A Systematic Approach to Diagnostic Laboratory Software Requirements Analysis.

Genetics plays an ever-increasing role in medical diagnostics. The requirements for laboratory diagnostics are constantly changing due to new emerging diagnostic procedures, methodologies, devices, and regulatory requirements. Standard software already available for laboratories often cannot keep up with the latest developments or is focused on research rather than process automation. Although the software utilized in diagnostic laboratories is subject to regulatory requirements, there is no well-defined formal procedure for software development. Reference models have been developed to formalize these solutions, but they do not facilitate the initial requirements analysis or the development process itself. A systematic requirements engineering process is however not only essential to ensure the quality of the final product but is also required by regulations such as the European In Vitro Diagnostic Regulation and international standards such as IEC 62304. This paper shows, by example, the systematic requirements analysis of a system for qPCR-based (quantitative polymerase chain reaction) gene expression analysis. Towards this goal, a multi-step research approach was employed, which included literature review, user interviews, and market analysis. Results revealed the complexity of the field with many requirements to be considered for future implementation.

Explainable Multimedia Feature Fusion for Medical Applications.

Due to the exponential growth of medical information in the form of, e.g., text, images, Electrocardiograms (ECGs), X-rays, and multimedia, the management of a patient's data has become a huge challenge. In particular, the extraction of features from various different formats and their representation in a homogeneous way are areas of interest in medical applications. Multimedia Information Retrieval (MMIR) frameworks, like the Generic Multimedia Analysis Framework (GMAF), can contribute to solving this problem, when adapted to special requirements and modalities of medical applications. In this paper, we demonstrate how typical multimedia processing techniques can be extended and adapted to medical applications and how these applications benefit from employing a Multimedia Feature Graph (MMFG) and specialized, efficient indexing structures in the form of Graph Codes. These Graph Codes are transformed to feature relevant Graph Codes by employing a modified Term Frequency Inverse Document Frequency (TFIDF) algorithm, which further supports value ranges and Boolean operations required in the medical context. On this basis, various metrics for the calculation of similarity, recommendations, and automated inferencing and reasoning can be applied supporting the field of diagnostics. Finally, the presentation of these new facilities in the form of explainability is introduced and demonstrated. Thus, in this paper, we show how Graph Codes contribute new querying options for diagnosis and how Explainable Graph Codes can help to readily understand medical multimedia formats.

Integrated metagenomic analysis of the rumen microbiome of cattle reveals key biological mechanisms associated with methane traits.

Methane is one of the major contributors to global warming. The rumen microbiota is directly involved in methane production in cattle. The link between variation in rumen microbial communities and host genetics has important applications and implications in bioscience. Having the potential to reveal the full extent of microbial gene diversity and complex microbial interactions, integrated metagenomics and network analysis holds great promise in this endeavour. This study investigates the rumen microbial community in cattle through the integration of metagenomic and network-based approaches. Based on the relative abundance of 1570 microbial genes identified in a metagenomics analysis, the co-abundance network was constructed and functional modules of microbial genes were identified. One of the main contributions is to develop a random matrix theory-based approach to automatically determining the correlation threshold used to construct the co-abundance network. The resulting network, consisting of 549 microbial genes and 3349 connections, exhibits a clear modular structure with certain trait-specific genes highly over-represented in modules. More specifically, all the 20 genes previously identified to be associated with methane emissions are found in a module (hypergeometric test, p<10-11). One third of genes are involved in methane metabolism pathways. The further examination of abundance profiles across 8 samples of genes highlights that the revealed pattern of metagenomics abundance has a strong association with methane emissions. Furthermore, the module is significantly enriched with microbial genes encoding enzymes that are directly involved in methanogenesis (hypergeometric test, p<10-9).