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
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
3/3
#GeneticDiagnostics #NonCodingGenome #RareDisease
3/3
July 10, 2025 at 10:11 PM
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
3/3
#GeneticDiagnostics #NonCodingGenome #RareDisease
3/3
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
July 10, 2025 at 10:11 PM
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