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Modern science has a good grip on most of those very few laws that drive life forward, most tellingly on how genetic material copies itself from parent to offspring. The innumerable variations however? Not so much. They are, after all, innumerable.
That does not mean that science is not trying, and Nature has published two new papers, the latest progress reports from this colossal effort. The papers mark the completion of the 1000 Genomes Project, the largest work yet to sequence the genetic information of hundreds of individuals in an attempt to tune into Mother Nature’s hum of human variation. It completes a set of genomic reference tools — resources of genetic data produced by international collaborations — that dates back 25 years to the start of the Human Genome Project.
The bigger job, of tracking the relationships between genetic variation and human disease to help to develop effective treatments, is not finished, and may never be. But it is important from time to time to acknowledge and celebrate landmarks of achievement along the way. This week marks one such landmark.
The data sets produced by the 1000 Genomes Project are already in use. The genetic details of the volunteers provide a publicly owned and openly available asset in the era of big data, and offer a foundation for further study. Applications range from hunts for the genetic roots of human illness to analyses of population genetics and evolutionary history.
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