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Victor Sanchez Gaya

@sanchezgaya.bsky.social
76 followers 264 following 7 posts

Bioinformatics & Biostatistics / Developing POSTRE github.com/vicsanga/Postre to improve human genetic diagnostics / Postdoc at @radaiglesiaslab.bsky.social

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Reposted by Victor Sanchez Gaya
María Mariner @mariamafau.bsky.social · 09/06/2026
There are so many fun ways to approach research dissemination! Tried the @prelights.bsky.social spotLight video format to share our latest published work on how ZIC2 shapes early neural development! Total YouTuber vibes: and I kinda' loved it, tbh. 🤳🔬👇 youtu.be/V_yMoWMkZCM
youtu.be
spotLights Ep 21: María on how ZIC2 shapes neural development #neuroscience #science #biology
YouTube video by The Company of Biologists
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Reposted by Victor Sanchez Gaya
FragileNucleosome @fnucleosome.bsky.social · 26/11/2025
🔔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...
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Reposted by Victor Sanchez Gaya
Rada-Iglesias Lab @radaiglesiaslab.bsky.social · 11/08/2025
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...
biorxiv.org
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...
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Victor Sanchez Gaya @sanchezgaya.bsky.social · 24/07/2025
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! 👁️👇🍿
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Victor Sanchez Gaya @sanchezgaya.bsky.social · 10/07/2025
🥳 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... 1/3
medrxiv.org
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...
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Reposted by Victor Sanchez Gaya
Martin Franke @martinfranke.bsky.social · 09/07/2025
🧵1/3 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...
medrxiv.org
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...
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Reposted by Victor Sanchez Gaya
Robin Andersson @randersson.bsky.social · 26/06/2025
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!
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Victor Sanchez Gaya @sanchezgaya.bsky.social · 23/05/2025
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 · 15/05/2025
You can not miss this one! 👇👇
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Victor Sanchez Gaya @sanchezgaya.bsky.social · 20/03/2025
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 · 13/03/2025
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.
TADs, BCB.hub tools
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