Fig. 1: FinnGen sample collection and phenotyping.
From: FinnGen provides genetic insights from a well-phenotyped isolated population
a, Samples collected from different geographical areas. The map of Finland is divided into major administrative areas. Coloured regions represent the areas of the nine biobanks that provide samples to FinnGen. The Finnish Institute for Health and Welfare (THL), the Blood Service and the Terveystalo biobanks are not regional. The circle size represents relative sample sizes. The number of samples given are those used in the analyses after QC. b, National registries utilized to construct FinnGen end points. The numbers indicate the number of events in each register at the time of FinnGen release. An individual can have multiple diagnoses and can have events from multiple registers contributing to the end point of the individual. c, Sample prevalence of major disease categories in FinnGen. Major diseases for each category were chosen for demonstration purposes (Supplementary Tables 3 and 4). d, Examples of registers used for constructing four selected end points. The y axis represents individuals with matching register code in each register according to FinnGen end point definitions. Each individual can contribute only once to each register but the same individual can be counted in multiple registers. e, Comparison of effect sizes (beta values) in known genome-wide significant loci between four example FinnGen end points and large reference GWAS. The y and x axes represent FinnGen and reference GWAS beta values respectively. Beta values are aligned to be positive in reference studies. Lines extending from points indicate standard errors of beta values. Regression lines omit intercept and two types of regressions are provided: unweighted and weighted by pooled standard errors from the two studies. Solid line indicates identity line and dotted line and dashed lines indicate unweighted and weighted regression, respectively. Sample sizes used for e are given in Supplementary Table 7. Only variants with P < 1 × 10−10 in reference study were included. A comparison of all 15 diseases is provided in the Supplementary Information. Part a adapted with permission from an original biobank map created by BBMRI.fi.
