Gagneur lab

@gagneurlab.bsky.social

News from the Gagneurlab@TUM -- To understand the genetic basis of gene regulation and its implication in diseases. https://www.cs.cit.tum.de/cmm

Very glad to see PROTRIDER, our protein expression outlier caller, used for establishing new rare diseased diagnoses.

MS Proteomics@mspcf.bsky.social · 9mo ago

(4/5) We contributed by generating the #Proteomics data and by combining our custom data analysis workflow with a supercool tool called #ProtRider (@gagneurlab.bsky.social), which has a strong potential to study #RareDiseases, or any other case in which the number of bioreps available is limited.

Excited to share UKBBGym at #ASHG25, a new benchmark for variant effect predictors using WGS, proteomics and phenotypes from 500K UKBiobank participants. Stop by for insights on the impact of non-coding variants and how computational scores stack up against exp assays. Poster 5022W, Wed 2:30-4:30.

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The Solvathons have been one of our most exciting research community experiences: Hands-on, effective – solving real cases during the events, and multidisciplinary – from clinicians to bioinformaticians. Thumbs up to the SolveRD community. Looking for more now with @erdera.bsky.social rdcu.be/eFaqO

The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease

Nature Genetics - This Perspective presents the Solve-RD Solvathon model, an innovative, pan-European framework uniting clinical and bioinformatics experts to diagnose rare diseases through...

rdcu.be

Congrats for the poster prize at #EMBLProtein, Xavi @xavierheal.bsky.social‬ ! Wonderful to dissect the translational response to metabolic shifts with time series of ribosome profiling and AI. Exciting multidisciplinary project. So glad to work with you and Danny Nedialkova on this.

Xavier Hernandez Alias@xavierheal.bsky.social · 11mo ago

Exciting science at the #EMBLProtein meeting, and still one more day ahead! If you missed it, come today by my poster 130 to learn about our work at Nedialkova's @mpibiochem.bsky.social and @gagneurlab.bsky.social !

Update of our protein outlier caller PROTRIDER. We now handle missing values, a widespread issue for mass spec where missing values are not a random -- and this improves outlier detection on non-missing data! Thumbs up to Daniela and George for the great work. doi.org/10.1101/2025...

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Gagneur lab@gagneurlab.bsky.social · last yr.

Excited to share that PROTRIDER, our method to call outliers on mass spectrometry-based proteomics data, is out now!! #proteomics #massspectrometry #raredisease doi.org/10.1101/2025...

Looking forward to Kathie Pollard talk on human variant interpretation this Wed. at the Kipoi seminar!

Kipoi@kipoizoo.bsky.social · last yr.

Join us for our next Kipoi Seminar with Katherine Pollard, Gladstone Institute of Data Science & Biotechnology,UCSF, Biohub @gladstoneinst.bsky.social @czbiohub.bsky.social 👉Human variant interpretation with sequence-to-activity models 📅Wed June 4,5:30pm CET🧬 kipoi.org/seminar/🦋@kipoizoo.bsky.social

In today's poster session #probgen25. To the pop gen folks, interesting observation: The influence of a nucleotide on reconstructing others, rather than its own reconstructability, is a better predictor of function. This metric makes DNA LMs beat conservation in several benchmarks.

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Gagneur lab@gagneurlab.bsky.social · last yr.

and @pedrotomazdasilva.bsky.social will present tomorrow at #probgen25 poster 128 on dependency analysis of DNA language models. Come and see what functional relationships DNA LMs capture, from regulatory code to RNA structures. Preprint: doi.org/10.1101/2024...