I’m a bioinformatician at the UK Dementia Research Institute (Cardiff), working on Alzheimer’s disease genetics with a focus on long-read sequencing, complex variation, and reproducible analysis workflows.
I care about open, reproducible research, clear documentation, and building tools and templates that make good practice the default — not the exception.
- Long-read WGS (PacBio HiFi): SNVs, SVs, gene-complex regions
- GWAS & polygenic risk scores (pathway-level, disease stratification)
- Multi-omics integration (genomics, transcriptomics, biomarkers)
- HPC-scale, workflow-driven analysis
- Making long-read genomics analyses transparent, inspectable, and reusable
- Creating templates, examples, and training resources for new starters
📌 Repositories here include analysis examples, templates, and tooling I actively use or recommend.
🔗 Team website: AD-Genomics-Cardiff site 🔗 Personal Page: Patricia R.S. Rodrigues