The genetics of cortical organisation and development: A study of 2,347 neuroimaging phenotypes

Our understanding of the genetic architecture of the human cerebral cortex is limited both in terms of the diversity of brain structural phenotypes and the anatomical granularity of their associations with genetic variants. Here, we conducted genome-wide association meta-analysis of 13 structural and diffusion magnetic resonance imaging derived cortical phenotypes, measured globally and at 180 bilaterally averaged regions in 36,843 individuals from the UK Biobank and the ABCD cohorts. These phenotypes include cortical thickness, surface area, grey matter volume, and measures of folding, neurite density, and water diffusion. We identified 4,349 experiment-wide significant loci associated with global and regional phenotypes. Multiple lines of analyses identified four genetic latent structures and causal relationships between surface area and some measures of cortical folding. These latent structures partly relate to different underlying gene expression trajectories during development and are enriched for different cell types. We also identified differential enrichment for neurodevelopmental and constrained genes and demonstrate that common genetic variants associated with surface area and volume specifically are associated with cephalic disorders. Finally, we identified complex inter-phenotype and inter-regional genetic relationships among the 13 phenotypes which reflect developmental differences among them. These analyses help refine the role of common genetic variants in human cortical development and organisation

Equal opportunities: Do shareable interfaces promote more group participation than single users displays?

Computers designed for single use are often appropriated suboptimally when used by small colocated groups working together. Our research investigates whether shareable interfaces–that are designed for more than one user to inter-act with–can facilitate more equitable participation in colocated group settings compared with single user displays. We present a conceptual framework that characterizes Shared Information Spaces (SISs) in terms of how they constrain and invite participation using different entry points. An experiment was conducted that compared three different SISs: a physical-digital set-up (least constrained), a multitouch tabletop (medium), and a laptop display (most constrained). Statistical analyses showed there to be little difference in participation levels between the three conditions other than a predictable lack of equity of control over the interface in the laptop condition. However, detailed qualitative analyses revealed more equitable participation took place in the physical-digital condition in terms of verbal utterances over time. Those who spoke the least contributed most to the physical design task. The findings are discussed in relation to the conceptual framework and, more generally, in terms of how to select, design, and combine different display technologies to support collaborative activities

Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders

Autism spectrum disorder (ASD) risk is influenced by common polygenic and de novo variation. We aimed to clarify the influence of polygenic risk for ASD and to identify subgroups of ASD cases, including those with strongly acting de novo variants, in which polygenic risk is relevant. Using a novel approach called the polygenic transmission disequilibrium test and data from 6,454 families with a child with ASD, we show that polygenic risk for ASD, schizophrenia, and greater educational attainment is over-transmitted to children with ASD. These findings hold independent of proband IQ. We find that polygenic variation contributes additively to risk in ASD cases who carry a strongly acting de novo variant. Lastly, we show that elements of polygenic risk are independent and differ in their relationship with phenotype. These results confirm that the genetic influences on ASD are additive and suggest that they create risk through at least partially distinct etiologic pathways

Soil corrosion of the AISI1020 steel buried near electrical power transmission line towers

Soil corrosion of carbon steel samples buried up to hundred days close to a high voltage power transmission line tower was examined by weight loss vs. time. A higher weight loss was observed if the samples were electrically connected to the tower than if they were not. This was attributed to the influence of alternating current (AC) signals induced in the soil by the transmission line. This field study showed for the first time the influence of the AC power line on the buried structure of the tower, while other studies so far were focused only on AC corrosion of cathodically protected coated pipelines, running parallel to the transmission line. An improved method was used to measure weight loss by descaling in Clark solution. The new method substitutes discontinuous measurements, proposed in the ASTM-G1-90 standard, by in situ measurements of the weight loss during descaling, using a computer controlled microbalance

The Polygenic and Monogenic Basis of Blood Traits and Diseases

Blood cells play essential roles in human health, underpinning physiological processes such as immunity, oxygen transport, and clotting, which when perturbed cause a significant global health burden. Here we integrate data from UK Biobank and a large-scale international collaborative effort, including data for 563,085 European ancestry participants, and discover 5,106 new genetic variants independently associated with 29 blood cell phenotypes covering a range of variation impacting hematopoiesis. We holistically characterize the genetic architecture of hematopoiesis, assess the relevance of the omnigenic model to blood cell phenotypes, delineate relevant hematopoietic cell states influenced by regulatory genetic variants and gene networks, identify novel splice-altering variants mediating the associations, and assess the polygenic prediction potential for blood traits and clinical disorders at the interface of complex and Mendelian genetics. These results show the power of large-scale blood cell trait GWAS to interrogate clinically meaningful variants across a wide allelic spectrum of human variation. Analysis of blood cell traits in the UK Biobank and other cohorts illuminates the full genetic architecture of hematopoietic phenotypes, with evidence supporting the omnigenic model for complex traits and linking polygenic burden with monogenic blood diseases

The Polygenic and Monogenic Basis of Blood Traits and Diseases

Blood cells play essential roles in human health, underpinning physiological processes such as immunity, oxygen transport, and clotting, which when perturbed cause a significant global health burden. Here we integrate data from UK Biobank and a large-scale international collaborative effort, including data for 563,085 European ancestry participants, and discover 5,106 new genetic variants independently associated with 29 blood cell phenotypes covering a range of variation impacting hematopoiesis. We holistically characterize the genetic architecture of hematopoiesis, assess the relevance of the omnigenic model to blood cell phenotypes, delineate relevant hematopoietic cell states influenced by regulatory genetic variants and gene networks, identify novel splice-altering variants mediating the associations, and assess the polygenic prediction potential for blood traits and clinical disorders at the interface of complex and Mendelian genetics. These results show the power of large-scale blood cell trait GWAS to interrogate clinically meaningful variants across a wide allelic spectrum of human variation.</p

Vulture

Word-gesture keyboards enable fast text entry by letting users draw the shape of a word on the input surface. Such keyboards have been used extensively for touch devices, but not in mid-air, even though their fluent gestural input seems well suited for this modality. We present Vulture, a word-gesture keyboard for mid-air operation. Vulture adapts touch based word-gesture algorithms to work in mid-air, projects users ’ movement onto the display, and uses pinch as a word delimiter. A first 10-session study suggests text-entry rates of 20.6 Words Per Minute (WPM) and finds hand-movement speed to be the primary predictor of WPM. A second study shows that with training on a few phrases, participants do 28.1 WPM, 59 % of the text-entry rate of direct touch input. Participants ’ recall of trained gestures in mid-air was low, suggesting that visual feedback is important but also limits performance. Based on data from the studies, we discuss improvements to Vulture and some alternative designs for mid-air text entry. Author Keywords Word-gesture keyboard; shape writing; text entry; mid-air interaction; in-air interaction; freehand interaction. ACM Classification Keywords I.3.6 Methodology and Techniques: Interaction technique