Data and its challenges on the path to end-to-end digitization in public administration - Contributions from three projects of the openDVA working group

The implementation of the right to digital access (OZG) in Germany stops at the office door focusing only on the needs of citizens. It does not cover any internal administrative processes and leaves out various stakeholders. For true end-to-end digitization, we need detailed, interoperable descriptions that can be exploited by all interested parties, including small to medium enterprises, decision-makers on all levels, individual administrative staff members, and future citizen developers. They all need a big picture and details on legal regulations, existing standards, and specific requirements. We aim to create such a knowledge base and demonstrate this using a first end-to-end digitized public service. Analyzing structured and unstructured data, for example, in the form of the text of a law addressing a public service, we derive a formal definition of the underlying process and necessary decisions. We enhance this with semantic annotation and link it to available standards. This forms the basis for innovative, new services like a platform for citizen developers to easily create and change fully digitized public services or educational modules that are automatically kept in sync with current developments

The Human Phenotype Ontology in 2024: phenotypes around the world.

The Human Phenotype Ontology (HPO) is a widely used resource that comprehensively organizes and defines the phenotypic features of human disease, enabling computational inference and supporting genomic and phenotypic analyses through semantic similarity and machine learning algorithms. The HPO has widespread applications in clinical diagnostics and translational research, including genomic diagnostics, gene-disease discovery, and cohort analytics. In recent years, groups around the world have developed translations of the HPO from English to other languages, and the HPO browser has been internationalized, allowing users to view HPO term labels and in many cases synonyms and definitions in ten languages in addition to English. Since our last report, a total of 2239 new HPO terms and 49235 new HPO annotations were developed, many in collaboration with external groups in the fields of psychiatry, arthrogryposis, immunology and cardiology. The Medical Action Ontology (MAxO) is a new effort to model treatments and other measures taken for clinical management. Finally, the HPO consortium is contributing to efforts to integrate the HPO and the GA4GH Phenopacket Schema into electronic health records (EHRs) with the goal of more standardized and computable integration of rare disease data in EHRs