1000 Genomes: a new foundation for genetic research

Uploaded by sangerinstitute on 27.10.2010

How do we come to be human? What is being human?
In my scientific lifetime we’ve moved from seeing almost nothing
To seeing almost everything about individual genomes
And I feel incredibly lucky actually to be involved in that phase of discovery
The 1000 Genomes Project is a consortium of scientific researchers around the world
Who’ve got together to use DNA sequencing to examine human genetic variation
And to find places where our genomes are different
If you take any two people, our DNA sequences are very long
There are three billion bases, and they’re almost the same as each other
But about one every thousand places there’s a difference
And that means there are about three million differences between each pair of people
The people who have been selected to form a sample for the 1000 Genomes Project
Are anonymous individuals and we selected them to be fully representative of their population
Initially we set up a pilot phase
And in that pilot phase we showed that we could do this
And we also found a lot of genetic variation
We doubled essentially the amount of common genetic variation that was known
We found over 15 million variants
We’re scaling up now into sort of production phases of the Project
And in fact we’re looking by next year to do 2000 people
An important aspect of this project is that it’s not just obtaining information that we’re going to use
We’re creating a publicly available resource that anybody can use
It’s going to be of most value to human geneticists, and they’re already using it
There are publications, there are other scientists who are using the data that we’ve produced
Already in the pilot phase, to make new discoveries, to study human evolution
Information from the Project has confirmed some of the things that we knew about human evolution
For example that we originated in Africa pretty recently and have expanded out of there
But it also gave us some new insights as well
It told us that natural selection has influenced virtually every part of our genome
As well as that, we’ve now got a catalogue of some thousands of genes
That we think have been specifically and positively selected in our fairly recent history
What we’re working towards is a catalogue, is a sort of encyclopedia which you can look things up
So it’s really a sort of fundamental framework or foundation for genetic research
There’ve been a lot of challenges in making the Project work and in getting as far as we have
There have been many innovations both in the technology – machinery of getting the DNA sequence
But also in the processing of the data and how we analyse and interpret genetic data
And all of that is getting published and discussed
So that it can be used by other people in future projects
What motivates me and probably most scientists is curiosity
To know what our genome sequences look like
And for someone who’s been interested in evolution then for quite a while now
Our dream has been to have whole genome sequences to use as a starting-point
Now we’ve got that