Discriminating the causative disease variant(s) for individuals with inherited or de novo mutations presents one of the main challenges faced by the clinical genetics community today. Computational approaches for variant prioritization include machine learning methods utilizing a large number of features, including molecular information, interaction networks, or phenotypes. Here, we demonstrate the PhenomeNET Variant Predictor (PVP) system that exploits semantic technologies and automated reasoning over genotype-phenotype relations to filter and prioritize variants in whole exome and whole genome sequencing datasets. We demonstrate the performance of PVP in identifying causative variants on a large number of synthetic whole exome and whole genome sequences, covering a wide range of diseases and syndromes. In a retrospective study, we further illustrate the application of PVP for the interpretation of whole exome sequencing data in patients suffering from congenital hypothyroidism. We find that PVP accurately identifies causative variants in whole exome and whole genome sequencing datasets and provides a powerful resource for the discovery of causal variants.

We present an approach to content control where parents and children collaboratively configure restrictions and filters, an approach that focuses on education rather than simple rule setting. We conducted an initial exploratory qualitative study with results highlighting the importance that parents place on avoiding inappropriate content. Building on these findings, we designed an initial prototype which allows parents and children to work together to select appropriate applications, providing an opportunity for parents to educate their children on what is appropriate. A second qualitative study with parents and children in the six to eight year-old age group revealed a favorable response to this approach. Our results suggest that parents felt that this approach helped facilitate discussions with their children and made the education more enjoyable and approachable, and that children may have also learned from the interaction. In addition, the approach provided some parents with insights into their children's interests and understanding of their notions of appropriate and inappropriate content.

Remote control robots are being found in an increasing number of application domains, including search and rescue, exploration, and reconnaissance. There is a large body of HRI research that investigates interface design for remote navigation, control, and sensor monitoring, while aiming for interface enhancements that benefit the remote operator such as improving ease of use, reducing operator mental load, and maximizing awareness of a robot's state and remote environment. Even though many remote control robots have multi-degree-of-freedom robotic manipulator arms for interacting with the environment, there is only limited research into easy-to-use remote control interfaces for such manipulators, and many commercial robotic products are still using simplistic interface technologies such as keypads or gamepads with arbitrary mappings to arm morphology. In this paper, we present an original interface for the remote control of a multi-degree of freedom robotic arm. We conducted a controlled experiment to compare our interface to an existing commercial keypad interface and detail our results that indicate our interface was easier to use, required less cognitive task load, and enabled people to complete tasks more quickly. In this paper, we present an original interface for the remote control of a multi-degree of freedom robotic arm. We conducted a controlled experiment to compare our interface to an existing commercial keypad interface and detail our results that indicate our interface was easier to use, required less cognitive task load, and enabled people to complete tasks more quickly.