New preprint from our group extending our work on mechanisms of pathogenic variants to cancer-associated mutations biorxiv.org/content/10.110…

Happening tomorrow!!
Are you a Variant Effect Predictor enthusiast? Someone who is interested in functional genomics and precision medicine? This is the Seminar for you! Speakers Ben Livesey Joe Marsh and Clare Bycroft of DeepMind
varianteffect.org/seminar-series

New paper:

Interface Gain-of-Function Mutations in TLR7 Cause Systemic and Neuro-inflammatory Disease MRC_HGU Institute of Genetics and Cancer Joe Marsh Mihaly Badonyi

Read more here: doi.org/10.1007/s10875…

Preprint alert: pleased and relieved to finally share this work using CRISPR saturating mutagenesis to quantify signalling phenotypes from all possible missense changes in the CTNNB1 exon 3 degron.

We have an open postdoctoral position on deep mutational scanning of transcription factor genes Kudla lab MRC_HGU Atlas of Variant Effects Alliance. Apply by 4th October! jobs.ac.uk/job/DCK493/res…

With this new surge of interest in variant effect prediction, it is important to remember the huge risk of circularity in these predictions. See Dominik Grimm's work from 2015:
pubmed.ncbi.nlm.nih.gov/25684150/
mentioned in the Science Perspective on #AlphaMissense :

science.org/doi/full/10.11…

Excited to share our Perspective on the new AlphaMissense variant effect predictor tool from Google DeepMind Science Magazine science.org/doi/full/10.11…

Check out our News & Views on this new paper in Nature Genetics, with Ben Livesey nature.com/articles/s4158…

VACANCY: We are seeking an outstanding candidate who will sustain a world-leading research programme as Chair of Functional and Translational Genomics.
Join us, apply by 18 August 2023. #Genomics
ed.ac.uk/institute-gene…

We are excited to announce a new Genome Biology article collection “Towards an atlas of variant effects” which highlights the power of approaches of MAVEs as well as computational tools for understanding gene function, disease variants and biology. tinyurl.com/VarEffect 🧵1/6

Our Joe Marsh/@MRC_HGU investigation of structural protein stability predictors using deep mutational scanning (DMS) data has been published in Protein Science proteinsociety doi.org/10.1002/pro.46…

Common sources of bias in variant effect predictor benchmarking are assessed using data from #deepmutationalscanning experiments ➡️ embopress.org/doi/full/10.15…
Joe Marsh @MRC_HGU Institute of Genetics and Cancer The University of Edinburgh #geneticvariant

VEPs are algorithms that predict whether a mutation will cause a disease. They are valuable for diagnosis and research into treatments. Dozens of VEPs are freely available online or by download (varianteffect.org/veps).

great work Ben!

We are hiring for a postdoc position in evolutionary structural biology with the lab of Christophe Dessimoz to study the evolution of animal cells. Based either in Zurich or Lausanne depending on personal circumstances. More details at: career5.successfactors.eu/career?company…

In this review, we (Joe Marsh) synthesize the hallmarks of cotranslational assembly. We discuss the underlying mechanistic interpretations and highlight the differences in neutralist and selectionist ways of thinking about their functional importance.
doi.org/10.1111/febs.1…