Eric D. Green, James D. Watson& Francis S. Collins write: Twenty-five years ago, the newly created US National Center for Human Genome Research (now the National Human Genome Research Institute; NHGRI), which the three of us have each directed, joined forces with US and international partners to launch the Human Genome Project (HGP). What happened next represents one of the most historically significant scientific endeavours: a 13-year quest to sequence all three billion base pairs of the human genome.

Even just a few years ago, discussions surrounding the HGP focused mainly on what insights the project had brought or would bring to our understanding of human disease. Only now is it clear that, as well as dramatically accelerating biomedical research, the HGP initiated a new way of doing science.

As biology’s first large-scale project, the HGP paved the way for numerous consortium-based research ventures. The NHGRI alone has been involved in launching more than 25 such projects since 2000. These have presented new challenges to biomedical research — demanding, for instance, that diverse groups from different countries and disciplines come together to share and analyse vast data sets. [Continue reading…]

The Independent reports: The most comprehensive study of the human genome has discovered that a sizeable minority of people are walking around with some of their genes missing without any apparent ill-effects, scientists have found.

A project to sequence and analyse the entire genetic code of more than 2,500 people drawn from 26 different ethnic populations from around the world has revealed that some genes do not seem to be as essential for health and life as previously believed.

The finding is just one to have emerged from the 1,000 Genomes Project set up in 2008 to study the genetic variation in at least this number of people in order to understand the variety of DNA types within the human population, the researchers said. [Continue reading…]