The aim of this study was to describe prerequisites for online collaboration for user participation in co-design of online digital services as perceived by people with impairments and to develop requirements for how online collaboration should be designed to be accessible for all participants. An exploratory study was conducted in parallel to activities in two co-design projects. Researchers, accessibility experts, designers and 31 members of disability organisations participated. All participants had lived experience of impairments. Data was co-analysed by all participants using a qualitative thematic analysis with an inductive approach. Sixty-three requirements for accessible online collaboration were identified pertaining to four themes: digital tools and accessibility; preparation of an online collaboration activity; performing and participating in an online collaboration activity; and documenting and evaluating an online collaboration activity. Conclusion: the co-design process can be strengthened by transition to online collaboration, owing to the possibility of having more frequent interaction, economising the participants’ energy and the design process being more transparent. Using accessible online tools, careful planning, and meeting preparation, and establishing a trustful and convivial atmosphere during each activity, are the cornerstones for accessible online collaboration. People with impairment can participate in online collaboration if the activities meet accessibility requirements.

Abstract Conversational agents are increasingly being introduced in healthcare to enhance access to healthcare and address limited healthcare resources. The aim of this study was to explore experiences of a conversational agent for symptom checking and triage tool assessing the urgency and appropriate level of care implemented in public healthcare from a cognitive accessibility perspective. With a Participatory Action Research approach, this study includes: (1) A Participatory Cognitive Barrier Walkthrough in workshops with people with cognitive impairment (n = 7), product owner representatives (n = 4), and researchers (n = 5), followed by a workshop for improvement suggestions; (2) a paired interview with healthcare system specialists (n = 2). The data from the study were analyzed using reflexive thematic analysis, resulting in five themes: ‘The design of the eHealth service created expectations that were not met during interaction’; ‘The eHealth service uses a difficult language’; ‘The eHealth service triggers negative emotions and reactions’; ‘The layout and graphic design of the eHealth service is difficult and sometimes misleading’; and ‘The eHealth service lacks in trustworthiness’. The findings show the importance of including people with lived experience of cognitive impairment, to expose and find solutions for cognitive accessibility issues.

BACKGROUND: Rare copy number variants (CNVs) significantly influence the human genome and may contribute to disease susceptibility. High-throughput SNP genotyping platforms provide data that can be used for CNV detection, but it requires the complex pipelining of bioinformatic tools. Here, we propose a flexible bioinformatic pipeline for rare CNV analysis from human SNP array data. RESULTS: The pipeline consists of two major sub-pipelines: (1) Calling and quality control (QC) analysis, and (2) Rare CNV analysis. It is implemented in Snakemake following a rule-based structure that enables automation and scalability while maintaining flexibility. CONCLUSIONS: Our pipeline automates the detection and analysis of rare CNVs. It implements a rigorous CNV quality control, assesses the frequencies of these rare CNVs in patients versus controls, and evaluates the impact of CNVs on specific genes or pathways. We hence aim to provide an efficient yet flexible bioinformatic framework to investigate rare CNVs in biomedical research.

MOTIVATION: Biological network analysis for high-throughput biomedical data interpretation relies heavily on topological characteristics. Networks are commonly composed of nodes representing genes or proteins that are connected by edges when interacting. In this study, we use the rich information available in the Reactome pathway database to build biological networks accounting for small molecules and proteoforms modeled using protein isoforms and post-translational modifications to study the topological changes induced by this refinement of the network representation. RESULTS: We find that improving the interactome modeling increases the number of nodes and interactions, but that isoform and post-translational modification annotation is still limited compared to what can be expected biologically. We also note that small molecule information can distort the topology of the network due to the high connectedness of these molecules, which does not necessarily represent the reality of biology. However, by restricting the connections of small molecules to the context of biochemical reactions, we find that these improve the overall connectedness of the network and reduce the prevalence of isolated components and nodes. Overall, changing the representation of the network alters the prevalence of articulation points and bridges globally but also within and across pathways. Hence, some molecules can gain or lose in biological importance depending on the level of detail of the representation of the biological system, which might in turn impact network-based studies of diseases or druggability. AVAILABILITY AND IMPLEMENTATION: Networks are constructed based on data publicly available in the Reactome Pathway knowledgebase: reactome.org.

