Towards Structured Data Quality Assessment in the German Medical Informatics Initiative: Initial Approach in the MII Demonstrator Study.

The Demonstrator study aims to analyse comorbidities and rare diseases among patients from German university hospitals within the German Medical Informatics Initiative. This work aimed to design and determine the feasibility of a model to assess the quality of the claims data used in the study. Several data quality issues were identified affecting small amounts of cases in one of the participating sites. As a next step an extension to all participating sites is planned.

Provenance Solutions for Medical Research in Heterogeneous IT-Infrastructure: An Implementation Roadmap.

Research data generated in large projects raise challenges about not only data analytics but also data quality assessments and data governance. The provenance of a data set - that is the history of data sets - holds information relevant to technicians and non-technicians and is able to answer questions regarding data quality, transparency, and more. We propose an implementation roadmap to extract, store, and utilize provenance records in order to make provenance available to data analysts, research subjects, privacy officers, and machines (machine readability). Each aspect is tackled separately, resulting in the implementation of a provenance toolbox. We aim to do so within the context of HiGHmed, a research consortium established within the medical informatics initiative in Germany. In this testbed of federated IT-infrastructures, the toolbox shall assist each stakeholder in answering domain-specific and domain-agnostic questions regarding the provenance of data sets. This way, we will improve data re-use, transparency, and reproducibility.

Enabling Pedigree Visualization and Analysis in tranSMART.

This paper examines the relevance of genetic pedigree data in the context of medical research platforms. By surveying currently available tools for visualization and analysis of this data type and by considering possible use cases that could make usage of the combination of singular patient data and pedigree data, the advantages of integrating the data type into a medical research platform were shown. In a practical work step, an integration procedure of pedigree data into tranSMART was created. Furthermore, a tool to analyze and visualize pedigree data in combination with other patient data was implemented into SmartR, a dynamic analysis tool inside of tranSMART. Finally, we address limitations and future development strategies of the tool.