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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Cardiovascular genomics: a biomarker identification pipeline
John H Phan1, Chang F Quo, May Dongmei Wang
1Department of Biomedical Engineering, Georgia Institute of Technology and Emory University, Atlanta, GA 30332, USA. jhphan@gatech.edu
This review outlines a genomic biomarker discovery pipeline for cardiovascular disease, detailing bioinformatics methods for identifying molecular targets. It covers data acquisition through validation, aiding research into heart disease origins.
Area of Science:
- Genomics and Bioinformatics
- Cardiovascular Disease Research
Background:
- Genomic biomarkers are crucial for elucidating the molecular underpinnings of cardiovascular disease (CVD).
- Understanding CVD at a molecular level requires robust methods for biomarker identification.
Purpose of the Study:
- To present a comprehensive biomarker identification pipeline for cardiovascular disease.
- To review current bioinformatics methods applicable to each stage of genomic biomarker discovery.
- To illustrate the pipeline using publicly available CVD genomics datasets.
Main Methods:
- High-throughput genomic data acquisition and preprocessing.
- Exploratory analysis, feature selection, and classification techniques.
- Interpretation and validation of candidate genomic biomarkers.
Main Results:
- The review details a multi-step pipeline from raw data to validated biomarkers.
- Bioinformatics tools and methods are presented for each pipeline stage.
- Analysis of public datasets demonstrates the practical application of the pipeline.
Conclusions:
- The described pipeline provides a framework for systematic genomic biomarker discovery in CVD.
- Current bioinformatics approaches are essential for advancing CVD molecular understanding.
- Further research is needed to address existing challenges and explore new opportunities in the field.
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