Very happy to share our new paper now on @medrxivpreprint: “Genetic risk effects act in sets”, a great effort led my PhD student @JolienRietkerk, and performed together with collaborators @andywdahl, @AndrewSchork, @jonathan_flint1 etc. Thread 1/n Our paper addresses a central question in quantgen: whether all genetic variants associated with a complex disease contribute additively to its liability as commonly assumed, or there exists sets of them that co-occur more in certain cases than expected under additivity. 2/n

New preprint! In this paper @andywdahl and I et al show how phenotype integration can improve GWAS power and PRS prediction for Major Depressive Disorder (MDD), and a new and simple metric for quantifying how specific these improvements are for MDD tinyurl.com/mry37nry
🧵 1/n Bit of context: in 2020 we published a paper saying minimal phenotypes widely collected in biobanks and EHRs (eg self-reported depression, ICD10 codes) do not capture specific genetic effects for MDD, old tweetorial here:

https://twitter.com/caina89/status/1244660761437274117

2/n

New paper in @NatureMedicine on #mtDNA variant effects on metabolites, from my colleagues and I from @sangerinstitute, @emblebi , @Cambridge_Uni and @MRC_MBU! nature.com/articles/s4159…

@nicolesoranzo @cam_mito @OliverStegle @auroradevea @joannahowson @DoingYonova
🧵 1/n We identified common #mtDNA variants in 16K British individuals with EUR ancestry from the INTERVAL study, performed the first large-scale assoc study between #mtDNA variants and ~5000 molecular traits that directly tag metabolic processes. 2/n