THL Biobank’s new Beacon discovery service includes 20 million genomic variants
THL Biobank and CSC – IT Center for Science Ltd are excited to announce the establishment of a new Beacon discovery service for genome data. In the first piloting phase, the service includes frequencies of 20 million genomic variants in a population of 105,000 Finnish sample donors. The service is available as part of the European wide ELIXIR Beacon Network, where researchers can search the frequencies of genomic variants from existing datasets. With 20 million genomic variants, THL Biobank’s Beacon becomes one of the most significant Beacon resources in the world.
The dataset featured in THL Biobank’s Beacon has been created as part of many international research collaborations and has been imputed by the FinnGen project against a Finnish population specific whole genome sequence backbone.
FinnGen project
The DNA samples used in this dataset are from THL Biobank’s different research collections (Figure 1). They include 44,000 genomes of participants from THL’s population-based health examination surveys. In these surveys, rich baseline data on demographics, lifestyle and health status were collected through questionnaires and interviews, while clinical data and samples were collected during clinical visits. Various biomarkers and NMR metabolomics were measured from the serum and plasma samples. Disease-specific research collections encompass studies of diabetes, psychosis, migraine, heart disease, and pulmonary fibrosis. The Finnish Twin Study and GeneRISK are also included in this dataset.
Figure 1. THL Biobank’s Beacon dataset of 105,000 unique genomes includes allele frequencies of 20 M genomic variants. The number of study participants in each type of research collection are shown.
The existence of the genomic variant in THL Biobank’s Beacon is publicly available, while registered users ("bona fide researcher") can also get exact information on the frequency of the variant in the Beacon dataset.
The service is powered by the international standards developed under an initiative of the Global Alliance for Genomics and Health (GA4GH), especially GA4GH Beacon and GA4GH Passport standards that enable federated data discovery and authorization. The technology is developed in ELIXIR Beacon project in European-wide collaboration and is funded by ELIXIR. THL Biobank’s Beacon is established as collaboration between THL, CSC and ELIXIR Finland.
Researchers interested in accessing the genome data as well as other biobank data for research purposes are highly encouraged to contact THL Biobank (admin.biobank (at) thl.fi).
