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Updated: May 27, 2026
09:34
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Next steps in cardiovascular disease genomic research--sequencing, epigenetics, and transcriptomics
Renate B Schnabel1, Andrea Baccarelli, Honghuang Lin
1Department of General and Interventional Cardiology, University Heart Center Hamburg, Hamburg, Germany. schnabelr@gmx.de
Clinical Chemistry
|November 22, 2011
Summary
Genomic research is advancing cardiovascular disease (CVD) understanding. Novel sequencing, epigenetics, and systems biology approaches are key to developing clinical tools for CVD risk prediction and treatment.
Area of Science:
- Genomics
- Cardiovascular Disease Research
- Translational Medicine
Background:
- Genomic research in cardiovascular disease (CVD) has rapidly advanced.
- Clinical applications for risk prediction, diagnosis, and treatment lag behind genomic discoveries.
Purpose of the Study:
- To review novel methods and genomic targets for large-scale CVD screening.
- To identify critical advances needed to translate genomic findings into clinical practice.
Main Methods:
- Literature review of English-language scientific publications.
- Focus on next-generation sequencing (exome and whole-genome).
- Emphasis on epigenetics, gene expression, and systems biology approaches.
Main Results:
- Next-generation sequencing will identify rare genetic variants linked to CVD.
- Epigenetic and gene expression signatures are increasingly recognized as important.
- Integrating large-scale consortia, biobanks, and electronic health records is crucial.
Conclusions:
- Novel methods in sequencing, epigenetics, and transcriptomics will advance CVD insights.
- Large-scale cooperative efforts are essential for understanding CVD complexity.
- Integrating diverse data types will address the missing heritability in CVD.
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