THL Biobank Imputation reference panel

The THL Biobank Imputation Reference Panel consists of pseudonymized reference genome data (high-coverage whole genome sequence) from a subset of THL Biobank’s sample donors (N= 1768). This reference dataset can be used for imputing researchers’ own genomic research data to over 10 million variants.

THL Biobank cohorts in SISu v3 reference panel:

FINRISK, N=1160 (National Institute for Health and Welfare/THL Biobank)

A representative, cross-sectional population surveys from six areas of Finland. Baseline years 1992, 1997, 2002 and 2007.

Health 2000 and 2011 Surveys, N=205 (National Institute for Health and Welfare/THL Biobank)

A nationally representative sample of individuals living in Finland in 2000-2001.

Migraine Family Study, N=403 (University of Helsinki/THL Biobank)

The sample collection includes persons who have been diagnosed with migraine and their family-members. The samples have been collected since 1992.

First-degree relatives in the Migraine Study have been removed from the reference panel data.

All the samples used in the THL Biobank SISu v3 reference panel have been sequenced at the Broad Institute of MIT and Harvard
The v3 imputation panel is in genome build GRCh38/hg38
The original SISU reference panel includes also some additional cohorts
Read more on Sequencing Initiative Suomi project (SISu)
Access to SISu v2 data (genome build GRCh37/hg37) cannot be granted by THL Biobank, but must be applied directly from the participating cohorts

Permission to use THL Biobank Imputation Reference Panel data is granted to the research group solely for imputing genomic results for specified projects/cohorts and for limited time. The imputed data remains in the use of the research group also after the access to the imputation panel data is expired. No other data from these individuals is provided from THL Biobank and the imputation panel data cannot be combined with any other data previously provided from the biobank.

The reference panel has been prepared by the Sequencing Informatics Team at FIMM, University of Helsinki lead by Priit Palta and including: Marita Isokallio, Kalle Pärn, Javier Nunez Fontarnau, Samuli Ripatti and Aarno Palotie.

Access to samples and data

Availability queries and application process to access THL Biobank resources

Genetic imputation service at UEF

A service for genetic imputation of research group's own genotype data using THL Biobank reference panel is available in the Bioinformatic Center of the University of Eastern Finland (UEF).
Read more about the Genetic imputation service at UEF