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Patrícia R. S. Rodrigues

Bioinformatics Research Associate

I am a bioinformatics researcher working on the genetics of Alzheimer’s disease. My work focuses on understanding how genomic variation contributes to disease risk, with particular interest in complement system genes, structural variation, and pathway-level genetic risk. I use long-read sequencing and statistical genetics approaches to explore complex genomic regions that are difficult to resolve with standard methods.

Alongside research, I develop reproducible bioinformatics workflows and documentation to support transparent and collaborative computational research.

UK Dementia Research Institute at Cardiff University

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Focus areas

Long-read sequencing of complement genes in Alzheimer’s disease

Using PacBio long-read sequencing to investigate structural variation and complex genomic architecture in complement system genes associated with Alzheimer’s disease risk.

Polygenic risk score analysis and pathway-based interpretation

Developing pathway-based polygenic risk score approaches to better understand how biological systems contribute to Alzheimer’s disease susceptibility and heterogeneity.

Reproducible bioinformatics workflows

Building transparent and reusable computational workflows using GitHub, Quarto, and high-performance computing environments to support collaborative and reproducible research.


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Projects →

Case studies of research projects, including long-read sequencing analyses and genetic studies of Alzheimer’s disease risk.

Résumé for Research →

A narrative CV describing contributions to research, training, and the wider scientific community.

Outputs →

Publications, presentations, and other research outputs.