Article

Creating, curating and querying computer models of biological pathways for Inherited Metabolic Disorders

2023-05-25

Abstract excerpt

Collecting knowledge about Inherited Metabolic Disorders (IMDs) has the potential to support early diagnosis as well as foster research into treatment options. Biological pathway databases can be used to create an overview of relevant articles and books describing IMDs and collect, curate, and summarize knowledge about these disorders. Reuse of the information captured in these databases in research requires the k...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: cad38172-2da4-540c-a0f4-dc4c50f05711
DOI: 10.1101/2023.05.24.542073

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Creating, curating and querying computer models of biological pathways for Inherited Metabolic DisordersDOI 10.1101/2023.05.24.542073Read

Knowledge base and mini-expert platform for the diagnosis of inborn errors of metabolism.Semantic proximity Read

Extending Inherited Metabolic Disorder diagnostics with Biomarker Interaction VisualizationsSemantic proximity Read

Text-based phenotypic profiles incorporating biochemical phenotypes of inborn errors of metabolism improve phenomics-based diagnosis.Semantic proximity Read

Mapping the Landscape of Treatable Inborn Errors of Metabolism: A Systematic Gene-Level Evaluation Based on the ICIMD ClassificationSemantic proximity Read

RAMEDIS: a comprehensive information system for variations and corresponding phenotypes of rare metabolic diseases.Semantic proximity Read

MalaCards: an amalgamated human disease compendium with diverse clinical and genetic annotation and structured search.Semantic proximity Read

Disease and pathway maps for Rare DiseasesSemantic proximity Read

Community-driven roadmap for integrated disease maps.Semantic proximity Read

Literature-driven extraction and computational prediction of causal statements linking genetic variants to biological processes, pathways and phenotypes.Semantic proximity Read

MecCog: A knowledge representation framework for genetic disease mechanismSemantic proximity Read

Management and analysis of genomic functional and phenotypic controlled annotations to support biomedical investigation and practice.Semantic proximity Read

DisGeNET-RDF: harnessing the innovative power of the Semantic Web to explore the genetic basis of diseasesSemantic proximity Read