Human Genome Project established a baseline for human genome reference sequence allowing characterization of various alterations underlying several human diseases, including cancer and has brought the field of genomics to this unprecedented moment of a great scientific ferment. It has also sparked a concomitant revolution in sequencing technologies that have become a fundamental tool for genome analysis with potential to transform medical practice. As an emerging field, the next-generation sequencing (NGS) technology has stimulated rapid cataloguing of all alterations in cancer genomes and has enabled researchers to look at large-scale genome events such as chromosomal lesions and copy-number variations as well as small-scale aberrations represented by point mutations, small insertions and deletions. Several advancements with smaller and faster versions of available technologies have recently been introduced, though they remain to be validated. Here, we review the application of NGS technology in understanding the underlying goal to catalogue human cancer-causing somatic mutations.