New preprint: sequence-based models are very good at predicting human protein missense variants with an impact on function. Here we use AlphaFold2 models to infer mechanisms of effect of deleterious variants (stability, pockets and protein interfaces) biorxiv.org/content/10.110…

At #ESHG2024 in Berlin? Check out my talk at 7pm!

I’m getting this Kaitlin Samocha quote printed on an A0 poster

I will be at #eshg2024 for the first time this year. I will be around Monday and Tuesday and looking forward to getting to know more scientists in this field.

Sorry to be missing #eshg2024. From my group, Mahmoud Koko Musa will be presenting a poster on sex differences in autism at 3.45pm today, and Daniel Malawsky is talking at 11.30am on Tuesday in the brain phenotypes session about longitudinal genetic effects on cognition. Do go!

Checkout Eva‘s poster on DeepRVAT! Preprint: biorxiv.org/content/10.110… but many updates on her poster!

Our lab, in collaboration with partners from Genentech, Sanofi, @gsk, Pfizer Inc., Wellcome Sanger Institute, and EMBL-EBI, has been awarded £2M by Open Targets to generate novel perturbation data across multiple disease models and develop large generative models to facilitate the discovery

New paper: inlabru: software for fitting latent Gaussian models with non-linear predictors Preprint now up on arxiv arxiv.org/abs/2407.00791 Inlabru extends the class of models that users can fit with INLA (1/n)

Great to see our research "Genetic factors associated with reasons for clinical trial stoppage" finally out in Nature Genetics nature.com/articles/s4158…

Genomics 2 Proteins portal: a resource and discovery tool for linking genetic screening outputs to protein sequences and structures | Nature Methods - Genomics 2 Proteins (G2P) portal, linking 20,076,998 genetic variants to 42,413 protein sequences and 77,923 structures (58,027

We are happy to present SELPHI2.0 which uses the latest kinase specificity maps (PSSMs) and several other functional genomics and structural features to predict kinase-substrate associations. biorxiv.org/content/10.110…

We are looking for a postdoctoral researcher! Join our translational project aimed at exploring the processes that alter the epigenetic landscape of colorectal cancer cells and drive their metastasis. Become part of our group at @EMBL Apply here: embl.org/jobs/position/…

Quantgen friends: we are starting to accept applications for quantgen Gordon Research Conferences Feb 2025, and we’re now 1/3 full! We will make acceptances monthly, and prioritise those with abstracts, so pls submit yours early (you can edit it after submission)! grc.org/quantitative-g…

The fantastic #MLCB2024 talks, spotlights, panel & keynotes are now up on our Youtube channel at youtube.com/watch?v=tWzIK1…. Please RT!

Probably the most important paper I will ever write link.springer.com/article/10.118… Stephen Burgess BMC Medicine

Very late posting this but I am so so excited to be presenting at #ASHG24 tomorrow morning bright and early! Join me at 8am tomorrow Wed Nov 6th at the "All the Single Cells" session  in Room 501, to discuss an exciting new resource of matched #singlecell RNA-seq and WGS data!

For many traits there is a correlation between the number of duplications or loss-of-function (LoF) mutations someone carries, and their phenotype. Curiously, for most traits, these effects are aligned in the SAME direction. Why?

Are students still using Twitter? Just in case: if you are a postgraduate student interested in protein modelling and drug discovery, we have an exciting opportunity to join our team at GSK for a 6-9 months internship. Apply here before March 14th: linkedin.com/jobs/view/4171…

Are you a postgraduate student interested in protein modelling and drug discovery? We have an exciting opportunity to join our team at GSK for a 6-9 months internship, working on an ambitious cross-department research project. Apply before March 14th! gsk.wd5.myworkdayjobs.com/en-US/GSKCaree…

An exciting new paper proteomics paper describes novel insights on protein-disease mechanisms by using Seer ™-based MS combined with genomic data on the Genes & Health cohort. From the abstract by Maik Peitzner, Claudia Langenberg and colleagues: "... we idenIfy >1,200