Annique Claringbould (@AnniqueC) profile picture

Assistant Professor πŸ‘©πŸΌβ€πŸ’» @ErasmusMC Find me at πŸ¦‹ https://xitter.cf/t.co/eVJeIcMtR8

Rotterdam, the Netherlands
Joined February 2010
Photo by Annique Claringbould (@AnniqueC)Photo by Annique Claringbould (@AnniqueC)Photo by Annique Claringbould (@AnniqueC)Photo by Annique Claringbould (@AnniqueC)Photo by Annique Claringbould (@AnniqueC)
🧬 How do immune disease-relevant variants affect gene regulatory networks in CD4+ T cells? πŸ§ͺπŸ–₯️ We coupled two large-scale CRISPRi screens (>4M cells) to map the downstream cascades of thousands of SNPs More details below πŸ§΅πŸ‘‡ or in the preprint πŸ“– tinyurl.com/variant2CRE2gene…
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🎯 The results help resolve individual immune-related loci (TYK2, DEXI/CLEC16A) and combined disease-relevant biological processes 🦠 We observe shared core immune programs (resp. to virus, T cell activation), but also disease-specific enrichments (tight junction org. in celiac)
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🀝 This was a truly collaborative effort bringing together experimental and computational expertise. Many thanks to the whole team, especially my co-lead @DewiMoonen; @SchraivogelS and @LarsMSteinmetz for excellent supervision; and @AndreasGschwind, Stefan Schrod and many others!
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‼️ MAJOR UPDATE from the preprint on bioRxiv: we aim to distinguish cell type composition from intracellular effects by replicating our results in single cell RNA-seq from 1,139 donors. We prioritize 729 intracellular trans-eQTL that are likely intracellular.
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We find that 88% of all genes expressed in blood are cis-eQTLs; genes without eQTL are more likely to be intolerant to mutations. The majority of lead cis-eQTL SNPs are located within 100kb of the gene, and if they are further away they overlap a capture Hi-C contact more often.