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Sequence Analysis 101

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

Written byJeffrey M. Perkel
| 8 min read

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GREGORY SPENCER / ISTOCKPHOTO.COM

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 ...

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