Essays on Science and SocietyGenome-Sequencing Anniversary

Genome Literacy

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Science  11 Feb 2011:
Vol. 331, Issue 6018, pp. 689-690
DOI: 10.1126/science.1203237

The transition from knowing small patches of the genome to having whole human genomes available to explore has been a unique experience. The biggest surprise initially came from the number of protein-coding genes—estimates anywhere from 15,000 to 160,000 had appeared in the literature before the publications came out in 2001 and settled at 20,000 to 30,000 genes. Although protein-coding genes were the most identifiable functional elements in the human genome, 10 years ago, the exact location of regulatory regions was unknown, and only a small fraction of the variations existing within the human population had been characterized. Ten years later, the ability to use the complete human genome backbone to map sequence variation and the availability of technologies to interrogate genome function are driving our ability to read the compendium of functional elements and to understand how population variation effects them. The basic components in each genome are largely the same, but the way they are used differs from tissue to tissue and person to person. Understanding the rules of gene regulation, the grammar of the genome, is key to the understanding of the human body. And it is only with the full sequence that we will be able to learn the grammar of the genome. Each person's genome tells slightly different stories, and fascination comes with the discovery of the differences in those stories. To cite from the original papers: “The sequence is only the first level of understanding of the genome” and “Finally, it is has not escaped our notice that the more we learn about the human genome, the more there is to explore.”

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