Traditional digital tools for exploring historical data mostly rely on conventional 2D visualizations, which often cannot reveal all relevant interrelationships between historical fragments (e.g., persons or events). In this paper, we present a novel interactive exploration tool for historical data in VR, which represents fragments as spheres in a 3D environment and arranges them around the user based on their temporal, geo, categorical and semantic similarity. Quantitative and qualitative results from a user study with 29 participants revealed that most participants considered the virtual space and the abstract fragment representation well-suited to explore historical data and to discover complex interrelationships. These results were particularly underlined by high usability scores in terms of attractiveness, stimulation, and novelty, while researching historical facts with our system did not impose unexpectedly high task loads. Additionally, the insights from our post-study interviews provided valuable suggestions for future developments to further expand the possibilities of our system.

Genetic diseases are driven by aberrations of the human genome. Identification of such aberrations including structural variations (SVs) is key to our understanding. Conventional short-reads whole genome sequencing (cWGS) can identify SVs to base-pair resolution, but utilizes only short-range information and suffers from high false discovery rate (FDR). Linked-reads sequencing (10XWGS) utilizes long-range information by linkage of short-reads originating from the same large DNA molecule. This can mitigate alignment-based artefacts especially in repetitive regions and should enable better prediction of SVs. However, an unbiased evaluation of this technology is not available. In this study, we performed a comprehensive analysis of different types and sizes of SVs predicted by both the technologies and validated with an independent PCR based approach. The SVs commonly identified by both the technologies were highly specific, while validation rate dropped for uncommon events. A particularly high FDR was observed for SVs only found by 10XWGS. To improve FDR and sensitivity, statistical models for both the technologies were trained. Using our approach, we characterized SVs from the MCF7 cell line and a primary breast cancer tumor with high precision. This approach improves SV prediction and can therefore help in understanding the underlying genetics in various diseases.