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Patrick Deelen

@patrickdeelen.bsky.social

Human geneticist trained in bioinformatics. I’m using population studies and RNA-seq to improve rare disease diagnostics. patrickdeelen.eu

Posts Replies Media

Patrick Deelen @patrickdeelen.bsky.social · 29/08/2026

Combining science and hobby. I designed this DNA whiteboard marker holder for my desk at the UMCG Genetics department. Free model: www.printables.com/model/182665... #3Dprinting #DNA #genetics

A 3D printed model using a dark brown wood filled filament. There is a round base and a standing double helix. The helix contains holes that are used hold whiteboard markers.

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Patrick Deelen @patrickdeelen.bsky.social · 05/12/2024

Height key genes are enriched for growth abnormality genes, including many genes known causing Ehlers–Danlos or osteogenesis imperfecta. We suspect that the other height key genes could be interesting targets when interpreting variants of unknown significance in patients with these diseases. 3/4

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Patrick Deelen @patrickdeelen.bsky.social · 05/12/2024

The key genes for common diseases are enriched for genes known to cause rare diseases as demonstrated by enrichments of Human Phenotype Ontology (HPO) terms. The key gene enrichments of HPO terms are much stronger than the enrichments of GWAS loci genes. 2/4

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Patrick Deelen @patrickdeelen.bsky.social · 05/12/2024

Downstreamer is now available: www.nature.com/articles/s41... We used 57 tissue specific gene expression networks to identify key genes of common diseases. 78% of these key genes are located outside of GWAS loci. 1/4

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