FinnGen: Unique genetic insights from combining isolated population and national health register data
Broad Institute · University of Helsinki · +45 more institutions
Abstract
ABSTRACT Population isolates such as Finland provide benefits in genetic studies because the allelic spectrum of damaging alleles in any gene is often concentrated on a small number of low-frequency variants (0.1% ≤ minor allele frequency < 5%), which survived the founding bottleneck, as opposed to being distributed over a much larger number of ultra--rare variants. While this advantage is well-- established in Mendelian genetics, its value in common disease genetics has been less explored. FinnGen aims to study the genome and national health register data of 500,000 Finns, already reaching 224,737 genotyped and phenotyped participants. Given the relatively high median age of participants (63 years) and…
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Authors
166- MKMitja KurkiCorresponding
Broad Institute, University of Helsinki, Massachusetts General Hospital, Institute for Molecular Medicine Finland
- JKJuha Karjalainen
Broad Institute, University of Helsinki, Massachusetts General Hospital, Institute for Molecular Medicine Finland
- PPPriit Palta
University of Helsinki, Institute for Molecular Medicine Finland, University of Tartu
- TPTimo P. Sipilä
University of Helsinki, Institute for Molecular Medicine Finland
- KKKati Kristiansson
Finnish Institute for Health and Welfare
Topics & keywords
- Genome-wide association study
- Genetics
- Biology
- Biobank
- Population
- Genetic association
- Allele
- Concordance