Christoph Beger

The aim of this investigation is to develop a methodology to model and express phenotype classes. These models can be used to generate queries to search for individuals (patients or study participants) with specific phenotypes.

Severe sepsis and septic shock have a high mortality. Research has concentrated on adjunctive sepsis therapies; the role of supportive measures is comparatively unclear. In Europe the use of colloids is widespread, but there is no evidence on the role of either crystalloid or colloid volume therapy in sepsis. Recently, a higher incidence of kidney failure in sepsis was reported after administration of colloids.

In this study we used the Core Ontology of Phenotypes as general phenotypic model to represent phenotype knowledge. The phenotypes are modelled in so called Phenotype Specification Ontologies.

We evaluated if the PhenoMan returns correct/complete result sets and if it is working with real data. To simulate a FHIR health data store with real data we used Synthea(TM) to generate a large data set and imported it into a HAPI FHIR JPA Server. Based on the synthetic data set we developed ten example queries with different structure and complexity with PhenoMan and SQL. We compared the results of the queries in means of execution time and equality of results.

The detailed steps of the evaluation ...

Baseline Data and Endpoints for HYPRESS

Example study for people with hypertension or obesity as inclusion criteria. This ontology uses the Core Ontology of Phenotypes as a general phenotypic model.

This assay bundles all synthetic FHIR data of the PhenoMan evaluation. The data arised from a subset of a Synthea(TM) generated data set. We truncated some resource types like Encounter and Provider to reduce the size of the data set and to speed up the import in a FHIR health data store.

Demographics, reference pathology diagnosis, Outcome (Event-free survival, Progression-free survival, Overall survival)

Adjunctive hydrocortisone (HC) therapy is suggested by the Surviving Sepsis Campaign in refractory septic shock only. The case for septic patients without shock remains controversial. We investigated the efficacy of HC in patients with severe sepsis without shock

Restricted Trial Data

Demographics, reference pathology diagnosis, Outcome (Event-free survival, Progression-free survival, Overall survival)

We performed gene-expression profiling using Affymetrix U133A GeneChips with RNA from 220 mature aggressive B-cell lymphomas, including a core group of 8 Burkitt's lymphomas that met all World Health Organization (WHO) criteria. A molecular signature for Burkitt's lymphoma was generated, and chromosomal abnormalities were detected with interphase fluorescence in situ hybridization and array-based comparative genomic hybridization.

Molecular profiling of cerebral gliomas distinguishes biologically distinct tumor groups and provides prognostically relevant information beyond histological classification and IDH1/2 mutation status. We performed microarray-based genome- and transcriptome-wide molecular profiling of primary tumor samples from 137 patients with cerebral gliomas, 61 WHO grade II and 76 WHO grade III tumors.

Molecular profiling of cerebral gliomas distinguishes biologically distinct tumor groups and provides prognostically relevant information beyond histological classification and IDH1/2 mutation status. We performed Methylation profiling of primary tumor samples from 122 patients with cerebral gliomas with WHO grade II and grade III tumors.

Based on the assumption that molecular mechanisms involved in cancerogenesis are characterized by groups of coordinately expressed genes, we developed and validated a novel method for analyzing transcriptional data called Correlated Gene Set Analysis (CGSA). Using 50 extracted gene sets we identified three different profiles of tumors in a cohort of 364 Diffuse large B-cell (DLBCL) and related mature aggressive B-cell lymphomas other than Burkitt lymphoma. The first profile had high level of ...

307 single cells cultured from three biopsies of three different patients with a BRAF/NRAS wild type, BRAF mutant/NRAS wild type and BRAF wild type/NRAS mutant melanoma metastasis, respectively

Molecular profiling of cerebral gliomas distinguishes biologically distinct tumor groups and provides prognostically relevant information beyond histological classification and IDH1/2 mutation status. We performed Methylation profiling of primary tumor samples from 122 patients with cerebral gliomas with WHO grade II and grade III tumors.

This data file contains FHIR bundles of observation resources, which were used for the evaluation of the PhenoMan. Originally the observation data were generated with Synthea(TM) and truncated to reduce overall size and import times into a HAPI FHIR JPA Server. Please import the patient resources prior to the observations.

This data file contains 8,026,380 observations.

This data file contains FHIR bundles of patient resources, which were used for the evaluation of the PhenoMan. Originally the patient data were generated with Synthea(TM) and truncated to reduce overall size and import times into a HAPI FHIR JPA Server.

This data file contains 66,018 patients.

The TOP Framework enables users to model phenotypes according to the Core Ontology of Phenotypes. It also includes a custom reasoning engine and query service for classification of individual data and searching in data repositories (e.g., Health Data Stores).

The platform is intended for visualization of expression- and mutation-driven changes in biological pathway activities in cancer datasets available in ICGC. The impact of somatic mutations on protein-protein interactions were calculated using Mechismo. Overall activity of biological pathway was evaluated using Pathway Signal Flow algorithm. The application provides interactive heatmaps for pathway output sink node activities and pathway images with mapped affected interactions and output node ...

The General Formal Ontology is a top-level ontology for conceptual modeling. It includes elaborations of categories like objects, processes, time and space, properties, relations, roles, functions, facts, and situations.

Motivation: By using the NLP4CR tool, medical facts (e.g. diagnoses, laboratory values) can be extracted from German medical full texts.

Description: The NLP4CR tool is a prototype that demonstrates the applicability of Apache UIMA and cTakes to medical full texts in German language.

