Want to make information about the data in your human genomic data set more accessible whilst preserving the privacy of those who are sequenced?
Now you can thanks to the RDS Life Sciences Beacon Server Tutorial, a technically simple, open web service and tutorial powered through Nectar and developed by RCC Research Officer Dr Igor Makunin.
The Life Sciences (Genomics) RDS project, RCC and QCIF all part funded the Beacon Server.
As a demonstration of the technology, the Beacon Server has been populated with data from the 1000 Genomes collection.
The server includes a tutorial that takes researchers through the steps required to set up a Beacon Server with their own data sets.
Beacon Servers are part of a worldwide effort to make information about human genomic data open yet anonymous. International consortium the Global Alliance for Genomics and Health is driving the effort via "working together to create interoperable approaches to catalyze projects that will help unlock the great potential of genomic data". (See the Global Alliance Beacon web page.)
Researchers can query Beacon Servers to answer the question "Do you have a variant X at position Y in one of your sequences?" and a simple yes/no answer will be automatically returned. In doing this, minimal but valuable information about genetic variants can be provided whilst not providing the whole private sequence. On a wider scale, the Beacon Network combines Beacon Servers and allows queries such as 'Which lab has variant X?'
Biomathematician Dr Nick Hamilton, who works with both RCC, QCIF and UQ’s Institute of Molecular Biology, said, “Niklas Blomberg [Director of ELIXIR, sustainable European infrastructure for biological information] visited Australia late last year and is very excited about the potential to encourage researchers to share data in this way and was pleased to hear we were participating in this initiative.”
For more information about the Nectar Beacon Server please contact Dr Igor Makunin: i.makunin@uq.edu.au
