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Updated: Feb 2, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Bioinformatics methodologies for coeliac disease and its comorbidities.
Eugenio Del Prete1,2,3, Angelo Facchiano2, Pietro Liò3
1Department of Sciences, University of Basilicata, Via dell'Ateneo Lucano, Potenza, Italy.
This study introduces a bioinformatics pipeline to analyze coeliac disease (CD) and its comorbidities. It identifies shared genes and pathways, aiding researchers in understanding disease connections.
Area of Science:
- Bioinformatics
- Genomics
- Immunology
Background:
- Coeliac disease (CD) is a multifactorial condition influenced by nutrition, immunity, and genetics.
- Numerous autoimmune diseases are known comorbidities of CD, suggesting complex interrelationships.
Purpose of the Study:
- To develop and apply an integrated bioinformatics pipeline for analyzing gene expression data in CD and its comorbidities.
- To evaluate the interconnections among CD and associated pathologies using computational approaches.
Main Methods:
- Surveyed public gene expression data for CD and comorbidities.
- Developed an R-language pipeline integrating gene expression, cell-type data, and literature-based comorbidities.
- Utilized gene set enrichment analysis and semantic similarity for data integration and analysis.
Main Results:
- Identified common differentially expressed genes, Gene Ontology terms, and pathways between CD and its comorbidities.
- Quantified the closeness of selected pathologies using Disease Ontology terms.
- The R pipeline is publicly available for further research.
Conclusions:
- The developed bioinformatics pipeline offers a comprehensive approach to analyze CD and its comorbidities.
- Findings highlight shared molecular mechanisms and disease relationships, valuable for clinicians and researchers.
- Facilitates detailed pathology analysis, comparison with comorbidities, and exploration of other diseases.
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