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Excited to see this work led by Kudla lab is now out, showing that PAX6 DNA binding measured in a yeast 1-hybrid deep mutational scan outperforms existing computational approaches for variant classification embopress.org/doi/full/10.10…

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

Excited to share the pre-print of the first story of my PhD project, investigating the function of peptidyl arginine deiminase 6 (PADI6), with Louise Walport at The Francis Crick Institute. biorxiv.org/content/10.110…

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

Mark your calendars for the 8th Annual Mutational Scanning Symposium #VariantEffect25 "Mapping and Modelling Variant Effects at Scale"🗓️May 21-23, 2025 in Barcelona and online. Registration opens on Jan 20th, 2025. ℹ️varianteffect.org/mss2025 Centre for Genomic Regulation (CRG) IBEC

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 The University of Edinburgh Institute of Genetics and Cancer has become available with myself and prof Joe Marsh

Important ongoing work curating G2P gene-disease relationships with mechanism and mode of inheritance, Helen Firth The DECIPHER Project EMBL-EBI. Numerous panels available to download. genomemedicine.biomedcentral.com/articles/10.11…

We were delighted to welcome the Chief Medical Officer of Tanzania Professor Tumaini Nagu to the IGC this week, where she met Wendy Bickmore and Joe Marsh to hear about our research to improve the lives of people living with genetic disease and cancer. Wizara ya Afya Tanzania 🇹🇿

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. Joe Marsh Mihaly Badonyi

Happy to see our predictive scores integrated into DECIPHER! We hope they will help clinicians uncover the molecular mechanisms driving dominant disease. Huge thanks to the team at The DECIPHER Project for their support. A follow-up study is underway to improve predictions—stay tuned

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/hcmUI/Candidat… institute-genetics-cancer.ed.ac.uk semplelab.com

Mapping variant effects for a healthier future! Explore the Atlas of Variant Effects Alliance's 2024 #AnnualReport. From membership growth to global collaborations, discover how we're advancing genomics and making a difference #VariantEffectMapping varianteffect.org/annual-reports

New review out with Lukas Gerasimavičius 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

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 Atlas of Variant Effects Alliance Open, interpretable, and clinically useful VEPs are the goal. 📄 doi.org/10.1186/s13059…

The guidelines "aim to streamline VEP development, sharing, and evaluation by tackling data availability, interpretability, transparency, and circularity." Benjamin J. Livesey, Joe Marsh et al genomebiology.biomedcentral.com/articles/10.11…

Read more here about the work by Joe Marsh and Atlas of Variant Effects Alliance to improve transparency and trust in genetic prediction tools: edin.ac/4jBeF1k