Mutation rate ≠ functional constraint. Happy to see our @ajhgnews.bsky.social paper out, in which we show that mutation-rate heterogeneity systematically biases variant effect predictors. At the same time, DMS data reveal genuine mutational robustness. Check it out here: doi.org/10.1016/j.aj...

We have two open positions to work on modeling and analysis of cancer sequencing data. If you are interested, check out the links below or write me an email: recruitment.crg.eu/content/jobs... recruitment.crg.eu/content/jobs...

Here is the long-form interview explainer of our paper (www.nature.com/articles/s41...) on Evolution Soup. Thanks to Mark Torrender for his incredible outreach work bringing science to the public!

Evolution Soup@evolutionsoup.bsky.social · 7mo ago

✨NEW INTERVIEW ✨ YOUR DNA'S FATAL FLAW ~ The Mutation Hotspot - with DR DONATE WEGHORN @weghornlab.bsky.social @seekingluca.bsky.social @joannamasel.bsky.social #evolutionsoup #evolution #genetics #science #fossils 👇🏿👇🏽 youtu.be/KOYaXlfTUP4

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 ...

nature.com

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

Hotspots of human mutation point to clonal expansions in spermatogonia - Nature

A systematic statistical genetics approach discovers CES drivers as hotspots of human de novo mutation and shows that clonal expansions in germline may both modulate the prevalence of disorders and lead to false-positive disease associations.

nature.com

Vladimir (Vova) Seplyarskiy@vseplyarskiy.bsky.social · 2y ago

Excited to share our preprint: Cohort-level analysis of human de novo mutations points to drivers of clonal expansion in spermatogonia! We developed methods to uncover drivers of clonal expansions in sperm (CES) using 55k disease trios & gnomAD SNV data. www.medrxiv.org/content/10.1...

🦠🧫👩‍⚕️ "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...

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...

biorxiv.org

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 ...

biorxiv.org

🐦 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