Essays on Science and SocietyGenome-Sequencing Anniversary

Making Sense of the Data

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Science  25 Feb 2011:
Vol. 331, Issue 6020, pp. 1024-1025
DOI: 10.1126/science.1204089

There is an old aphorism that you wait forever for a London bus, and then two come along together. After the huge international efforts to sequence the human genome, the past 10 years have seen an explosion of data documenting human genetic variation, and we are at the tipping point for what will be an avalanche of high-quality human genomes. Within a few years, tens of thousands of human genomes will have been sequenced.

A major strand in research since the human genome sequence has been the systematic attempt to identify, annotate, and understand the functional elements in the genome. For much of this time, the collection and analysis of human variation data might have seemed to be running in parallel to the functional work, with no direct connection. But that is illusory: Data on human genetic diversity have proved to be a valuable tool in the quest to understand human biology. One example is recombination. We have learned a great deal recently about this fundamental biological process through the study of humans and, in particular, of human variation. Another is population genetics—as others have noted, human variation data offer an unparalleled opportunity to understand the forces shaping patterns of genetic diversity and to identify genomic elements under selection. But perhaps most significantly, the identification of DNA sequence variation associated with phenotypes of interest, particularly with human disease, provides the starting point on another route to understanding biological function. The growing number of examples where the path from sequence variant to function has been elucidated offers an encouraging pointer to coming progress.

Although the collection of whole-genome data from large numbers of individuals in disease studies is set to become routine, making sense of that data is not yet straightforward. There are formidable analytical challenges ahead, even in the research context. Moving this kind of information into the clinic takes the challenge to another level. Like others, I am an enthusiast for personalized medicine, but one of the biggest obstacles to the use of individual genomic information in health care will be the need for robust analytical tools for its interpretation.

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