Research Programme Image 1. Pinpointing DNA variants that alter complex disease risk What are the causal contributions to disease risk made by DNA variants that alter transcription factor-binding affinity? For this, we used data from 6,017 ChIP-seq samples, 558 TFs and 46 genotyped cell lines to identify nearly 16,000 DNA variants that alter transcription factor binding. We are now interrogating these variants for their association with human diseases and traits using TarGene, a new algorithm developed with colleagues Sjoerd Beentjes, Ava Khamseh and Olivier Labayle Pabet. 2. Inferring cell states in single cell RNA-seq data. We have developed Stator, a novel method, workflow and app that reveals cell types, subtypes and states without relying on local proximity of cells in gene expression space. Stator is now being applied in many different biomedical contexts. This is an interdisciplinary project with colleagues Sjoerd Beentjes, Ava Khamseh, Abel Jansma and Luigi Del Debbio. 3. ME/CFS Genetics DecodeME is a £3.2m NIHR and MRC-funded strategic grant running until August 2025. With 18,000 DNA participants, this is the world’s largest genetic study into ME/CFS. An initial genome-wide association analysis (using matched UK Biobank individuals as controls) will occur late in 2024. DecodeME is a co-production with people with lived experience of ME/CFS that adheres to UK PPI Standards. PhD students also work in the group on ME/CFS genetics funded by Action for ME or by ME Research UK. We support Action for ME’s vision to establish the UK’s first Genetics Centre of Excellence, a virtual network of ME researchers who, with the ME community, will build on the genetic insights gained through DecodeME and other studies. Image Please get in touch (chris.ponting@ed.ac.uk) if you would like to undertake a personal Fellowship, postdoctoral post or studentship with us! This article was published on 2024-09-23
