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jmarshlab.bsky.social
9 posts 45 followers 71 following
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Very excited to see our recent preprint covered here! @mbadonyi.bsky.social

submitted 3 days ago • 0 comments

Read more about this study by @jmarshlab.bsky.social 👇

submitted 11 days ago • 0 comments

Mutational Scanning helps guide precision medicine! But how does it work? 🤔 Check out this Introduction to Deep Mutational Scanning (Animation) @uwgenome.bsky.social www.youtube.com/watch?v=NRKj...

submitted 17 days ago • 0 comments

The guidelines "aim to streamline VEP development, sharing, and evaluation by tackling data availability, interpretability, transparency, and circularity." Benjamin J. Livesey, @jmarshlab.bsky.social et al genomebiology.biomedcentral.com/articles/10....

submitted 17 days ago • 0 comments

Following our variant effect predictor (VEP) guidelines paper last week, we’re excited to announce another publication in Genome Biology today—the latest iteration of our VEP benchmarking efforts. With so many VEPs released recently, how do we choose the best ones? 🌐 doi.org/10.1186/s130...

submitted 19 days ago • 1 comment

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 @varianteffect.bsky.social Open, interpretable, and clinically useful VEPs are the goal. 📄 doi.org/10.1186/s130...

submitted 26 days ago • 2 comments

Great to see you Sarah!

submitted 37 days ago • 0 comments

Structure-informed classification of RyR1 variants highlights limitations of current predictors and enables clinical interpretation https://www.medrxiv.org/content/10.1101/2025.04.02.25325085v1

submitted 38 days ago • 0 comments

Had a good time discussing variant effect predictors on this podcast, thanks for having me!

submitted 40 days ago • 0 comments

Sign up now for the 'Enter the Dark Genome - Instructions Hidden in Plain Sight' talk by @katarney.bsky.social at @rcpedin.bsky.social on 2 April from 6-7pm, followed by a drinks reception: edin.ac/4ip4egz

submitted 52 days ago • 0 comments

📣 We are advertising for a postdoc to join our team at the University of Edinburgh! Our lab studies gene regulatory mechanisms in development, and how genetic changes may impact these processes to alter development and shape human craniofacial form and function 🧬🧪

submitted 52 days ago • 6 comments

Check out our new preprint and Google Colab notebook if you are interested in predicting the molecular mechanisms of missense disease phenotypes. We find that gain-of-function and dominant-negative effects are very common, and that many disease genes are associated with multiple distinct mechanisms

submitted 55 days ago • 0 comments

New review out! 🧬🔬 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. www.sciencedirect.com/science/arti...

submitted 75 days ago • 0 comments

Prof Joe Marsh and I have a PhD project as part of the 2025 Edinburgh Doctoral College Scholarship: "Integrating AI, Biophysical Modelling and Experimental Validation for Enhancer Variant Interpretation". Closing date for applications is 25 April 2025. Please get in touch if you are interested! 🧬🧠

submitted 91 days ago • 0 comments

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

submitted 99 days ago • 0 comments

Our next monthly event will focus on Variants with two exciting speakers from @edinburgh-uni.bsky.social @ailithewing.bsky.social and @jmarshlab.bsky.social 🗓️ February 17th, 3-5pm 🏠 237B, University of Glasgow Advanced Research Centre #compbio #variants

submitted 101 days ago • 0 comments

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 @deciphergenomics.bsky.social for their support. A follow-up study is underway to improve predictions—stay tuned!

submitted 123 days ago • 0 comments

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.bsky.social @mbadonyi.bsky.social

submitted 123 days ago • 0 comments