In a large-scale research project under supervision of University Medical Center Groningen (UMCG) researchers have developed a genetic profile of the Netherlands. The researchers have mapped the DNA sequences of 250 family trios, consisting of two parents and one child, across the Netherlands. It is the first time that the genes of healthy persons have been analyzed in this number and with this precision. The research is published in Nature Genetics on 29 June 2014.
Importance for genetics
“This profile allows for connecting genetic variation to illnesses’, says project leader Cisca Wijmenga (UMCG). ‘The Genome of the Netherlands can greatly accelerate research into genes that play a key role in the development of chronical and age-related diseases. We can now focus specifically on the disease-causing genes. The Genome of the Netherlands provides a catalogue that shows which amount of DNA variation is tolerable, and which amound eventually causes a disease.” A noticeable result is that every participant in this research on average turned out to have twenty mutations that were thought to cause rare diseases, although the participants were perfectly healthy.
New big data technology
Faster Big Data algorithms developed by Alexander Schönhuth from the Centrum Wiskunde & Informatica (CWI) are the first to be able to analyze and compare full DNA sequences. ‘Previous methods were too slow to use all elements in the data set,’says Schönhuth. ‘There are good algorithms available to detect small and large variations, but middle-sized DNA differences were harder to find. No less than 98.4% of all variations our techniques found in this bandwidth were new and previously unknown.’
Unique collaboration
This unique, large-scale research project is initiated by BBMRI-NL, a collaboration between biobanks in the Netherlands. Researchers are involved from UMC Groningen, UMC Utrecht, Leiden UMC, VU University Amsterdam, AMC Amsterdam, UMC St. Radboud Nijmegen, Centrum Wiskunde & Informatica in Amsterdam and Erasmus MC in Rotterdam, and a number of foreign research groups.
Source: press release UMCG