MOTIVATION: Single nucleotide polymorphism (SNP) genotyping arrays remain an attractive platform for assaying copy number variants (CNVs) in large population-wide cohorts. However, current tools for calling CNVs are still prone to extensive false positive calls when applied to biobank scale arrays. Moreover, there is a lack of methods exploiting cohorts with trios available (e.g. nuclear family) to assist in quality control and downstream analyses following the calling. RESULTS: We developed SeeCiTe (Seeing CNVs in Trios), a novel CNV-quality control tool that postprocesses output from current CNV-calling tools exploiting child-parent trio data to classify calls in quality categories and provide a set of visualizations for each putative CNV call in the offspring. We apply it to the Norwegian Mother, Father and Child Cohort Study (MoBa) and show that SeeCiTe improves the specificity and sensitivity compared to the common empiric filtering strategies. To our knowledge, it is the first tool that utilizes probe-level CNV data in trios (and singletons) to systematically highlight potential artifacts and visualize signal intensities in a streamlined fashion suitable for biobank scale studies. AVAILABILITY AND IMPLEMENTATION: The software is implemented in R with the source code freely available at https://github.com/aksenia/SeeCiTe. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.

Persons with cognitive or mental disabilities have difficulties participating in or are excluded from IT development and assessments exercises due to the problems finding good ways to efficiently collaborate on equal terms. In this paper we describe how we worked closely together with persons that have mental and cognitive disabilities in order to test and develop methods for participation in assessments and in processes for developing, Information and Communication Technology (ICT) products and services. More than 100 persons with mental and cognitive disabilities participated in the study (people with diagnoses such as depression, anxiety disorder, bipolarity, and schizophrenia). To explore the conditions for a more equal and fair participation we have developed and elaborated a set of methods, tools and approaches. By combining scientific research methods with well-established methods for empowerment and participation we have developed methods that are cost effective and that easily can be incorporated in existing processes. We believe that our approach have taken steps to implement possibilities for persons with mental and cognitive disabilities to take part where user participation is needed in order not to discriminate or exclude but also to improve the overall quality of the end result. The results clearly show that it is possible to include persons with mental and cognitive disabilities. A mixed method -- mixed tool approach can increase the possibility for participation. The results also show that the quality of the analysis phase increases if the collaborative approach is extended to also embrace the data analysis phase.

Manipulating in the micro- or even nano world still poses a great challenge to robotics. Conventional (stationary) systems suffer from drawbacks regarding integration into process supervision and multi-robot approaches, which become highly relevant to fight scaling effects. This paper describes work currently being carried out which aims to make automated manipulation of micrometer-scaled objects possible by robots with nanometer precision. The goal is to establish a small cluster of (up to five) micro robots equipped with on-board electronics, sensors and wireless power supply. Power autonomy has been reached using inductive energy transmission from an external wireless power supply system or a battery based system. Electronics requirements are fulfilled in the electronic module with the full custom integrated circuit design for the robot locomotion control and the closed loop force control for AFM tool in cell manipulation applications. The maximum velocity obtained is about 0.4 mm/s with a saw tooth voltage signals of 20Vpp and 2500 Hz. In order to keep a AFM tool on micro-robot a specific tip with integrated piezoresistance, instead of the classical laser beam methodology, is validated for force measurement.

Today, the use of robots for self acting tasks in applications ranging from biology and medicine to microsystems technology demand miniaturized dimensions and high-precision handling techniques. Transport and manipulation of biological cells or assembly of micromechanical parts are the best-suited applications for microrobots with sizes about cm/sup 3/. The kind of actuator used for locomotion is a crucial part when a miniaturised robot for micropositioning and micromanipulating is developed. Demands on low cost, high resolution and small size make piezoceramic actuators an attractive alternative. A "Smart Piezoactuator Unit" (SPU) has been developed and will be used in a new generation of microrobots with a size of a few cm/sup 3/. The main characteristics of this "Smart Piezoactuator Unit" are presented in this paper. An integrated circuit containing power drivers and a digital control system with a fast serial interface protocol has been designed. Integrating this circuit close to the piezoceramic actuators results in a compact and a minimal number of connecting wires to the robot.