🔔Join us next Wednesday for #FragileNucleosome! 2 fantastic talks on chromatin regulation:🔬 @mariamafau.bsky.social on ZIC2's dual role in neural induction 🔬 @jhenninger.bsky.social on how RNA-binding proteins drive transcription
📋Register here for the entire series: us06web.zoom.us/webinar/regi...
Excited to share the latest work from the lab led by @eharo84.bsky.social, in which we have used synthetic biology to explore the mechanisms by which different types of long-range enhancers ensure robust and precise developmental gene expression
www.biorxiv.org/content/10.1...
Glad to see this work finally out🥳. It has been a real pleasure to be a character on this play 🎭. An excellent work produced by @radaiglesiaslab.bsky.social with @mariamafau.bsky.social as the director & main character (alongside her inseparable friend ZIC2🧠). Take a look at the full plot! 👁️👇🍿
This is the result of a truly multidisciplinary team 🧑🤝🧑🧑🤝🧑, led by @gp83.bsky.social , @dalyaf.bsky.social and @martinfranke.bsky.social and joined by @radaiglesiaslab.bsky.social and myself for this new chapter.
#GeneticDiagnostics #NonCodingGenome #RareDisease
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Using POSTRE, we have refined the critical regulatory elements responsible for the disease and better understand the differences between pathogenic and benign duplications affecting GPR101. These insights can enhance the clinical management of individuals with GPR101 duplications.💪 2/3
🥳 Happy to share the results of an ongoing work in which we are applying POSTRE (our tool for SV interpretation github.com/vicsanga/Pos...) to better comprehend the cause of X-LAG tumors, a pituitary disorder responsible for an overgrowth condition 🧬. Preprint: www.medrxiv.org/content/10.1...
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Our new preprint is out! Proud to have contributed to this collaborative study. We identified the enhancer cluster responsible for GPR101 overexpression in X-linked acrogigantism (X-LAG) - a key step toward understanding this rare pituitary disorder 🧠🧬
🔗 www.medrxiv.org/content/10.1...
Latest from the lab! Led by @xuening-he.bsky.social, establishing a framework for interpretation of the motif syntax of regulatory elements and a quantitative model for transcription factor cooperativity. Plenty of cool stuff revealed, including TF redundancy and synergy, and their regulatory roles!
Ready and excited to start with #ESHG2025. If you want to hear about how developmental genes can contribute to the insulation of their own TADs, and the consequences for SV interpretation, find me on P22.020.A poster on Sunday 13:00-14:00. Special thanks to the best host @mattetrovato.bsky.social ❤️
You can not miss this one! 👇👇
It was great to participate at the #ComputationalBiology & #Bioinformatics CSIC connection event last week in Madrid, @bcbhubcsic.bsky.social . I could talk about POSTRE, our solution for interpreting structural variants github.com/vicsanga/Pos..., and discover great people & projects.
TADs, BCB.hub tools
Second day of the second BCB.hub meeting. A very intense day full of interesting stuff.
First in the morning Victor Sanchez from IBBTEC showcasing the performance of their POSTRE tool to diagnose TAD-related disease.
