Joe Marsh

Computational biologist at @MRC_HGU, @EdinUni_IGC, @EdinburghUni

[Joe Marsh @jmarshlab]

Happy to see this out, check out our paper here: https://t.co/SSPPYDZUMc

[Joe Marsh @jmarshlab]

Out today in PLOS Comp Biol:
https://t.co/azjJ1w8955
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.

[Giovanna Weykopf @WeykopfG]

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/ https://t.co/fWbeBAsuUY

[Joe Marsh @jmarshlab]

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.

📄 https://t.co/YUsRgE4usw

[Joe Marsh @jmarshlab]

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: https://t.co/ywUNAYv0gH

[Colin Semple @DrColinSemple]

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:
https://t.co/CrT8MuLQee

https://t.co/RHIDO7Npor
https://t.co/5z3Y7KxJG5

[The DECIPHER Project @deciphergenomic]

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

[Simon Biddie @SimonBiddie]

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

[Joe Marsh @jmarshlab]

and thanks to @ListerInstitute whose support allowed me to recruit Diego!

[Joe Marsh @jmarshlab]

Excited to share our new paper led by PhD student Diego Chillón Pino with @BdonyiMihly and @DrColinSemple

[Cell Reports @CellReports]

Protein structural context of cancer mutations reveals molecular mechanisms and candidate driver genes https://t.co/2tvaHwOHjK

[Joe Marsh @jmarshlab]

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

[Jack Williams @JackWSci]

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.

https://t.co/AronDZEaIC

[Joe Marsh @jmarshlab]

@DFlemmingHansen @NatureComms @gogulan_k @bhu_vaibhav @UCLLifeSciences @TheCrick very cool!