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Reposted by Victor Sanchez Gaya

Rada-Iglesias Lab @radaiglesiaslab.bsky.social · Aug 11

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...

Synthetic engineering demonstrates that synergy among enhancers involves an increase in transcriptionally productive enhancer-gene contacts

Enhancers are non-coding cis-regulatory elements that control the expression of distally located genes in a tissue- and time-specific manner. Recent studies indicate that enhancers can differ in their...

www.biorxiv.org

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Victor Sanchez Gaya @sanchezgaya.bsky.social · Jul 24

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! 👁️👇🍿

María Mariner @mariamafau.bsky.social · Jul 24

Thrilled to share the story stemming from my PhD!
We used mESC neural differentiation, genome editing and bulk & single-cell approaches to uncover how ZIC2 controls early neural fate by playing a dual and sequential regulatory role as a promiscous pioneer and a selective lineage-specific activator.

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Victor Sanchez Gaya @sanchezgaya.bsky.social · Jul 10

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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Victor Sanchez Gaya @sanchezgaya.bsky.social · Jul 10

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

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Victor Sanchez Gaya @sanchezgaya.bsky.social · Jul 10

🥳 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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Distinguishing benign from pathogenic duplications involving GPR101 and VGLL1-adjacent enhancers in the clinical setting with the bioinformatic tool POSTRE

Background Structural variants (SVs) that disrupt topologically associating domains (TADs) can cause disease by rewiring enhancer-promoter interactions. Duplications involving GPR101 are known to caus...

www.medrxiv.org

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Reposted by Victor Sanchez Gaya

Martin Franke @martinfranke.bsky.social · Jul 9

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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...

Distinguishing benign from pathogenic duplications involving GPR101 and VGLL1-adjacent enhancers in the clinical setting with the bioinformatic tool POSTRE

Background Structural variants (SVs) that disrupt topologically associating domains (TADs) can cause disease by rewiring enhancer-promoter interactions. Duplications involving GPR101 are known to caus...

www.medrxiv.org

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Reposted by Victor Sanchez Gaya

Robin Andersson @randersson.bsky.social · Jun 26

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!

xuening-he.bsky.social @xuening-he.bsky.social · Jun 26

Excited to share DeepCompARE + ISA - a lightweight deep learning model + efficient interpretation method, to uncover rules of TF cooperativity via genome-wide in silico motif ablations!

Preprint: www.biorxiv.org/content/10.1...
Github: github.com/anderssonlab...

Genome-wide rules of transcription factor cooperativity revealed through in silico binding site ablation

Transcription factor (TF) cooperativity plays a critical role in gene regulation. However, the underlying genomic rules remain unclear, calling for scalable methods to characterize the TF binding site...

www.biorxiv.org

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Victor Sanchez Gaya @sanchezgaya.bsky.social · May 23

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 ❤️

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Victor Sanchez Gaya @sanchezgaya.bsky.social · May 15

You can not miss this one! 👇👇

María Mariner @mariamafau.bsky.social · May 15

#EMBLChromatin keeps being awesome: fantastic talks, lots of networking and troubleshooting! But guess who is also multitasking? ZIC2! Particularly during neural induction! Come by this afternoon to check poster 158 and I’ll tell you all about it 😉 @radaiglesiaslab.bsky.social

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Victor Sanchez Gaya @sanchezgaya.bsky.social · Mar 20

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.

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Reposted by Victor Sanchez Gaya

BCBHubCSIC @bcbhubcsic.bsky.social · Mar 13

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.

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