Research Prototype · Data & Algorithms
DNA Mutation Analysis
Exploring DNA variants through a bioinformatics research workflow.
Background
A bioinformatics research prototype exploring DNA variants associated with neurodegenerative diseases.
Key Decisions
Organize the Analysis Into Stages
Structure the research workflow around sequence-quality checks, alignment, variant calling and filtering.
Results
A computational workflow for further research. The gallery uses dummy variant records; the full pipeline has not been reverified and is not a validated diagnostic tool.
Contribution
The pipeline covers sequence-quality checks, read alignment, variant calling and filtering with Python, BWA, Samtools and BCFtools.