Group leader at the Centre for Genomic Regulation (CRG), Barcelona, Spain. Interested in cancer evolution and human population genetics.
Joined January 2020
- Tweets87
- Following156
- Followers375
- Likes148
Pinned Tweet
Mutation rate ≠ functional constraint.
Happy to see our @AJHGNews 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.
sciencedirect.com/science/ar…
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/j…
recruitment.crg.eu/content/j…
Here is the long-form interview explainer of our paper (nature.com/articles/s41...) on Evolution Soup. Thanks to Mark Torrender for his incredible outreach work bringing science to the public!
This Post is from a suspended account. Learn more
I am very pleased to see our work, in which we describe a mutational hotspot at transcription start sites in the human germline, out:
nature.com/articles/s41467-0…
Great work from David Castellano, Miguel Cortés Guzmán, Clàudia Serrano Colomé and Vladimir Seplyarskiy!
Donate Weghorn retweeted
Very proud of @BobbyBentham and his excellent new tool…we’ve been working on this for a while, very much hope it’ll be useful.
🚀 Our paper introducing ImmuneLENS, a new tool that measures T and B cell fractions from WGS data. This builds on our previous method, T cell ExTRECT, that used a signal from V(D)J recombination to measure T cells. Out today in @NatureGenet
doi.org/10.1038/s41588-025-0…
🧵👇
Very happy to announce our paper on mutational signatures caused by MMR knockouts. We find SBS57 is driven by alignment errors in MMR-deficient cells, experimentally confirm the MMR link with SBS1 & show differences between in vitro and in vivo MMR loss: tinyurl.com/ycyprxme
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: biorxiv.org/content/10.1101/…
Donate Weghorn retweeted
New paper from our lab is now published. About #p53 inducible genomic stability regulator RNF144B, led by PhD student @AbadEtna @UPFbiomed. Thanks to all coauthors, collab @SaraSdelci @weghornlab,funds @CaixaResearch @ContraCancerEs @AgEInves👇jeccr.biomedcentral.com/arti…
#Aneuploidy
Donate Weghorn retweeted
Excited to finally have this preprinted: Deep indel mutagenesis reveals the regulatory and modulatory architecture of alternative exon splicing by @pbcenturion and many. @CRGenomica @sangerinstitute biorxiv.org/content/10.1101/…
Donate Weghorn retweeted
Finally published. In this paper we showed that despite heterozygous exonuclease deficiency of pold1 has a minor effect on the germline and somatic mutation rate. Homozygous deficiency increase mutation rate by 2 orders of magnitude and causes cancer nature.com/articles/s41431-0…
Our preprint about the role of POLD1 deficiency in soma and germline mutations is out. biorxiv.org/content/10.1101/…
Two main findings: surprisingly, POLD1 deficiency has a recessive effect on mutation rate; POLD1 alters mutational spectra to the same degree in soma and sperm
Donate Weghorn retweeted
We are looking for Independent Faculty to join the @BCNCollab @CRGenomica @CRMatematica in AI/ML, Mathematical Biology, Modelling. Great opportunity for independence at an early career stage. Includes funding for a PhD student. Deadline 31Jan. pls RT
crm-jobsboard.kenjo.io/Indep…
Donate Weghorn retweeted
🔬👩🏿💻 For a PhD, choosing right is not only about research, it’s also about the people and the location, and we have it all!
➡️Apply for a fully funded PhD fellowship at #CRG in Barcelona, 17 PhD positions available!
👉🏿 tinyurl.com/CRGPhD24
In this fun collaboration with the excellent people from the Berg lab, using two tumors with high-resolution sampling, we found that tumor growth takes place throughout the tumor volume rather than just at the surface:
biorxiv.org/content/10.1101/…
Have you, like us, ever been frustrated with mutational signature refitting results on samples with few mutations? Then you may find our new algorithm, SigNet, useful: biorxiv.org/content/10.1101/…
Donate Weghorn retweeted
Do you enjoy approaching complex phenomena with models and maths?
I am looking for a PhD Student:
➡️ exciting science: modelling variation & evolution
➡️ excellent environment @BCNCollab @CRGenomica
➡️ lnkd.in/e66VT6J3
Please retweet.
Donate Weghorn retweeted
Happy to share our work exploring the role of A/T-ending codons across species, tissues, development, gene families and protein complexes🧬🦧🧠
👉bit.ly/cellsystems
@CRGenomica @lab_serrano with @mirimiam @weghornlab @MartinHSchaefer
#codonusage #rasgenes @CellSystemsCP
Donate Weghorn retweeted
We extend the Walsh-Hadamard transform to accommodate multiallelic genetic landscapes & show this new theory enables the inference of models that reflect biological mechanisms even when data is scarse w/ @BenLehner @VeroMiro1 Claudia Serrano @weghornlab biorxiv.org/content/10.1101/…
Donate Weghorn retweeted
💥Apply for a PhD at #CRG!
Join a center of excellence with teams representing a broad range of disciplines, 1st class core technologies, high-profile seminars & a comprehensive training programme #PhDCRG23
We offer 14 fully funded #PhD fellowships: bit.ly/PhD23
⬇️⬇️
Donate Weghorn retweeted
Very excited to share that I recently started my lab in @CompOncMSK at @MSKCancerCenter!
Looking for postdocs and graduate students interested in cell fate decisions/cancer evolution/computational single-cell genomics. Come join us in NYC!
Spread the word & please #RT. Thanks!
Donate Weghorn retweeted
Our preprint about the role of POLD1 deficiency in soma and germline mutations is out. biorxiv.org/content/10.1101/…
Two main findings: surprisingly, POLD1 deficiency has a recessive effect on mutation rate; POLD1 alters mutational spectra to the same degree in soma and sperm