Page URL:

1,000 Genomes Project completes first phase

28 June 2010
Appeared in BioNews 564

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.

The 1,000 Genomes Project will now launch into its main phase, which involves sequencing the DNA of 2,500 people from 27 ethnic groups to identify genetic variations shared by many people that could contribute to disease.

'A decade ago, the Human Genome Project gave us the sequence of an individual human. The 1,000 Genomes Project is giving us the sequence of humanity as a species, of humans as a diverse population of individuals', Richard Durbin, of the Wellcome Trust Sanger Institute near Cambridge, who co-chairs the project, told The Times.

The pilot studies, launched in 2008, tested three sequencing strategies using high-throughput DNA screening technologies to examine many genomes and types of DNA variations.

One of the pilot studies focused on sequencing the coding regions of 1,000 genes taken from 700 people.

Another pilot study sequenced the genomes of six people from two nuclear families in detail to give a complete picture of within-family DNA variation. Each sample was sequenced 20 to 60 times using various techniques, according to

The third pilot study sequenced the genomes of 179 people and then compared them to see which genetic variants they share.

The final pilot data is free for researchers worldwide to download from the 1000 Genomes Project and National Center for Biotechnology Information (NCBI) websites.

Researchers with slower computers can access the data using Amazon Web services' Elastic Compute Cloud.

1000 Genomes
NCBI |  25 June 2010
1000 Genomes Project releases pilot data |  21 June 2010
1000 Genomes website
1000 Genomes Project |  31 March 2010
Boost to next generation human genetic research
Business Weekly |  21 June 2010
Genetic ‘map’ could predict diseases
The Times |  22 June 2010
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...
12 September 2011 - by Oliver Timmis 
On 25 July 2011 the Wellcome Trust turned 75, and to celebrate they have commissioned a collection of 15 stories based on some of the most interesting people they have funded...
25 July 2011 - by Heidi Colleran 
Ethnic and racial minorities are in danger of missing out on future medical advances - based on genetic research - because they are under-represented in basic studies, says a review published in Nature Genetics by a team of geneticists from Stanford University and University of California, San Francisco...
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...
15 February 2010 - by Charlie McDermott 
The International Human Epigenome Consortium (IHEC), launched in Paris last week, plans to map 1,000 reference epigenomes within a decade...
11 January 2010 - by Rose Palmer 
A landmark study is to sequence the entire genome of 3000 people to uncover the genetic roots of Type 2 diabetes, the Times newspaper has reported. The investigation, costing £15 million, is being carried out by an Anglo-American team. It is hoped that the results will help find improved ways to diagnose and treat the condition....
27 January 2008 - by Dr Jess Buxton 
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...
to add a Comment.

By posting a comment you agree to abide by the BioNews terms and conditions

Syndicate this story - click here to enquire about using this story.