Martin Franke
@martinfranke.bsky.social
🇪🇺 Researcher @cabd-upo-csic.bsky.social in Seville 🇪🇦 | LaCaixa Junior leader & RyC fellow.
Studying gene regulation in development and disease.
Formerly with Gómez-Skarmeta 🇪🇦 and Mundlos laboratories 🇩🇪.
Studying gene regulation in development and disease.
Formerly with Gómez-Skarmeta 🇪🇦 and Mundlos laboratories 🇩🇪.
3/3
Fantastic teamwork with Víctor Sánchez Gaya @sanchezgaya.bsky.social, Álvaro Rada Iglesia, and long-time collaborators Adrian Daly and Giampaolo Trivellin @gp83.bsky.social. Grateful to be part of it! 🙌
Original POSTRE paper - a powerful tool for clinical genetics!
🔗 tinyurl.com/3ys78kvc
Fantastic teamwork with Víctor Sánchez Gaya @sanchezgaya.bsky.social, Álvaro Rada Iglesia, and long-time collaborators Adrian Daly and Giampaolo Trivellin @gp83.bsky.social. Grateful to be part of it! 🙌
Original POSTRE paper - a powerful tool for clinical genetics!
🔗 tinyurl.com/3ys78kvc
POSTRE: a tool to predict the pathological effects of human structural variants
Abstract. Understanding the pathological impact of non-coding genetic variation is a major challenge in medical genetics. Accumulating evidences indicate t
academic.oup.com
July 9, 2025 at 1:47 PM
3/3
Fantastic teamwork with Víctor Sánchez Gaya @sanchezgaya.bsky.social, Álvaro Rada Iglesia, and long-time collaborators Adrian Daly and Giampaolo Trivellin @gp83.bsky.social. Grateful to be part of it! 🙌
Original POSTRE paper - a powerful tool for clinical genetics!
🔗 tinyurl.com/3ys78kvc
Fantastic teamwork with Víctor Sánchez Gaya @sanchezgaya.bsky.social, Álvaro Rada Iglesia, and long-time collaborators Adrian Daly and Giampaolo Trivellin @gp83.bsky.social. Grateful to be part of it! 🙌
Original POSTRE paper - a powerful tool for clinical genetics!
🔗 tinyurl.com/3ys78kvc
2/3
In collaboration with @radaiglesiaslab.bsky.social, we applied and expanded POSTRE, a bioinformatics tool that rapidly classifies structural variants in the pituitary, distinguishing pathogenic duplications from benign ones in diagnostic settings.
#SVs #GPR101 #enhancers #TADs #TADopathies
In collaboration with @radaiglesiaslab.bsky.social, we applied and expanded POSTRE, a bioinformatics tool that rapidly classifies structural variants in the pituitary, distinguishing pathogenic duplications from benign ones in diagnostic settings.
#SVs #GPR101 #enhancers #TADs #TADopathies
July 9, 2025 at 1:47 PM
2/3
In collaboration with @radaiglesiaslab.bsky.social, we applied and expanded POSTRE, a bioinformatics tool that rapidly classifies structural variants in the pituitary, distinguishing pathogenic duplications from benign ones in diagnostic settings.
#SVs #GPR101 #enhancers #TADs #TADopathies
In collaboration with @radaiglesiaslab.bsky.social, we applied and expanded POSTRE, a bioinformatics tool that rapidly classifies structural variants in the pituitary, distinguishing pathogenic duplications from benign ones in diagnostic settings.
#SVs #GPR101 #enhancers #TADs #TADopathies