20.9.11

Why the human genome was important.

Theres been some controversy lately regarding the purpose of the human genome.

In my opinion, it was an obvious next step - sequence data needed to be collected...

However, if you don't know the history of bioinformatics, its hard to appreciate the power and importance of modern genomics.

So here it is : in 3 paragraphs ------------>

The first biomolecular “database” of protein sequences was created in 1965, containing approximately 70 sequence records (Dayhoff 1965, Strasser 2010). By the 1980s scientists were capable of scanning of several hundreds of biomolecular records at a time (typically in the form of nucleotide or protein sequences) in an automated manner. The automated nature of this paradigm enabled the discovery of connections that were never before imagined, such as that between viral “transforming factors” and human “growth factors” (Doolittle et al. 1983). The essentiality of computers, databases, and modern algorithms to biological inquisition was now obvious.

The reach of bioinformatics in this era was nevertheless severely limited. We now know that the hundreds of sequences comprising bioinformatics databases were but a small portion of the mammalian proteome (which consists of tens of thousands of genes). The time-consuming and laborious nature of gene and protein sequence data collection was a barrier to progress (Doolittle 2010). The curation and integration of such data, which was scattered about various literature archives, represented a second order of complexity associated with the management of sequence data at the time (Strasser 2010).

The Human Genome Project (HGP) was devised to address the need for higher throughput, comprehensive accumulation of sequenced data. The HGP brought automated methods for sequence acquisition to the forefront - directly addressing the data-collection bottleneck of the 1980s. The HGP revealed the vast majority of the protein-coding content of the human genome (Ventner et al. 2001). This enabled and inspired analytical treatment of cellular systems on a much larger scale:
In this landmark study, Craig Venter’s call to action resounds even today: “All genes and their control elements must be identified; their functions, in concert as well as in isolation, defined; their sequence variation worldwide described; and the relation between genome variation and specific phenotypic characteristics determined. Now we know what we have to explain.”

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