Donate Weghorn
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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
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
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! ​

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February 4, 2025 at 11:24 AM