Research Activities
The FinnGen consortium engages in active research
In addition to collecting and producing data, FinnGen also carries out analyses to discover genetic variants that predispose to or protect against diseases. In its first two phases, FinnGen 1 and 2, the project’s goals were to collect, genotype, impute and analyse FinnGen data. The results of these core analyses, produced by the FinnGen teams, include GWAS and PheWas results of thousands of disease endpoints (phenotypes), finemapping of the GWAS hits, colocalization results of the GWAS hits and variant annotation. In the current 3rd phase of FinnGen, the core FinnGen analysis pipeline will be run on all relevant clinical laboratory values and results will be provided alongside other GWAS summary statistics and included in the PheWeb resource. Researchers of the consortium partners actively use the data and results in studying their genes and diseases of interest.
FinnGen investigates the biological significance of Finnish enriched variants
FinnGen has discovered more than 150 coding variants that are associated with disease and are specifically enriched in the Finnish population. These variants, which include both risk-causing and protective variants, can help identify targets for drug discovery. The biological consequences of these novel disease associated variants will be investigated using proteomics, single cell RNA and ATAC sequencing, high content cell imaging, immunoprofiling, clinical laboratory values and Electronic Health Record data.
FinnGen’s core analyses
Read more about the FinnGen’s core analyses
FinnGen 3
Read more about the current phase of the study
Cohort and Data
Read more about the FinnGen data sources
Publications
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List of FinnGen publications
FinnGen focuses on selected common diseases
FinnGen has selected about 10 common diseases for longitudinal analyses. The aim is to understand the genetic contribution to progression and therapeutic response by analysing disease trajectories and pre- and post-diagnostic states. The research into the selected diseases is driven by dedicated Task Forces, who design the analyses that take advantage of up to 50 years of longitudinal health data, clinical laboratory data and serial, longitudinal samples, which will be profiled by -omics to detect changes in biomarkers. Based on these data, FinnGen will develop new methods to analyse disease progression.
FinnGen 2 expanded into six pilots to broaden the scope of the project
During FinnGen 2, additional activities were added to the project by introducing six pilots, or expansion areas (EA), including: Enhancing the recruitment of specific clinical areas (EA1), Recontacting participants with questionnaires (EA2), Expanding the phenotype information with clinical data (EA3), a replication study (EA4), Blood analysis pipeline for follow-up functional studies and clinical and molecular characterization of Finnish enriched alleles (EA5) and Cognitive decline in prodromal Alzheimer’s (EA6).