An extensive exercise to map genetic variation in Sweden has found 33 million genetic variants, 10 million of which are novel. Large-scale DNA sequencing methods were used to analyse the whole genome of 1000 individuals from different parts of the country.
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The data will also be of immediate use in clinical diagnostics to determine whether a genetic variation in a patient is a cause of disease, or if it is also present among healthy individuals in the population.
“Our study shows the presence of millions of previously unidentified genetic variants in Sweden, the majority of which occur at low frequency in the population. It is crucial to identify these low frequency variants to facilitate the diagnosis of genetic diseases,” says Adam Ameur, bioinformatician at Uppsala University and SciLifeLab, who has been responsible for the data analyses.
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“The resource is freely available, which enables researchers to quickly investigate genetic variant frequencies among the 1000 Swedish individuals. However, a special request must be approved for access to data on individuals, and all processing must be performed within a custom-built computer system with extra high security,” says [study leader Professor Ulf Gyllensten].
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