Sequence Analysis 101

A newbie’s guide to crunching next-generation sequencing data

Gregory Spencer /

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...

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Further Reading:

1. Nature Methods supplement on “Next-generation sequencing data analysis,” November 2009:
2. L.D. Stein, “The case for cloud computing in genome informatics,” Genome Biology, 11:207, 2010.
3. Bioinformatics “virtual issue” on next-generation sequencing:

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