The first map of genetic variation in Sweden

SciLifeLab today presents the first map of genetic variation in Sweden. The results are based on whole genome DNA sequencing of 1 000 individuals, selected to cover the variation in the whole country. Thanks to this Sweden now has a national resource, which will facilitate research and diagnostics of genetic diseases. The information has today been made available for researchers in health care and life science, and constitutes a big step forward for genetic research globally.

"This map will have great impact on many international research projects which investigate the connection between genetic variants and diseases." Says Ulf Gyllensten at Uppsala University/SciLifeLab who leads the project.

The resource will also be directly useful for the health care sector to investigate if a genetic change in the patient is the probable cause of disease or if the variant is also present in healthy individuals.

“Diagnostics of inherited diseases have taken a leap forward thanks to the new methods for analysis of our genome.” Says Anna Wedell, at Karolinska Institutet who is also senior physician at Karolinska University Hospital.

”Interpretation of data from a patient’s genome is facilitated the more we know about normal genetic variation. With this map our ability to help the patients increases even further”. Says Anna Wedell.”

Read the complete press release at SciLifeLab

The resource is found at the Swedish Frequency resource for genomics (SweFreq) swefreq.nbis.se and a description of the dataset is available at http://biorxiv.org/content/early/2016/10/17/081505