Variety of life: An effort to sequence thousands of people’s genomes reaches the end of the beginning

Editorial in Nature:

“Nature is an endless combination and repetition of very few laws,” said the nineteenth-century US poet Ralph Waldo Emerson. “She hums the old well-known air through innumerable variations.”

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 on pages 68 and 75 of this issue, Nature publishes 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 final goal remains to make this flood of population-level genetic research relevant to personal health. Emerson would have approved. He was a proponent of individualism, a political philosophy that emphasizes the moral worth of the individual. He celebrated the non-conformist. And when it comes to the few laws that dictate the repetition of genetics, it is not just the 2,504 people whose variation is detailed this week who are the non-conformists. We all are.

More here.