Phenomenal amount of data
The Wellcome Trust Sanger Institute, based in Cambridge, has sequenced the equivalent of 300 human genomes in just over six months. Dr Julian Parkhill, the Trust’s Director of Sequencing, has announced that the Institute has ‘passed a milestone’ with this ‘phenomenal amount of data’ The Institute, has been heavily involved in the original Human Genome research which is accelerating. Every two minutes the Institute produces as much sequence as was deposited in the first five years of the international DNA sequence databases, which started in 1982.

Mapping the human genome was just the start, a reference point by which scientists could begin to produce answers to the questions of how diseases develop and how they can be treated in more sophisticated ways. ‘Over the last year or two there have been new machines available that have only recently started to be used’ explains Parkhill. ‘People have been talking about the next generation of sequencing for a while and we, along with other people, have got these machines and really started working with them.’

End of the beginning
The Institute’s 1000 Human Genome Project and the Cancer Genome Project are also cataloguing variations so they can be associated with a disease. ‘Cancer is a genetic disease, it involves genetic changes to certain cells in our body which then proliferate and become cancerous,’ explains Parkhill. ‘Having a reference sequence and the ability to study variation in depth means we can now look at what individual genetic changes have occurred. Once we have found those changes, those pathways to change, it gives us a handle on the target and how we can treat any issues.’

As Parkhill points out, the research into genetic variations is only the end of the beginning. But the scale of the new data is opening a rich seam for researchers.