14/14
🙏 Huge thanks to our team and everyone involved. Let's keep pushing the boundaries of genetic research!
🚀 Full paper here: journals.plos.org/plosgenetics...
13/14
🎁 Also a bonus: We've expanded! From 21 to 31 uniformly processed studies, including X chromosome QTLs for 19 of these.
12/14
🤔 Although many GWAS loci colocalised with eQTLs and transcript-level QTLs, visual inspection revealed insights. Some primary splicing QTLs can be distinguished from secondary large-effect gene expression QTLs.
11/14
🖼️ The result? QTL coverage plots for almost all colocalising signals in the eQTL Catalogue. Making complex genetic data more interpretable than ever!
10/14
📊 Out of the visually confirmed primary splicing QTLs, they explain 6/53 colocalising signals. But they're less pleiotropic than eQTLs, identifying a prioritised causal gene in 4/6 cases!
9/14
🔍 We illustrated the updates' utility with a colocalisation analysis between vitamin D levels in UK Biobank and all molecular QTLs in our catalogue.
8/14
📚 Also, to enable downstream colocalisation analysis with coloc.susie, we computed signal-level log bayes factors. This lets us define tag variants & molecular traits for all associations in 127 eQTL datasets.
7/14
🔎 With fine-mapping-based filtering, we've identified all independent genetic signals & molecular traits for each gene. Result? A 98% size reduction in summary statistics files!
6/14
📈 We've revamped data workflows to boost promoter usage & splicing QTL discovery. Plus, we're generating read coverage signals for a whopping 25,724 RNA-seq samples.
5/14
💡 Our solution? A systematic approach to generate QTL coverage plots for almost all significant genetic signals & molecular traits. No more individual one-offs!
4/14
📊 Past studies visualised individual QTLs. But with vast datasets like GTEx & the eQTL Catalogue, the sheer number of plots needed can be overwhelming.
3/14
🔍 QTL coverage plots can shed light on this! They visualise RNA-seq read coverage changes linked to alternative alleles, helping clarify the genetic effects and affected gene parts.
2/14
🧬 The challenge: Determining the mechanisms of action for molecular QTLs. Overlaps, technical biases, and numerous transcripts for a gene make it tough.
1/14
🎉 Exciting update on our work with the eQTL Catalogue! We're diving deep into understanding genetic variants associated with complex traits in non-coding regions of the genome.
journals.plos.org/plosgenetics...
