First Author

The paper on page 315 marks the end of an era in human genetics. It presents the annotated sequence of chromosome 1, the final human chromosome to be ‘completed’ by the Human Genome Project. Although, as with all human chromosomes, some gaps in information remain, the paper means that virtually the whole human genome has now been sequenced and annotated. Simon Gregory, a molecular geneticist at Duke University in Durham, North Carolina, spoke to Nature about the latest paper and what the future might hold for human genetics.

How has the annotation of human chromosomes altered over the years?

There are a lot more data to draw from. For chromosome 1, we were able to overlay the additional data sets on top of the sequenced DNA. There are now much richer sets of data and better resources to work with, so the final product is more valuable to researchers.

Has our understanding of DNA changed?

The interesting thing will be finding out what the non-coding regions do. In the early days, these were dismissed as ‘junk DNA’, but I think we're learning that genes might be the horses and that regions of non-coding DNA are the jockeys.

What have you learned from being part of such a large project for so long?

I've been working on chromosome 1 for nine or ten years. It's been a fantastic project to be involved with — working with people from multiple cultures and continents. And it has established the ethos for publishing results in the public domain, which has had a knock-on effect for other projects.

How does your move from the Sanger Institute to Duke University mark your place in the Human Genome Project?

Careers have been put on hold for this once-in-a-lifetime opportunity. When you finish the annotation, you hand it over to the scientific community, to groups who learn how these genes play a role in biology and disease. I came to Duke because I want to work on diseases; I want to be a user of the sequence rather than a generator.

Is it odd not working in the genome project?

The Human Genome Project was fantastic, but it was operated in a rarefied atmosphere. There wasn't competition for grants in the traditional sense, as the roles of the sequencing centres were established early on. The only competition was of the fierce but friendly type to see who could get the most done. Outside the project, it's the real world. There's much more competition. You've got to face the real world yourself.