@ludefranke.bsky.social
Thanks to amazing contributions of 52 cohorts we have been able to complete a full genome-wide trans-eQTL analysis in 43,301 blood samples. Many thanks to everyone involved, this has been a huge effort!
🧬 New preprint alert! After years of collaborative work across 52 datasets we are presenting eQTLGen phase 2: a genome-wide eQTL meta-analysis covering 43,301 blood samples: www.medrxiv.org/content/10.6... (1/8)
February 6, 2026 at 10:56 AM
Thanks to amazing contributions of 52 cohorts we have been able to complete a full genome-wide trans-eQTL analysis in 43,301 blood samples. Many thanks to everyone involved, this has been a huge effort!
We studied non-coding somatic mutations in WGS data of 24,000 cancer patients. We employed sequence-based models to identify promotors, enriched for somatic variants that are predicted to affect expression. A great collaboration with the teams of Emile Voest, Bas van Steensel and Jeroen de Ridder!
We are excited to share our manuscript “Identification of (ultra-)rare functional promoter mutations in cancer using sequence-based deep learning models” (www.medrxiv.org/content/10.1...). (1/16) 🧵
May 7, 2025 at 8:03 AM
We studied non-coding somatic mutations in WGS data of 24,000 cancer patients. We employed sequence-based models to identify promotors, enriched for somatic variants that are predicted to affect expression. A great collaboration with the teams of Emile Voest, Bas van Steensel and Jeroen de Ridder!