Researcher Heidi Marjonen took part in a study in which more than 3,000 persons were given information of their 10-year disease risk for the most common diseases in Finland. She works as a genome expert at THL Biobank, processing genomic data of all THL Biobank cohorts. When genetic data is combined with clinical data, one can predict individual´s disease susceptibility. The overall 10-year risk evaluation was based on the genetic data and other traditional risk factors, such as gender, age, body mass index, blood pressure and cholesterol levels. The genetic risk was calculated as a personal polygenic risk score, taking into account millions genetic variations.
This data was stored on the ePouta platform for sensitive data in Finland’s ELIXIR node CSC, which enables a secure transfer between the portal’s user interface and the database.
The polygenic risk score, says Heidi Marjonen, is a major research trend. The risk score is a single value that reveals the genetic burden of a disease.
“Researchers receive information about the genome in a convenient way and allows to study the effect of genome on a disease or other traits in an individual.”
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CSC – IT Center for Science
is a non-profit, state-owned company administered by the Ministry of Education and Culture. CSC maintains and develops the state-owned, centralised IT infrastructure.
builds infrastructure in support of the biological sector. It brings together the leading organisations of 21 European countries and the EMBL European Molecular Biology Laboratory to form a common infrastructure for biological information. CSC – IT Center for Science is the Finnish centre within this infrastructure.