NIH’s 1,000 Genomes Project gains wider access, from amednews.com

Researchers and physicians now will have access to the largest-known database of genetic variations thanks to a partnership announced in March between Amazon Web Services and the National Institutes of Health.

Through the partnership, the 200-terabyte 1000 Genomes Project database, equivalent to more than 30,000 standard DVDs, will be stored on Amazon’s cloud and accessible to anyone with an Internet connection and a computer capable of processing that amount of data. Tools to process the data also are available on Amazon for a fee that varies according to the data access and analyses needed. Amazon created a website explaining the computing requirements or tools that can be used to access the database (aws.amazon.com/1000genomes/).
The 1,000 Genomes Project was launched in 2008 to create the most comprehensive map of human genetic variation available anywhere in the world. The goal is to collect data from the genomes of more than 2,600 people from 26 populations around the world and find the majority of all genome variations in existence. The database now has the genome sequencing of 1,700 people.
Whole genome sequencing allows researchers to identify genetic variations that increase a person’s risk of developing any one of a variety of conditions or diseases.
“The explosion of biomedical data has already significantly advanced our understanding of health and disease. Now we want to find new and better ways to make the most of these data to speed discovery, innovation and improvements in the nation’s health and economy,” said Francis S. Collins, MD, PhD, NIH director.
Lisa Brooks, PhD, program director of the Genetics Variation Program at the NIH, said most research labs do not have access to such a large data set or the computing power to work with one. The NIH is investing this money to advance disease study that otherwise would be difficult to carry out, she said.
The 1,000 Genomes Project database is geared toward researchers as opposed to the practicing physician. But if a physician already deals with genetic testing, he or she could use the database to determine whether a patient’s genetic variation may have led to them developing a particular disease or condition, Brooks said. A physician’s office computer would not likely be able to process the data, but a doctor could get access through a teaching hospital that does research.

more... http://www.ama-assn.org/amednews/2012/04/16/bise0418.htm

NIH grabs share of Obama's $200M big data bet,

http://www.fiercebiotechit.com/story/nih-grabs-share-obamas-new-200m-bet-big-data/2012-04-02?utm_medium=nl&utm_source=internal

By Ryan McBride

Big data has won a $200 million endorsement from the White House, and the National Institutes of Health (NIH) stands to gain a sizable share of funding. The NIH revealed March 29 that it is one of 6 federal agencies in line to reap benefits from the initiative to find solutions for taming huge datasets.
The NIH and National Science Foundation have teamed up to award up to $25 million from the initiative for 15 to 20 projects in science and engineering fields. In the biomedical arena, for instance, the NIH wants to fund projects that could enable the crunching of massive amounts of data to aid scientific investigations. Also, the agency announced that digital data from the international 1000 Genomes Project will be hosted in the cloud by Amazon Web Services and be available for free.
President Obama's big data bet follows criticism from the scientific community that, despite the billions of dollars invested in genomic research and molecular biology studies, a relative pittance has gone into supporting the gigantic datasets that have resulted from those efforts. For example, cheap and fast DNA sequencing has motivated federally funded labs to explore sequencing, yet few of them have the internal computing power to manage and analyze the massive genomic datasets.

How massive? The 1000 Genomes Project eats up 200 terabytes of storage, equal to some 16 million filing cabinets stuffed with text or 30,000 DVDs, according to the NIH.

"Improving access to data from this important project will accelerate the ability of researchers to understand human genetic variation and its contribution to health and disease," stated Dr. Eric Green, director of the NIH's National Human Genome Research Institute, which is one of the backers of the 1000 Genomes Project.

- here's the NIH's release
- check out InformationWeek's article