Victor Sanchez Gaya
@sanchezgaya.bsky.social
Bioinformatics & Biostatistics / Developing POSTRE http://github.com/vicsanga/Postre to improve human genetic diagnostics / Postdoc at @radaiglesiaslab.bsky.social
Pinned
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
🥳 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
1/3
Reposted by Victor Sanchez Gaya
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...
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
August 11, 2025 at 2:56 PM
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...
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! 👁️👇🍿
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.
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.
July 24, 2025 at 5:19 PM
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! 👁️👇🍿
🥳 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
1/3
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
July 10, 2025 at 10:11 PM
🥳 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
1/3
Reposted by Victor Sanchez Gaya
🧵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...
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
July 9, 2025 at 1:47 PM
🧵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...
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...
Reposted by Victor Sanchez Gaya
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!
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...
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
June 26, 2025 at 5:32 PM
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 ❤️
May 23, 2025 at 10:09 PM
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! 👇👇
#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
May 15, 2025 at 8:24 AM
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.
March 20, 2025 at 8:15 AM
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.
Reposted by Victor Sanchez Gaya
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.
First in the morning Victor Sanchez from IBBTEC showcasing the performance of their POSTRE tool to diagnose TAD-related disease.
March 13, 2025 at 10:57 PM
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.
First in the morning Victor Sanchez from IBBTEC showcasing the performance of their POSTRE tool to diagnose TAD-related disease.