Navigation Links
1000 genomes study is 'guidebook' to how genes vary
Date:10/31/2012

A landmark project that has sequenced 1,092 human genomes from individuals around the world will help researchers to interpret the genetic changes in people with disease.

The first study to break the '1000 genomes barrier' will enable scientists to begin to examine genetic variations at the scale of the populations of individual countries, as well as guiding them in their search for the rare genetic variations related to many diseases.

The vast majority of genetic variation is shared with populations around the world but it is thought that a lot of the contribution to disease may come from rare variants of genes, found in 1 in 100 people or fewer. Researchers need to find these rare variants to see who has them and work out how they might contribute to a range of conditions from multiple sclerosis to heart disease and cancer.

The international team behind the 1000 Genomes Project found that rare gene variants tend to be restricted to particular geographic regions, because they typically arise from more recent mutations since humans spread across the world. By, for the first time, drilling down to genetic variants occurring at the scale of 1 in 100 people this study will enable researchers to interpret an individual's genome in the context of the genetic variation found in their own national population: identifying differences between genomes from 14 countries from Europe (including the UK) the Americas, East Asia and Africa.

A report of the research is published this week in the journal Nature.

'We are all walking natural experiments; some of our genes are switched off, some are active, whilst others are overactive,' said Professor Gil McVean of Oxford University, the lead author for the study. '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 study has been designed so that, as well as the genome data, researchers have access to living cells (cell lines) from all 1,092 of the individuals whose genomes have been sequenced. Scientists can now study how differences in the biology of these cells correlate with genetic differences.

'There are variations that jump out from the data as looking 'a bit bad for you', for example mutations in regions that regulate genes are likely to be 'bad news' possibly doing something dramatic to how cells behave,' said Dr Richard Durbin from the Wellcome Trust Sanger Institute, co-chair of the 1000 Genomes Project. 'Using our data you can now look to see if natural selection has been getting rid of such mutations giving you a clue as to how harmful these variants might be.'

The team's work is already being used to screen cancer genomes for mutations that might identify therapeutic pathways, to interpret the genomes of children with developmental disorders and to pin-point variation that leads to increased risk for complex diseases such as heart disease or multiple sclerosis.

Professor Gil McVean of Oxford University said: 'Our research shows that you can take localism much further: for example, even just within the UK, Orkney islanders will have different variations from mainlanders, and will be different again from those from other nearby islands. In the future we would like to reach the scale of having a grid of individuals giving us a different genome every couple of square kilometres but there is a long way to go before we can make this a reality.'

Sir Mark Walport, Director of the Wellcome Trust who part-funded the study, said: 'It is quite remarkable that we have gone from completion of the first human genome sequence in 2003 to being able to sequence more than a 1000 human genomes for a single study in 2012. This study is an important contribution to our understanding of human genetic variation in health and disease and the DNA sequences are freely available for analysis and use by researchers.'


'/>"/>

Contact: University of Oxford Press Office
press.office@admin.ox.ac.uk
44-186-528-3877
University of Oxford
Source:Eurekalert

Related medicine news :

1. Scientists Map Genomes of One Mans Sperm
2. New Stanford method enables sequencing of fetal genomes using only maternal blood sample
3. Genomes show how Staph bacteria gain resistance to last-line drug
4. Water Workouts a Great Alternative: Study
5. Gene Study Yields New Clues to Crohns Disease, Colitis
6. Health inequalities could be reduced by more effective health care, says new study
7. Automated calls help patients in under-developed countries manage blood pressure, U-M study finds
8. Health inequalities could be reduced by more effective healthcare, says new study
9. Study suggests too much risk associated with SSRI usage and pregnancy
10. Flirting Works as Negotiation Tactic for Women: Study
11. Study suggests new way to prevent recurrent ear infections
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:2/12/2016)... ... February 12, 2016 , ... Erlanger Agency has announced a new ... area. The latest campaign focuses on the fight against breast cancer, fundraising for a ... accepted here . , Carmen is a loving single mother of two boys ...
(Date:2/12/2016)... San Ramon, CA (PRWEB) , ... February 12, 2016 , ... ... tissue donation in northern California and Nevada, announced a partnership with San Ramon Regional ... be transferred to the hospital’s facilities as a way to accommodate a more certain ...
(Date:2/12/2016)... FL (PRWEB) , ... February 12, 2016 , ... For ... Dental hygienist Suzan Sweeney, RDH, and dental assistant Terrell Moore shortly before 7 a.m. ... joined dozens of dental professionals, donating their time and skills to help hundreds of ...
(Date:2/12/2016)... (PRWEB) , ... February 12, 2016 , ... ... “Revolutionizing Cancer Care.” , The print component of “Revolutionizing Cancer Care” ... Pittsburgh/Cleveland, New York, Washington DC/Baltimore, and Seattle, with a circulation of approximately 250,000 ...
(Date:2/12/2016)... ... 12, 2016 , ... Atlantic Information Services, Inc. (AIS) is ... an upcoming Feb. 24 webinar that will discuss ways health plans and PBMs ... as the $1,000-per-pill hepatitis C treatment Sovaldi and high-cost PCSK9 inhibitors to treat ...
Breaking Medicine News(10 mins):
(Date:2/12/2016)... Ky. , Feb. 12, 2016 /PRNewswire/ ... has completed a $47.1 million Series D ... Cormorant Asset Management, Hillhouse Capital Group and ... Morningside Venture Investments, AJU IB Investment, and ... be used to further advance clinical trials ...
(Date:2/11/2016)... The primary goal of this research is ... the usage of liquid biopsy. Key information the survey ... Timeframe of liquid biopsy adoption amidst future users - ... type - Sample inflow to conduct liquid biopsy tests ... and so on. - Correlation analysis of sample type ...
(Date:2/11/2016)... Feb. 11, 2016  Kindred Biosciences, Inc. (NASDAQ: ... improving the lives of pets, today announced the submission ... New Animal Drug Application (NADA) for Zimeta™ (dipyrone injection, ... (KB0120) of Zimeta for the control of pyrexia (fever) ... --> --> The Chemistry, ...
Breaking Medicine Technology: