Sequence Analysis 101
A newbie’s guide to crunching next-generation sequencing data
Unless you’ve been hiding under a rock for the past few years, you know next-generation DNA sequencing is all the rage. The technique has gone from gee-whiz to practically routine in the five years since sequencing company 454 Life Sciences jump-started the revolution. In the past year alone, next-gen sequencers powered major strides in the 1000 Genomes Project and the Human Microbiome Project; identified the genes underlying Mendelian disorders like Joubert Syndrome and Miller Syndrome; and cracked the genomes of the apple, the body louse, and the cholera strain now ravaging Haiti.
“In some respects, the potential of [next-gen sequencing] is akin to the early days of PCR, with one’s imagination being the primary limitation to its use,” Michael Metzker, senior manager at the Human Genome Sequencing Center at the Baylor College of Medicine, wrote in early 2010 (Nat Rev Genet, 11:31-46, 2010).