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Thrilled to share our work on fine-mapping of immune-mediated diseases (IMD) using regulatory quantitative trait loci (QTLs) finally out in @NatureGenet
nature.com/articles/s4158…
@SoranzoTeam @sangerinstitute @Cambridge_Uni
#immunediseases #autoimmune #GWAS #QTL
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nature.com/articles/s4158…
@SoranzoTeam @sangerinstitute @Cambridge_Uni
#immunediseases #autoimmune #GWAS #QTL
🧵 1/14
Here we extended the evaluation of regulatory QTLs generated as part of the @blueprint_eu project to systematically map molecular mechanisms and causal variants at 12 immune-mediated diseases with publicly-available summary statistics. 2/14 
📢 The BLUEPRINT "phase 2" genotype data and regulatory QTL summary statistics are available in the @EGAarchive (ega-archive.org/datasets/) under accession codes EGAD00001005192, EGAD00001005199 and EGAD00001005200.
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1/ Excited to share work led by @varshney_arushi genetics.org/content/211/2/… @GeneticsGSA, we compared gene regulatory annotations defined using diverse #epigenomic data across 4 cell types to measure cell specificities and #genetics of #geneRegulation
2/ We observed that stretch and super #enhancers are more cell type-specific whereas HOT regions and broad domains comprise more ubiquitous promoter states
3/ #eQTL in stretch enhancers have significantly smaller effect sizes compared to those in HOT regions. This suggests regulatory buffering where the expression of cell-identity genes is more tightly controlled
