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One step closer to the reference genome

Wednesday 18 Feb 15
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Simon Rasmussen
Associate Professor
DTU Bioinformatics
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Within a year, researchers expect to have mapped out the full reference genome or ‘the Danes’ shared hereditary material’.

By Mette Haagen Marcussen

Researchers have now succeeded in mapping the full individual genomes of the first 30 of 150 Danes to a very high level of quality. Once the mapping project has been completed, it will allow detailed analysis of the individual genetic differences between the Danish subjects, and provide an excellent starting point for individualized patient treatment in the future.

Backed by Innovation Fund Denmark, the national initiative ‘GenomeDenmark’ is the driving force behind this comprehensive project, which is now publishing its first findings in the internationally recognized journal Nature Communications.

The information is being collated in a database called ‘The Danish Reference Genome’. Researchers can use this database, which also includes a statistic overview of common genetic differences in Denmark, as a shared starting point and reference source.

The reference material can thus be used to identify new disease genes, because it makes it simpler to establish what is normal and what may cause illness. This will provide researchers with an invaluable tool when diagnosing and treating patients with genetically determined diseases in future.

Researchers believe that they will have mapped the full reference genome within a year. The huge project involves more than 50 researchers, as well as investments in equipment for large-scale DNA analysis and supercomputers for bioinformatic interpretation.

Article in DTUavisen no. 2, February 2015.

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