Happy to see this out, check out our paper here: nature.com/articles/s41467-0…

Out today in PLOS Comp Biol: journals.plos.org/ploscompbi… Intrinsically disordered regions make variant prediction deceptively easy for benign changes but very hard for pathogenic ones. Our work shows why current tools struggle here, and why disorder-aware approaches are needed.

Genetic variants🧬 can cause protein-coding mutations resulting in disease. What about in alternative isoforms? Excited to share my 1st first-author pre-print! Here we show many variants reside in tissue-specific isoforms, causing coding mutations. A🧵 1/ biorxiv.org/content/10.1101/…

New paper out in Genome Biology! 🎉 We lay out best-practice guidelines for releasing variant effect predictors, developed through the Atlas of Variant Effects Alliance @varianteffects Open, interpretable, and clinically useful VEPs are the goal. 📄 doi.org/10.1186/s13059-025-0…

New review out with @L_Geras @teichlab ! 🧬🔬 We explore how protein structure is improving variant effect prediction. Advances in structural modelling, including AlphaFold, are powering methods like AlphaMissense, PrimateAI-3D, and CPT-1, leading to better accuracy and interpretability. Read more: sciencedirect.com/science/ar…

We are hiring a new postdoctoral bioinformatician! Come and work with us on multidisciplinary cancer genomics projects at the Institute of Genetics and Cancer in Edinburgh: elxw.fa.em3.oraclecloud.com/… institute-genetics-cancer.ed… semplelab.com

Protein predictive scores which predict the likelihood that the protein is associated with a dominant-negative, gain-of-function or loss-of-function mechanism are displayed. Curated literature support for a molecular disease mechanism is also shown. @jmarshlab @BdonyiMihly

Are you interested in AI and structural biology, genetics and the non-coding (aka “dark”) genome? A PhD studentship through the UKRI AI and biomedical innovation programme at @EdinburghUni @EdinUni_IGC has become available with myself and prof @jmarshlab

Very happy to see this work is now published and we hope our model will be useful for people

Excited to share the pre-print of the first story of my PhD project, investigating the function of peptidyl arginine deiminase 6 (PADI6), with @lwalport at @TheCrick. biorxiv.org/content/10.1101/…

Structural Insight into the Function of Human Peptidyl Arginine Deiminase 6 biorxiv.org/cgi/content/shor… #bioRxiv