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Waltemath, D.

Publications and source records attributed to Waltemath, D..

5 recordsLinked to original sources

FAIRification of computational models in biology

Computational models are essential for studying complex systems which, particularly in clinical settings, need to be quality-approved and transparent. To enhance the communication of a models features and capabilities, we propose an adaptation of the Findability, Accessibility, Interoperability and Reusability (FAIR) indicators published by the Research Data Alliance to assess models encoded in domain-specific standards, such as those established by COMBINE. The assessments guide FAIRification and add value to models.

systems biology↗

FAIR assessment of MINERVA as an opportunity to foster open science and scientific crowdsourcing in systems biomedicine

1The Disease Maps Project (https://disease-maps.org) focuses on the development of diseasespecific comprehensive structured knowledge repositories supporting translational medicine research. These disease maps require continuous interdisciplinary collaboration and should be reusable and interoperable. Adhering to the Findable, Accessible, Interoperable and Reusable (FAIR) principles enhances the utility of such digital assets. We used the RDA FAIR Data Maturity Model and assessed the FAIRness of the Molecular Interaction NEtwoRk VisuAlization (MINERVA) Platform. MINERVA is a standalone webserver that allows users to manage, explore and analyse disease maps and their related data manually or programmatically. We exemplify the FAIR assessment on the Parkinsons Disease Map (PD map) and the COVID-19 Disease Map, which are large-scale projects under the umbrella of the Disease Maps Project, aiming to investigate molecular mechanisms of the Parkinsons disease and SARS-CoV-2 infection, respectively. We discuss the FAIR features supported by the MINERVA Platform and we outline steps to further improve the MINERVA FAIRness and to better connect this resource to other ongoing scientific initiatives supporting FAIR in computational systems biomedicine.

systems biology↗

SBGN Bricks Ontology as a tool to describe recurring concepts in molecular networks

A comprehensible representation of a molecular network is key to communicating and understanding scientific results in systems biology. The Systems Biology Graphical Notation (SBGN) has emerged as the main standard to represent such networks graphically. It has been implemented by different software tools, and is now largely used to communicate maps in scientific publications. However, learning the standard, and using it to build large maps, can be tedious. Moreover, SBGN maps are not grounded on a formal semantic layer and therefore do not enable formal analysis. Here, we introduce a new set of patterns representing recurring concepts encountered in molecular networks, called SBGN bricks. The bricks are structured in a new ontology, the BricKs Ontology (BKO), to define clear semantics for each of the biological concepts they represent. We show the usefulness of the bricks and BKO for both the template-based construction and the semantic annotation of molecular networks. The SBGN bricks and BKO can be freely explored and downloaded at sbgnbricks.org.

systems biology↗

Inference and validation of an integrated regulatory network of autism

Autism is a complex neurodevelopmental disorder. Functional roles of several non-coding transcripts including long noncoding RNAs (lncRNAs) have been shown to influence the pathobiology of autism. We hypothesized that there are more autism-associated lncRNAs to be discovered. Here, we utilized a systems biology approach to identify novel lncRNAs that might play a role in the molecular pathogenesis of autism. Based on the data provided by the Simons Foundation Autism Research Initiative (SFARI), a three-component regulatory network comprising mRNAs, microRNAs (miRNAs) and lncRNAs was constructed. Functional enrichment analysis was performed to identify molecular pathways potentially mediated by components of the network. The potential association of four candidate lncRNAs with autism was investigated experimentally by developing and verifying a valproic acid (VPA)-exposed mouse model of autism. We composed a network of 33 mRNA, 25 miRNA and 4 lncRNA nodes associated with neurologically-relevant pathways and functions. We then verified the differential expression of four candidate lncRNAs: Gm10033, 1500011B03Rik, A930005H10Rik and Gas5 in the brain of VPA-exposed mice. We furthermore identified a novel splice variant of Gm10033, designated as Gm10033-{Delta}Ex2, which was expressed in various mouse tissues. The integrative approach, we utilized, combines the analysis of a three-component regulatory network with experimental validation of targets in an animal model of autism. As a result of the analysis, we prioritized a set of candidate autism-associated lncRNAs. These links add to the common understanding of the molecular and cellular mechanisms that are involved in disease etiology, specifically in the autism.

systems biology↗

Harmonizing semantic annotations for computational models in biology

Life science researchers use computational models to articulate and test hypotheses about the behavior of biological systems. Semantic annotation is a critical component for enhancing the interoperability and reusability of such models as well as for the integration of the data needed for model parameterization and validation. Encoded as machine-readable links to knowledge resource terms, semantic annotations describe the computational or biological meaning of what models and data represent. These annotations help researchers find and repurpose models, accelerate model composition, and enable knowledge integration across model repositories and experimental data stores. However, realizing the potential benefits of semantic annotation requires the development of model annotation standards that adhere to a community-based annotation protocol. Without such standards, tool developers must account for a variety of annotation formats and approaches, a situation that can become prohibitively cumbersome and which can defeat the purpose of linking model elements to controlled knowledge resource terms. Currently, no consensus protocol for semantic annotation exists among the larger biological modeling community. Here, we report on the landscape of current semantic annotation practices among the COmputational Modeling in BIology NEtwork (COMBINE) community and provide a set of recommendations for building a consensus approach to semantic annotation.

scientific communication and education↗