After close to 5 years of work, the GenomeDenmark consortium has now finalized the efforts to establish a Danish Reference genome. The result is a reference of unrivalled quality and information depth, as compared to other similar international references and studies. Due to the unique and high quality approach, the consortium consisting of three Danish universities and the genomics company BGI Europe has been able to analyze otherwise intractable genomics regions for the first time.
Furthermore and also for the first time, the Danish study has thoroughly mapped non-simple variation among individuals. Such information increases our understanding of how genetic differences affect the health and development of disease for individuals – and is the basis for implementation of the precision medicine concept. The reference genome work is published in the leading scientific journal Nature at a time, where the Danish Regions (responsible for the Danish hospitals) and the Health Ministry is ramping up the national Precision Medicine initiative with a newly established National Genomics Center.
The GenomeDenmark project leader Prof. Karsten Kristiansen, Department of Biology, University of Copenhagen says "With a combined national effort and unique approach, we have demonstrated that even a relatively small consortium can provide an important new genomics standard to the scientific community. We see our approach as part of the basis for the precision medicine agenda and hope that the national funding bodies and government will exploit the opportunity to increase the Danish efforts in this area – to improve the future public health and capture a health economics impact."
– Mikkel Heide Schierup, Department of Bioscience, Aarhus University, one of the leading professors behind the study continues. "Even though we sequence relatively few samples (150 persons), our approach allows us to build each genome separately. This makes us independent from external references and therefore allows us to discover a much larger catalogue of complex variation than before. Actually as much as 92% of the hundreds of thousands larger structural variations we identified were novel and missed in previous studies.
There is a lot of genetic variation related to the heritability of human diseases that awaits discovery. Therefore, continued research in this field is central for the clinical impact of genomics.
– Søren Brunak, another leading GenomeDenmark professor from the Center for Protein Research at the University of Copenhagen and the Department for Bio and Health Informatics at the Technical University of Denmark explains, "We know that further research is needed to establish causative relations between many of the new genotypes discovered and disease. However, due to the world-class Danish health registers and longitudinal studies, we are uniquely positioned to couple genomics and other types of health data large scale in Denmark. And we are heading that way, hoping to be able to keep our ambitions high."
For more information about the GenomeDenmark consortium and the Danish Reference Genome, please see http://www.genomedenmark.dk
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