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Updated: Oct 10, 2025

Using Human Differentially Expressed Gene Lists to Perform Downstream Pathway Enrichment Analysis and Target Prioritization
Published on: October 3, 2025
Using Gene Ontology to Annotate and Prioritize Microarray Data
1Department of Medical and Surgical Sciences, University of Catanzaro, Catanzaro, Italy. m.milano@unicz.it.
Abstract:
The results of high-throughput experiments consist of numerous candidate genes, proteins, or other molecules potentially associated with diseases. A challenge for omics science is the knowledge extraction from the results and the filtering of promising gene or protein candidates. Especially, the hot topic in clinical scenarios consists of highlighting the behavior of few molecules related to some specific disease. In this contest, different computational approaches, also referred Gene prioritization methods, ensure to identify the most related genes to a disease among a larger set of candidate genes. The identification requires the use of domain-specific knowledge that is often encoded into ontologies.
Insights
Omics science faces challenges in filtering disease-associated genes from high-throughput data. Gene prioritization methods use ontologies to identify key molecules linked to specific diseases for clinical relevance.
Area of Science:
- Bioinformatics
- Computational Biology
- Genomics
Background:
- High-throughput experiments generate vast amounts of candidate disease-associated genes and proteins.
- Extracting meaningful knowledge and filtering promising candidates is a significant challenge in omics science.
- Identifying specific molecules crucial for particular diseases is a key focus in clinical research.
Purpose of the Study:
- To introduce and discuss computational approaches for gene prioritization.
- To highlight the role of domain-specific knowledge, particularly ontologies, in gene identification.
- To address the challenge of filtering relevant genes from large omics datasets for clinical applications.
Main Methods:
- Utilizing computational approaches, specifically gene prioritization methods.
- Leveraging domain-specific knowledge encoded in ontologies.
- Applying these methods to filter candidate genes from high-throughput experimental results.
Main Results:
- Gene prioritization methods effectively identify genes most relevant to a specific disease.
- The use of ontologies enhances the accuracy and specificity of gene identification.
- These computational strategies aid in filtering large datasets to pinpoint key molecular players.
Conclusions:
- Computational gene prioritization is essential for knowledge extraction in omics science.
- Ontology-driven approaches improve the identification of disease-related genes.
- This facilitates the focus on critical molecules for specific diseases in clinical settings.
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