Elena Vigorito and Anna Hutchinson both presented their work at MASAMB 2019 today.
There is increasing evidence that gene regulation differs between patients with active disease and healthy controls, but eQTL studies still focus in the majority on healthy individuals. Elena spoke on “Mapping cis-eQTL from RNA-seq data with no genotypes” which we hope will be useful to detect eQTLs in patient samples that may have been collected for biomarker studies that didn’t automatically collect genotypes.
Anna spoke on “Identifying Causal Genetic Variants - Not so credible Credible sets”, demonstrating a systematic bias in the frequentist coverage of GWAS fine mapping credible sets and - importantly! - a method for correcting it.