Donate Weghorn
banner
weghornlab.bsky.social
Donate Weghorn
@weghornlab.bsky.social
Group leader at the Centre for Genomic Regulation (CRG), Barcelona, Spain. Interested in cancer evolution and human population genetics.
Pinned
I am very pleased to see our work, in which we describe a mutational hotspot at transcription start sites in the human germline, out:
www.nature.com/articles/s41...
Great work from @castellanoed.bsky.social, @vseplyarskiy.bsky.social, Miguel Cortés Guzmán and Clàudia Serrano Colomé!
Transcription start sites experience a high influx of heritable variants fueled by early development - Nature Communications
The impact of transcription on germline mutagenesis remains poorly understood. Here, the authors identify a mutational hotspot at transcription start sites in the human germline that is significantly ...
www.nature.com
I am very pleased to see our work, in which we describe a mutational hotspot at transcription start sites in the human germline, out:
www.nature.com/articles/s41...
Great work from @castellanoed.bsky.social, @vseplyarskiy.bsky.social, Miguel Cortés Guzmán and Clàudia Serrano Colomé!
Transcription start sites experience a high influx of heritable variants fueled by early development - Nature Communications
The impact of transcription on germline mutagenesis remains poorly understood. Here, the authors identify a mutational hotspot at transcription start sites in the human germline that is significantly ...
www.nature.com
December 1, 2025 at 1:35 PM
Reposted by Donate Weghorn
Our paper on clonal expansions in Sperm is out in Nature www.nature.com/articles/s41...
If you are interested in working at an intersection of Mendelian genomics/Population genetics/Clonal expansions +Cancer genetics/ and of course mutagenesis, please rich out about postdoc in my lab
October 8, 2025 at 4:52 PM
Reposted by Donate Weghorn
🦠🧫👩‍⚕️ "Sin la microbiota no podríamos vivir, es esencial para nuestra salud". Puedes recuperar la charla completa con la investigadora y microbióloga @mireiavallesc.bsky.social, y la cirujana Lola de la Puerta en 👉 www.ondacero.es/programas/ju...
February 18, 2025 at 12:09 PM
Very happy to announce our paper on mutational signatures caused by mismatch repair knockouts. We find SBS57 is driven by alignment errors in MMR-deficient cells, experimentally confirm the association of MMR with SBS1 & expose differences between in vitro and in vivo MMR loss: tinyurl.com/ycyprxme
Dissecting DNA-mismatch-repair-driven mutational processes in human cells
Mismatch repair (MMR) is a crucial DNA repair pathway that maintains genomic integrity by correcting replication errors and various forms of DNA damage. MMR deficiency (MMRd) leads to increased mutati...
www.biorxiv.org
February 18, 2025 at 9:26 AM
Did you know that transcription start sites harbor a huge excess of germline variants? Turns out this is driven by (divergent) transcription, mitotic, but not meiotic(!), double-strand breaks and early mosaic variants. Read the full story here: www.biorxiv.org/content/10.1...
Transcription start sites experience a high influx of heritable variants fuelled by early development
Mutations drive evolution and genetic diversity, but the impact of transcription on germline mutagenesis remains poorly understood. Here, we identify a hypermutation phenomenon at transcription start ...
www.biorxiv.org
February 6, 2025 at 9:22 AM
Reposted by Donate Weghorn
🐦 Calling all Early Birds! ​

Hurry up and seize the opportunity to participate in the upcoming ESEB Congress, set in the vibrant city of Barcelona 🌟​

🎟️ Secure now your place at the best possible price 👉🏻 eseb2025.com/registration...

#ESEB2025 #Biology #Evolution #Genomics
February 4, 2025 at 11:24 AM