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Updated: Jun 12, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Bioinformatics: Tools to accelerate population science and disease control research
Michele R Forman1, Sarah M Greene, Nancy E Avis
1M. D. Anderson Cancer Center, Houston, Texas 77230-1439, USA. mforman@mdanderson.org
Bioinformatics tools transform complex life sciences data for public health research. Applying these informatics systems accelerates population health studies from prevention to outcomes.
Area of Science:
- Population health
- Bioinformatics
- Disease control
Background:
- Bioinformatics integrates information sciences and technologies to manage complex life sciences data.
- It enables data collection, processing, standardization, and harmonization for scientific discovery.
- Interoperable informatics systems are crucial for accessing and utilizing data from diverse sources.
Purpose of the Study:
- To describe how bioinformatics systems accelerate population health research.
- To highlight the application of bioinformatics across the continuum of care: prevention, detection, diagnosis, treatment, and outcomes.
Main Methods:
- Utilizing bioinformatics principles and tools to process and integrate diverse life sciences data.
- Leveraging interoperable systems like the National Cancer Institute's (NCI's) Cancer Biomedical Informatics Grid (caBIG).
- Addressing challenges in data standardization, access, and pooling through innovative solutions.
Main Results:
- Bioinformatics facilitates the transformation of vast, diverse data into a coherent format for wider application.
- Interoperability enhances scientific exploration and creates opportunities for population health interventions.
- Illustrative tools are being actively used by population scientists in fields like cancer research.
Conclusions:
- The application of bioinformatics is essential for advancing population health research.
- Overcoming challenges like data standardization and access barriers is key to progress.
- Innovative solutions are being developed by population scientists and informaticians to enhance data utilization.
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