Bioinformatician in Rare Diseases

Bioinformatician at University of Cambridge with Prof Chris Wallace, working on the INTREPID project.

I write pipelines to handle rare disease molecular data and produce reports for clinicians (see my CV). I blogged about my previous work with animal genomes, transcriptomes, and TAD data.

I provide a unique technical-research bridge to support and enhance the research of a large, dynamic group with multiple project heads. I have a track record of improving both research findings and technical operations, from foundational data analyses to advanced pipeline development and interpretation.

Want to know more? Reach out to me and read some papers.

The neurodegenerative disease of my niece has driven me to shift my path from insect evolutionary biology to genomics of rare diseases. I keep an eye on Batten disease literature, see our French outreach website on CLN3 disease.

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