Deriving Meaning from Genomic Information

Abstract

As sequencing of the hUlnan genolne draws to a close, the fruits of this vision have already achieved startling 1l1aturity. By leveraging DNA sequence information toward robust~ new technological platforms, researchers are rapidly recharting the 1l1odern course of molecular genetics. Until now, the currencies of genolnic experimentation have renlained recognizable, if vastly increased in scope. We are still assaying the regulation of gene activity or linking phenotypes to genetic variation only on a scale fouT or five orders of magnitude greater than before. Indeed, many in the scientific comnlunity first elnbraced genomics for its pronlise of a \vealth of data traditionally generated through more painstaking means. But large-scale technologies presage far deeper change in the very way we think about biological systeJns. The results of experilllental genoJnics noisy~ sparse in context, and overwhelmingly vast in scope resist the bounded conclusions drawn from conventional biological study. Rather, these data reflect the cOlnbinatorial con1plexity of cellular systems and challenge us to discenl the pattenls underlying biological design. GenoJllic approaches reveal not only discrete links that connect individual proteins and phenotypes, but also broad comnlunications between parts of pathways, chromosolnes, and cellular process. Ultimately, these studies may prove Inost valuable for providing answers to those questions we never set out to ask. Divining these new sorts of conclusions is a task to which biologists find themselves largely unaccuston1ed. And so, as genolnic data proliferates, accessing and drawing Ineaningful insights will soon pose as great a technological challenge as production of the data itself. In the past t\\'O years, nlore infornlation regarding genetic diversity and nlRNA expression has been released into the public domain than frolll the preceding ten. That this drastic acceleration can be explained primarily by largesc,l1e DNA sequencing capability and the increasing popularity of DNA an-ays