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New project aims to read 1000 human genomes

27 January 2008
Appeared in BioNews 442

An international project to read the entire genetic code of at least 1000 individuals will result in a comprehensive catalogue of human variation that will accelerate efforts to identify genetic factors involved in health and disease, scientists announced last week. The '1000 Genomes Project' will take advantage of new, fast DNA sequencing technologies and powerful computing techniques to find out how the genetic make-up of people from around the world varies from the 'reference' human genome unveiled in 2003. The consortium includes the Wellcome Trust Sanger Institute, UK, the Beijing Genomics Institute (BGI) in China and the US National Human Genome Research Institute (NHGRI).

The first phase of the project will involve reading the genomes of just six people - two sets of parents and their adult children. This will allow the researchers to test the new technologies for sequencing DNA - that is, determining the order of the six billion DNA 'letters', or base-pairs, that make up the human genome. This will be followed by a less in-depth look at the genomes of a further 180 people, and then studies of about a 1000 different genes in 1000 individuals. These pilot studies are expected to last for about a year, with the rest of the project expected to take a further two years to complete, costing an estimated $30-50million.

The researchers hope that the results of this vast undertaking will allow them to identify new genetic variations involved in disease - even the more elusive ones that are only present in around one per cent of individuals. NHGRI director Francis Collins predicts that: 'This new project will increase the sensitivity of disease discovery efforts across the genome five-fold and within gene regions at least 10-fold', adding 'this will change the way we carry out studies of genetic disease'.

As well as detecting 'single letter' changes in DNA, called SNPs (single nucleotide polymorphisms), the project aims to provide a detailed picture of 'structural' variants - pieces of DNA that may be duplicated, missing or flipped around. Both types of DNA variation are thought to underlie human differences such as susceptibility to common diseases, and individual responses to drug treatments. 'This project reinforces our commitment to transform genomic information into tools that medical research can use to understand common disease', said Jun Wang, associate director of BGI, China.

The individuals being studied in the 1000 Genomes Project will remain anonymous, and the scientists are not collecting any medical or other information on the participants. However, the researchers hope that the project will eventually pave the way for the 'personal genomics' era of medicine, when it is envisaged that people will routinely have their entire genomes scanned for medically useful information.

1,000 Genomes Project: Expanding the Map of Human Genetics
Scientific American |  23 January 2008
International Consortium Announces the 1000 Genomes Project
NHGRI |  22 January 2008
Shortcut to cause of common disease
The Times |  23 January 2008
5 November 2012 - by Dr Nicola Davis 
Over 1,000 people from 14 countries have had their genomes mapped by scientists. The researchers say their study will help them examine genetic variations at the scale of national populations and further identification of the rare genetic variations related to many diseases...
30 July 2012 - by Dr Sarah Spain 
The 1000 Genomes Project, an initiative to sequence the genetic code of 2,500 people across five continents, has now successfully sequenced over 1,000 people's genomes...
20 June 2011 - by Ruth Pidsley 
US scientists have reported possibly the first example of using one person's genetic sequence to refine a diagnosis and provide personalised medical treatment. Whole-genome sequencing (WGS) helped pinpoint defects in the DNA of 14-year-old fraternal twins Noah and Alexis Beery causing their rare neurological condition, dopamine-responsive dystonia (DRD)...
1 November 2010 - by Owen Clark 
A four-year, £75m project to discover novel variations between human genomes has completed its pilot phase. Among the 1000 Genomes Project's initial findings are each person carries around 250 - 300 genetic mutations. Scientists have previously linked 50 - 100 of these mutations to inherited diseases...
28 June 2010 - by Dr Vivienne Raper 
The largest study of genetic differences between people to date - the 1,000 Genomes Project - has completed its pilot studies. The data is now freely available...
5 August 2005 - by BioNews 
Advances in genome sequencing technologies are bringing scientists one step closer to a time when it would cost as little as $1000 to read the entire genetic code of a person, two US teams say. A group based at Harvard Medical School has developed a method using beads and fluorescent...
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