Page URL:

Human genetic variation mapped from 1,000 genomes

5 November 2012
Appeared in BioNews 680

Over 1,000 people from 14 countries have had their genomes mapped by scientists. The researchers say their study will help them examine genetic variation at the scale of national populations and identify more rare mutations associated with disease.

The international consortium, called The 1,000 Genomes Project, identified over 39 million mutations, most common and already known, but some rare. The rare variants were often restricted to specific local populations and many of these were described for the first time.

Professor Gil McVean of the University of Oxford, the lead author of the study said: 'Our research has found that each apparently healthy person carries hundreds of rare variants of genes that have a significant impact on how genes work, and a handful - from two to five - of rare changes that have been identified as contributing to disease in other people'.

The pilot study was launched in 2008 (reported in BioNews 442) and the first phase of the project involved the sequencing the genomes only six people. Since then the genomes of 1,092 people from the UK, Europe, East Asia, sub-Saharan Africa, and the Americas have been sequenced.

The scientists found that most common genetic variants are shared across global populations. However, according to Professor McVean, the most exciting find was that rare variants were usually geographically restricted. This information – and all the data is fully accessible to other researchers - will help scientists to interpret a person's genome in the context of the local genetic variation.

'The DNA donors in the study were not known to have any diseases, so this study gives us the genomic background we need for understanding which genetic variants are "within the normal range"', said Professor Aravinda Chakravarti of the John Hopkins School of Medicine in Baltimore, USA, who is involved in the project. 'With this tool, scientists now have a standard with which they can compare the genome of someone with diabetes, for example'.

However the study, published in the journal Nature, does have limitations. 'None of the 1,092 individuals in this project had their phenotype [their observable traits] characterised', Professor Eric Topol from the Scripps Research Institute, who was not involved in the study, told The Scientist. Without knowing the participant's phenotype, Professor Topol said, links cannot be made with the person's overall health.

Still, Dr Ewan Birney from the European Bioinformatics Institute, who is not part of the consortium, told The Scientist that 'The 1,000 Genomes Project is the backbone of our understanding for human variation. Both the data and the methods will be reused many times in the forthcoming decade'.

The final phase of the project, which is expected to finish next year, will sequence the genomes of a further 1,500 people from 12 new populations, including those in South Asia and parts of Africa.

'1000 genomes barrier' broken
University of Oxford (press release) |  1 November 2012
An integrated map of genetic variation from 1,092 human genomes
Nature |  1 November 2012
Mapping Genetic Variation
The Scientist |  31 October 2012
The groundbreaking 'genetic guidebook for humans' that could lead to radical new treatments for everything from cancer to heart disease
Mail Online |  31 October 2012
16 March 2015 - by Kirsty Oswald 
Scientists plan to study the genetics of 100,000 people living in East London to try and uncover why south Asian people are more vulnerable to certain health problems...
24 June 2013 - by Dr James Heather 
Big data, open science, and DNA a-go-go; last week's broadcast of The Life Scientific looked to have it all...
10 December 2012 - by Purvi Shah 
An average person carries roughly 400 potentially damaging mutations in their DNA, say geneticists...
10 December 2012 - by Antony Starza-Allen 
The UK Government has announced plans that will allow 100,000 NHS patients to have their whole genome sequenced over the next three to five years, as part of a move to boost economic growth in the life sciences industry...
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...
21 February 2011 - by Dr Lux Fatimathas 
An article published by a group of international scientists has said an over emphasis on the Human Genome Project (HGP) may risk a 'backlash' in the field of genetics and has called for an evaluation of where the 'real benefits' from genomic medicine will come from....
19 July 2010 - by Dr Jay Stone 
The largest study to link cancer cells' genetics with their sensitivity to treatment published its first results on the 15 July...
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...
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.