Preprocessing Illumina HT12v4 gene expression data including quality filtering, data transformation and normalisation and batch-effect removal as well as visualisation

Core Ontology of Phenotypes. Contribute to Onto-Med/COP development by creating an account on GitHub.

This is a Drupal 8 Module to import nodes and taxonomies into Drupal, using the available API. The module is capable of importing a JSON or OWL file. Idea is to enable users to upload a file containing all information about nodes and their relations. The module will then import all contained information with the Drupal 8 API. Nodes can be specified as "articles" or any other custom node type. The node classification becomes one (or multiple) hierachical vocabulary. Supported import formats are ...

Summary of the current COVID-19 pandemic development in Leipzig and Saxony. This work was done as part of the NFDI4Health Task Force COVID-19 (nfdi4health.de). We gratefully acknowledge the financial support of the Deutsche Forschungsgemeinschaft (DFG, German Research Foundation) – Project Number 451265285.

Summary of the current COVID-19 pandemic development in Leipzig and Saxony. This work was done as part of the NFDI4Health Task Force COVID-19 (nfdi4health.de). We gratefully acknowledge the financial support of the Deutsche Forschungsgemeinschaft (DFG, German Research Foundation) – Project Number 451265285.

Summary of the current COVID-19 pandemic development in Leipzig and Saxony. This work was done as part of the NFDI4Health Task Force COVID-19 (nfdi4health.de). We gratefully acknowledge the financial support of the Deutsche Forschungsgemeinschaft (DFG, German Research Foundation) – Project Number 451265285.

Summary of the current COVID-19 pandemic development in Leipzig and Saxony. This work was done as part of the NFDI4Health Task Force COVID-19 (nfdi4health.de). We gratefully acknowledge the financial support of the Deutsche Forschungsgemeinschaft (DFG, German Research Foundation) – Project Number 451265285.

Summary of the current COVID-19 pandemic development in Leipzig and Saxony. This work was done as part of the NFDI4Health Task Force COVID-19 (nfdi4health.de). We gratefully acknowledge the financial support of the Deutsche Forschungsgemeinschaft (DFG, German Research Foundation) – Project Number 451265285.

Summary of the current COVID-19 pandemic development in Leipzig and Saxony. This work was done as part of the NFDI4Health Task Force COVID-19 (nfdi4health.de). We gratefully acknowledge the financial support of the Deutsche Forschungsgemeinschaft (DFG, German Research Foundation) – Project Number 451265285.

Summary of the current COVID-19 pandemic development in Leipzig and Saxony. This work was done as part of the NFDI4Health Task Force COVID-19 (nfdi4health.de). We gratefully acknowledge the financial support of the Deutsche Forschungsgemeinschaft (DFG, German Research Foundation) – Project Number 451265285.

Summary of the current COVID-19 pandemic development in Leipzig and Saxony. This work was done as part of the NFDI4Health Task Force COVID-19 (nfdi4health.de). We gratefully acknowledge the financial support of the Deutsche Forschungsgemeinschaft (DFG, German Research Foundation) – Project Number 451265285.

Summary of the current COVID-19 pandemic development in Leipzig and Saxony. This work was done as part of the NFDI4Health Task Force COVID-19 (nfdi4health.de). We gratefully acknowledge the financial support of the Deutsche Forschungsgemeinschaft (DFG, German Research Foundation) – Project Number 451265285.

Summary of the current COVID-19 pandemic development in Leipzig and Saxony. This work was done as part of the NFDI4Health Task Force COVID-19 (nfdi4health.de). We gratefully acknowledge the financial support of the Deutsche Forschungsgemeinschaft (DFG, German Research Foundation) – Project Number 451265285.

Presentation on JOWO/ODLS 2019 in Graz

Within the framework of the funding measure "i:DSem - Integrative Data Semantics in Systems Medicine", the Federal Ministry of Education and Research supports research projects that take up this approach. Interdisciplinary research projects are to create the basis so that in the future, for example, the attending physician will have application-oriented computer programmes at his or her disposal that will enable him or her to access all clinically relevant data. This should significantly support ...

In the German National Research Data Infrastructure (NFDI), valuable data from science and research are systematically accessed, networked and made usable in a sustainable and qualitative manner for the entire German science system. Up to now, they have mostly been available on a decentralised, project-related or temporary basis. The NFDI aims to create a permanent digital repository of knowledge as an indispensable prerequisite for new research questions, findings and innovations. Relevant data ...

The medical informatics initiative was created to close the gap between research and healthcare. All of Germany’s university hospitals have joined forces with research institutions, businesses, health insurers, and patient advocacy groups to create a framework that harnesses research findings to the direct benefit of patients. The German Federal Ministry of Education and Research (BMBF) is investing around 160 million euros in the programme through 2021. The digitisation of medicine is creating ...

The Joint Ontology WOrkshops (JOWO) is a venue of workshops that, together, address a wide spectrum of topics related to ontology research, ranging from Cognitive Science to Knowledge Representation, Natural Language Processing, Artificial Intelligence, Logic, Philosophy, and Linguistics.

The conference will focus on current contributions to research data management in Saxony. On the basis of practical reports and a poster session, it will be shown what research data management can achieve and what advantages it can offer. An advanced training course on data management planning will help to explore the possibilities and challenges of the FDM for oneself and for research projects. Finally, important aspects and questions will be discussed with each other and with experts at several ...