Multi-trait analysis characterizes the genetics of thyroid function and identifies causal associations with clinical implications

To date only a fraction of the genetic footprint of thyroid function has been clarified. We report a genome-wide association study meta-analysis of thyroid function in up to 271,040 individuals of European ancestry, including reference range thyrotropin (TSH), free thyroxine (FT4), free and total triiodothyronine (T3), proxies for metabolism (T3/FT4 ratio) as well as dichotomized high and low TSH levels. We revealed 259 independent significant associations for TSH (61% novel), 85 for FT4 (67% novel), and 62 novel signals for the T3 related traits. The loci explained 14.1%, 6.0%, 9.5% and 1.1% of the total variation in TSH, FT4, total T3 and free T3 concentrations, respectively. Genetic correlations indicate that TSH associated loci reflect the thyroid function determined by free T3, whereas the FT4 associations represent the thyroid hormone metabolism. Polygenic risk score and Mendelian randomization analyses showed the effects of genetically determined variation in thyroid function on various clinical outcomes, including cardiovascular risk factors and diseases, autoimmune diseases, and cancer. In conclusion, our results improve the understanding of thyroid hormone physiology and highlight the pleiotropic effects of thyroid function on various diseases

Using ontologies in design of multimodal user interfaces

In this paper we introduce an ontology-based approach to the design of multimodal user interfaces. The main benefit of our approach is the unified ontology of multimodal interaction, where we have integrated the knowledge and common concepts from different domains of multimodal interaction in a uniform way. The unified ontology of multimodal interaction can be viewed as a tool that a designer of user interfaces can use to see relations between his design and various human factors. Using this ontology we have explored novel design approaches in order to provide means for abstract definition of a human-computer interaction at different levels. We have also integrated the ontology with existing user interface platforms, what allows mapping of high-level concepts from the ontology to primitives in a user interface platform, and evaluation existing user interfaces in order to see what perceptual or cognitive effects they produce

Using ontologies in design of multimodal user interfaces

In this paper we introduce an ontology-based approach to the design of multimodal user interfaces. The main benefit of our approach is the unified ontology of multimodal interaction, where we have integrated the knowledge and common concepts from different domains of multimodal interaction in a uniform way. The unified ontology of multimodal interaction can be viewed as a tool that a designer of user interfaces can use to see relations between his design and various human factors. Using this ontology we have explored novel design approaches in order to provide means for abstract definition of a human-computer interaction at different levels. We have also integrated the ontology with existing user interface platforms, what allows mapping of high-level concepts from the ontology to primitives in a user interface platform, and evaluation existing user interfaces in order to see what perceptual or cognitive effects they produce