8 research outputs found

    Sonification of directional and emotional content: Description of design challenges

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    Presented at the 14th International Conference on Auditory Display (ICAD2008) on June 24-27, 2008 in Paris, France.In the construction of sound objects into an application, the designer's skills to communicate through sounds is the cornerstone of the activity. In such an expertise, the knowledge about the human way of interpreting different properties of sounds is essential. This paper is a description of two experiments, in which the semantics of tempo change, pitch change and intensity change of sound has been studied by asking the participants of the experiments to combine sounds to visual images. The images in the first experiment were photos which had been validated in terms of their emotional content. In the second experiment, the images were arrows pointing in various directions. The results show that studying context independent semantics of non-speech sounds with the help of photos is problematic, but some tendencies can be revealed. On the other hand, simple information units like physical directions, can be illustrated with changes in intensity and tempo, but especially with change in pitch

    FinnGen provides genetic insights from a well-phenotyped isolated population

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    Evidence of a causal effect of genetic tendency to gain muscle mass on uterine leiomyomata

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    Uterine leiomyomata (UL) are the most common tumours of the female genital tract and the primary cause of surgical removal of the uterus. Genetic factors contribute to UL susceptibility. To add understanding to the heritable genetic risk factors, we conduct a genome-wide association study (GWAS) of UL in up to 426,558 European women from FinnGen and a previous UL meta-GWAS. In addition to the 50 known UL loci, we identify 22 loci that have not been associated with UL in prior studies. UL-associated loci harbour genes enriched for development, growth, and cellular senescence. Of particular interest are the smooth muscle cell differentiation and proliferation-regulating genes functioning on the myocardin-cyclin dependent kinase inhibitor 1A pathway. Our results further suggest that genetic predisposition to increased fat-free mass may be causally related to higher UL risk, underscoring the involvement of altered muscle tissue biology in UL pathophysiology. Overall, our findings add to the understanding of the genetic pathways underlying UL, which may aid in developing novel therapeutics.Peer reviewe

    Genetic architecture of human plasma lipidome and its link to cardiovascular disease

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    Abstract Understanding genetic architecture of plasma lipidome could provide better insights into lipid metabolism and its link to cardiovascular diseases (CVDs). Here, we perform genome-wide association analyses of 141 lipid species (n = 2,181 individuals), followed by phenome-wide scans with 25 CVD related phenotypes (n = 511,700 individuals). We identify 35 lipid-species-associated loci (P <5 ×10−8), 10 of which associate with CVD risk including five new loci-COL5A1, GLTPD2, SPTLC3, MBOAT7 and GALNT16 (false discovery rate<0.05). We identify loci for lipid species that are shown to predict CVD e.g., SPTLC3 for CER(d18:1/24:1). We show that lipoprotein lipase (LPL) may more efficiently hydrolyze medium length triacylglycerides (TAGs) than others. Polyunsaturated lipids have highest heritability and genetic correlations, suggesting considerable genetic regulation at fatty acids levels. We find low genetic correlations between traditional lipids and lipid species. Our results show that lipidomic profiles capture information beyond traditional lipids and identify genetic variants modifying lipid levels and risk of CVD

    Evidence of a causal effect of genetic tendency to gain muscle mass on uterine leiomyomata

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    Genetic architecture of human plasma lipidome and its link to cardiovascular disease

    No full text
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