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Integrative data semantics through a model-enabled data stewardship

MOTIVATION: The importance of clinical data in understanding the pathophysiology of complex disorders has prompted the launch of multiple initiatives designed to generate patient-level data from various modalities. While these studies can reveal important findings relevant to the disease, each study...

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Autores principales: Wegner, Philipp, Schaaf, Sebastian, Uebachs, Mischa, Domingo-Fernández, Daniel, Salimi, Yasamin, Gebel, Stephan, Sargsyan, Astghik, Birkenbihl, Colin, Springstubbe, Stephan, Klockgether, Thomas, Fluck, Juliane, Hofmann-Apitius, Martin, Kodamullil, Alpha Tom
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9344835/
https://www.ncbi.nlm.nih.gov/pubmed/35652780
http://dx.doi.org/10.1093/bioinformatics/btac375
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author Wegner, Philipp
Schaaf, Sebastian
Uebachs, Mischa
Domingo-Fernández, Daniel
Salimi, Yasamin
Gebel, Stephan
Sargsyan, Astghik
Birkenbihl, Colin
Springstubbe, Stephan
Klockgether, Thomas
Fluck, Juliane
Hofmann-Apitius, Martin
Kodamullil, Alpha Tom
author_facet Wegner, Philipp
Schaaf, Sebastian
Uebachs, Mischa
Domingo-Fernández, Daniel
Salimi, Yasamin
Gebel, Stephan
Sargsyan, Astghik
Birkenbihl, Colin
Springstubbe, Stephan
Klockgether, Thomas
Fluck, Juliane
Hofmann-Apitius, Martin
Kodamullil, Alpha Tom
author_sort Wegner, Philipp
collection PubMed
description MOTIVATION: The importance of clinical data in understanding the pathophysiology of complex disorders has prompted the launch of multiple initiatives designed to generate patient-level data from various modalities. While these studies can reveal important findings relevant to the disease, each study captures different yet complementary aspects and modalities which, when combined, generate a more comprehensive picture of disease etiology. However, achieving this requires a global integration of data across studies, which proves to be challenging given the lack of interoperability of cohort datasets. RESULTS: Here, we present the Data Steward Tool (DST), an application that allows for semi-automatic semantic integration of clinical data into ontologies and global data models and data standards. We demonstrate the applicability of the tool in the field of dementia research by establishing a Clinical Data Model (CDM) in this domain. The CDM currently consists of 277 common variables covering demographics (e.g. age and gender), diagnostics, neuropsychological tests and biomarker measurements. The DST combined with this disease-specific data model shows how interoperability between multiple, heterogeneous dementia datasets can be achieved. AVAILABILITY AND IMPLEMENTATION: The DST source code and Docker images are respectively available at https://github.com/SCAI-BIO/data-steward and https://hub.docker.com/r/phwegner/data-steward. Furthermore, the DST is hosted at https://data-steward.bio.scai.fraunhofer.de/data-steward. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.
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spelling pubmed-93448352022-08-03 Integrative data semantics through a model-enabled data stewardship Wegner, Philipp Schaaf, Sebastian Uebachs, Mischa Domingo-Fernández, Daniel Salimi, Yasamin Gebel, Stephan Sargsyan, Astghik Birkenbihl, Colin Springstubbe, Stephan Klockgether, Thomas Fluck, Juliane Hofmann-Apitius, Martin Kodamullil, Alpha Tom Bioinformatics Applications Notes MOTIVATION: The importance of clinical data in understanding the pathophysiology of complex disorders has prompted the launch of multiple initiatives designed to generate patient-level data from various modalities. While these studies can reveal important findings relevant to the disease, each study captures different yet complementary aspects and modalities which, when combined, generate a more comprehensive picture of disease etiology. However, achieving this requires a global integration of data across studies, which proves to be challenging given the lack of interoperability of cohort datasets. RESULTS: Here, we present the Data Steward Tool (DST), an application that allows for semi-automatic semantic integration of clinical data into ontologies and global data models and data standards. We demonstrate the applicability of the tool in the field of dementia research by establishing a Clinical Data Model (CDM) in this domain. The CDM currently consists of 277 common variables covering demographics (e.g. age and gender), diagnostics, neuropsychological tests and biomarker measurements. The DST combined with this disease-specific data model shows how interoperability between multiple, heterogeneous dementia datasets can be achieved. AVAILABILITY AND IMPLEMENTATION: The DST source code and Docker images are respectively available at https://github.com/SCAI-BIO/data-steward and https://hub.docker.com/r/phwegner/data-steward. Furthermore, the DST is hosted at https://data-steward.bio.scai.fraunhofer.de/data-steward. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online. Oxford University Press 2022-06-02 /pmc/articles/PMC9344835/ /pubmed/35652780 http://dx.doi.org/10.1093/bioinformatics/btac375 Text en © The Author(s) 2022. Published by Oxford University Press. https://creativecommons.org/licenses/by/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Applications Notes
Wegner, Philipp
Schaaf, Sebastian
Uebachs, Mischa
Domingo-Fernández, Daniel
Salimi, Yasamin
Gebel, Stephan
Sargsyan, Astghik
Birkenbihl, Colin
Springstubbe, Stephan
Klockgether, Thomas
Fluck, Juliane
Hofmann-Apitius, Martin
Kodamullil, Alpha Tom
Integrative data semantics through a model-enabled data stewardship
title Integrative data semantics through a model-enabled data stewardship
title_full Integrative data semantics through a model-enabled data stewardship
title_fullStr Integrative data semantics through a model-enabled data stewardship
title_full_unstemmed Integrative data semantics through a model-enabled data stewardship
title_short Integrative data semantics through a model-enabled data stewardship
title_sort integrative data semantics through a model-enabled data stewardship
topic Applications Notes
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9344835/
https://www.ncbi.nlm.nih.gov/pubmed/35652780
http://dx.doi.org/10.1093/bioinformatics/btac375
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