New PhD position in my lab at @uniofbath.bsky.social (with both @tweethinking.bsky.social & Dr Bethan Littleford-Colquhoun)!
We're looking for someone keen on bioinformatics and microbiome evolution.
Important info below on eligibility & URSA competition funding👇
www.findaphd.com/phds/project...
A huge welcome to bluesky for the Polygenic Score Catalog @pgscatalog.bsky.social 🎉🎉🎉🎉🎉
Check out the latest at www.pgscatalog.org
I would like to give a huge thank-you to my supervisors and senior authors Emma Davenport, @mikeinouye.bsky.social & Dirk Paul, and the lab at the Sanger institute for their support throughout this project
All of these results are publicly available to browse and explore on our portal at: intervalrna.org.uk
Finally, we assessed the contribution of eQTLs & sQTLs to GWAS risk loci, finding colocalizations both shared and unique to gene expression and splicing. Those overlapping proteomic or metabolic traits revealed potential pathways through which risk loci may be acting. (7/7)
Using this colocalized subset, we performed mediation analysis using individuals with overlapping multi-omic traits to interrogate the strength and direction of shared genetic effects, observing 222 molecular phenotypes significantly mediated by gene expression or splicing. (6/7)
Using multi-omic data collected from the same individuals and large external cohorts, we performed colocalization analysis to identify eQTLs and sQTLs also regulating proteomic or metabolomic traits, observing a total of 3,430 with a shared association signal. (5/7)
We additionally mapped trans-eQTLs and -sQTLs acting through cis-eGenes using the set of independent cis-eQTL variants. With this mechanism, we identified 2,058 trans-eGenes, and 644 splicing events (in 209 trans-sGenes), the most through the RNA-binding splice-factor QKI. (4/7)
Linking expression and splicing phenotypes to genotype, we discovered cis-QTLs for 17,233 eGenes, and 29,514 splicing phenotypes (in 6,853 sGenes). (3/7)
This was a huge effort by the whole team and particularly my co-first author Elodie Persyn, integrating proteomic and metabolite QTL data from the same individuals, and external health GWAS data to assess the genetic contribution of eQTLs & sQTLs to downstream traits. (2/7)
Very excited to share the first manuscript out of my PhD presenting our analysis into the genetic architecture of gene expression and splicing using blood RNA-seq of 4,732 blood donors from the INTERVAL study. (1/7)
📑📣 Gene misexpression is rare but can have major implications (dev diseases, limb malformations, cancers etc). When it does happen its associated with specific types of cis structural variants. This new paper identifies misexpressed genes & putative mechanisms. 👉 www.biorxiv.org/content/10.1...