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
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
December 5, 2024 at 9:54 AM
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
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
December 5, 2024 at 9:54 AM
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
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
December 5, 2024 at 9:54 AM
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