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Updated: Feb 5, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Insights into respiratory disease through bioinformatics
Bhavna Hurgobin1, Emma de Jong1, Anthony Bosco1
1Telethon Kids Institute, The University of Western Australia, Perth, WA, Australia.
Bioinformatics and genomic data analysis are crucial for understanding respiratory diseases like asthma and lung cancer. These advanced tools help integrate multi-omic data for personalized medicine and targeted therapies.
Area of Science:
- Medical research
- Bioinformatics
- Genomic data analysis
Background:
- Respiratory diseases, including asthma, COPD, and lung cancer, affect millions globally.
- New treatment/prevention strategies and biomarkers are essential for reducing disease impact.
- Understanding underlying biology is key for translating research into clinical practice.
Purpose of the Study:
- To review bioinformatics and genomic data analysis concepts.
- To illustrate their application in understanding lung diseases.
- To highlight multi-omic data integration and computational drug repurposing for personalized medicine.
Main Methods:
- Utilizing next-generation sequencing and mass spectrometry for multi-omic data generation.
- Applying sophisticated bioinformatics and statistical tools for data analysis.
- Integrating multi-omic profiles (genome, epigenome, transcriptome, proteome, metabolome, microbiome).
Main Results:
- Bioinformatics and genomic analysis provide unprecedented insights into lung disease biology.
- Data integration of multi-omic profiles aids in defining disease subphenotypes.
- Computational drug repurposing facilitates matching subphenotypes to targeted therapies.
Conclusions:
- Advanced bioinformatics and data analysis are vital for advancing lung disease research.
- Multi-omic data integration and computational drug repurposing pave the way for personalized medicine in respiratory diseases.
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