Population isolates such as those in Finland benefit genetic research because deleterious alleles are often concentrated on a small number of low-frequency variants (0.1% ≤ minor allele frequency < 5%). These variants survived the founding bottleneck rather than being distributed over a large number of ultrarare variants. Although this effect is well established in Mendelian genetics, its value in common disease genetics is less explored1,2. FinnGen aims to study the genome and national health register data of 500,000 Finnish individuals. Given the relatively high median age of participants (63 years) and the substantial fraction of hospital-based recruitment, FinnGen is enriched for disease end points. Here we analyse data from 224,737 participants from FinnGen and study 15 diseases that have previously been investigated in large genome-wide association studies (GWASs). We also include meta-analyses of biobank data from Estonia and the United Kingdom. We identified 30 new associations, primarily low-frequency variants, enriched in the Finnish population. A GWAS of 1,932 diseases also identified 2,733 genome-wide significant associations (893 phenome-wide significant (PWS), P < 2.6 × 10–11) at 2,496 (771 PWS) independent loci with 807 (247 PWS) end points. Among these, fine-mapping implicated 148 (73 PWS) coding variants associated with 83 (42 PWS) end points. Moreover, 91 (47 PWS) had an allele frequency of <5% in non-Finnish European individuals, of which 62 (32 PWS) were enriched by more than twofold in Finland. These findings demonstrate the power of bottlenecked populations to find entry points into the biology of common diseases through low-frequency, high impact variants.

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 dominance of hospital-based recruitment, FinnGen is enriched for many disease endpoints often underrepresented in population-based studies (e.g., rarer immune-mediated diseases and late onset degenerative and ophthalmologic endpoints). We report here a genome-wide association study (GWAS) of 1,932 clinical endpoints defined from nationwide health registries. We identify genome--wide significant associations at 2,491 independent loci. Among these, finemapping implicates 148 putatively causal coding variants associated with 202 endpoints, 104 with low allele frequency (AF<10%) of which 62 were over two-fold enriched in Finland.We studied a benchmark set of 15 diseases that had previously been investigated in large genome-wide association studies. FinnGen discovery analyses were meta-analysed in Estonian and UK biobanks. We identify 30 novel associations, primarily low-frequency variants strongly enriched, in or specific to, the Finnish population and Uralic language family neighbors in Estonia and Russia.These findings demonstrate the power of bottlenecked populations to find unique entry points into the biology of common diseases through low-frequency, high impact variants. Such high impact variants have a potential to contribute to medical translation including drug discovery.

Parallel coordinate visualizations have a reputation of being difficult to understand, expertonly representations. We argue that this reputation may be partially unfounded, because many of the parallel coordinate browser implementations lack essential features. This paper presents a survey of current interaction techniques for parallel coordinate browsers and compares them to the visualization design guidelines in the literature. In addition, we report our experiences with parallel coordinate browser prototypes, and describe an experiment where we studied the immediate usability of parallel coordinate visualizations. In the experiment, 16 database professionals performed a set of tasks both with the SQL query language and a parallel coordinate browser. The results show that although the subjects had doubts about the general usefulness of the parallel coordinate technique, they could perform the tasks more efficiently with a parallel coordinate browser than with their familiar query language interface.

The Reorderable Matrix is a simple visualization method for quantitative tabular data. This paper examines how first-time users interact with the Reorderable Matrix and how well they perform a simple task of finding correlating attributes. Visualizing a set of data is a common task in various activities such as decision-making or opinion-forming. Typical situations are a person making business-related decisions, a doctor examining test results of a patient or an engineer making choices between different constructs. All these situations involve examining complex data interactions in a limited time. In this experiment the participants were interacting with the Reorderable Matrix for the first time and tried to find correlating attributes from an unfamiliar set of data.

We consider the backgrounds, applications, implementations, and user interfaces of the reorderable matrix originally introduced by Jacques Bertin. As a new tool for handling the matrix, we propose a new kind of interface for interactive cluster analysis. As the main tool to order the rows and columns, we use the well-known barycenter heuristic. Two user tests are performed to verify the usefulness of the automatic tools. Information Visualization (2005) 4, 32-48.

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In this paper, an energy efficient streetlight for pedestrian roads is introduced. Energy efficiency is achieved via up-to-date light-emitting diode (LED) technology and added intelligence utilising integrated sensors and wireless control. Thermal and electrical design of the luminaire contributed to good technical functionality. The performance of the luminaire was validated with testing. The luminaire was compared with commercial lamp and LED-based street lighting technology by technical values and user acceptance. Energy savings of 19-44% through improved luminous efficacy was demonstrated without added intelligence. With smart control further power saving potential of 40-60% was shown depending on the lighting environment and pedestrian presence. User feedback of a pilot installation comparing commercial luminaires with the newly developed streetlight revealed that on average the users preferred the developed streetlight over the commercial luminaires.

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