Thrilled to present our comparative study on the evolution of zygotic genome activation (ZGA)!! 🥚🧬

Amazing PhD work of @campobes.bsky.social together with @fedemantica.bsky.social and many collaborators! @melisupf.bsky.social @crg.eu. Thread below 1/15

www.biorxiv.org/content/10.6...

Recursive Repeat Extender (RRE): A recursive approach to automatically extend repeat element models www.biorxiv.org/content/10.64898/2026.04...

PREPRINT ALERT🚨➡️Genetics influencing #epigenetics: Flanking DNA sequences influence #DNAmethylation maintenance 🧬

It’s been a minute because I needed a media break 🧘🏻‍♂️, but I couldn’t resist popping back for this: We just dropped a new #bioRxiv preprint 😃🤞🏻

BTW I’m looking for (academic) jobs

Concurrent L1 retrotransposition events promote reciprocal translocations in human tumorigenesis LINE-1 (L1) retrotransposition generates somatic genomic variation in human cancer, but short-read sequencing has limited our understanding of its structural consequences and dynamics. Using long-read...

Today in
@science.org:
We are pleased to present our last work entitled:
"Concurrent L1 retrotransposition events promote reciprocal translocations in human tumorigenesis"
by Zumalave et al.
www.science.org/doi/10.1126/...

Nuclear speckles enable processing of RNA from GC-rich isochores Nuclear speckles are key subnuclear structures that regulate gene expression in GC-rich regions. This work shows that the evolution and expansion of core speckle proteins were crucial for the increase...

The function of nuclear speckles is revealed! This is an incredibly important paper with absolutely beautiful data! Wow! www.cell.com/cell/fulltex...

Ancestry and somatic profile indicate acral melanoma origin and prognosis - Nature Analysis of the somatic and transcriptomic profile of 123 acral melanoma samples from Mexican patients helps understand tumour origins and prognosis, and highlights the importance of including samples...

We are very happy to see our study finally appear online @nature.com! This has been work of nearly 10 years in collaboration with the National Institute of Genome Medicine 🇲🇽, the National Cancer Institute 🇲🇽, the @sangerinstitute.bsky.social and others ⬇️

www.nature.com/articles/s41...

How does the piRNA pathway solve the self vs. non-self problem? 🧬

Since piRNAs come from single-stranded RNA, how does the cell choose the right ones? For years, "piRNA clusters" were seen as THE privileged source. But are they really special and earmarked for biogenesis? (1/19)

New paper! From Sam Snodgrass and @genomeofforrest.bsky.social, w/ @druncie.bsky.social, @gcbias.bsky.social, and a collaboration with Andres Moreno and @santiagogmm.bsky.social. Can we quantify the impact of humans on maize dispersal?

Plant yourself in a comfy chair and lend me your ear:

1/10

New preprint from the lab! We identify the ZnF protein Mulberry as a condensation-dependent structural regulator of genome topology that organizes “multi-way regulatory hubs” in early Drosophila embryos.
www.biorxiv.org/content/10.6...

Clinical genetic variation across Hispanic populations in the Mexican Biobank - Nature Medicine Analyzing data of the Mexican Biobank project, a new study finds regional differences in clinically relevant genetic frequencies and presents MexVar, a publicly accessible resource designed to support...

Our paper on clinically relevant genetic variation in the MX Biobank is out today in Nature Medicine! Big congrats to PhD student Carmina Barberena, who led the development of the MexVar platform. A joint effort by Cinvestav, INSP, INCMNSZ, LIIGH, UNAM, and UCSC www.nature.com/articles/s41...

Un model d'IA revoluciona el diagnòstic de malalties minoritàries - El·lipse Investigadors del CRG han col·laborat amb un equip de Harvard per desenvolupar popEVE, una eina d'intel·ligència artificial que ha estat capaç de detectar 123 noves mutacions causants de malalties; 104 d'elles s'han observat només en un o dos pacients.

🧬 Pot una IA predir mutacions perilloses del teu ADN? 

🤖 PopEVE detecta noves mutacions comparant proteïnes humanes amb dades evolutives de milers d’espècies per identificar les que poden causar malalties greus.

@crg.eu 

👀Llegeix-ho aquí.

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 ...

Transcription start sites are new mutational hotspots, according to a new study by the CRG's Donate Weghorn in Nature Communications. The mutations can be passed down to future generations and appear shortly after conception, in the first few rounds of cell division.

Our annual PhD call is closing at the end of this week on 30 November. If you're interested in carrying out world-class scientific research in Barcelona, you still have a few days left to submit your application! www.crg.eu/en/content/t...

Our latest paper has just been published in Cell!

doi.org/10.1016/j.ce...

We developed a new method called MCC ultra, which allows 3D chromatin structure to be visualised with a 1 base pair pixel size.

Applications are open for the @crg_eu PhD Programme! 20 fully funded positions — including one in our group through the Evolutionary Medical Genomics ITN.

Join us to develop deep generative models of cross-species data to tackle open questions in disease genetics.

www.crg.eu/en/content/t...

SMBE2026 - Call for Symposia Proposals

📢 The Call for Symposia for SMBE2026 is now open. We warmly invite you to submit a symposium proposal and help shape the scientific content of our annual meeting.

🗓️ Key dates
Call for symposia: Sep. 1 - Oct. 15
Announcement of accepted symposia: Nov. 3

More information: smbe2026.org/symposia

Columbian mammoth mitogenomes from Mexico uncover the species’ complex evolutionary history Paleogenomic studies suggest that Mammuthus columbi derives from an ancient hybridization between Mammuthus primigenius and Mammuthus trogontherii. While its habitat spanned from North to Central Amer...

Thrilled to share our study sequencing genetic data from tropical mammoths 🏝️🦣. First DNA recovered from Columbian mammoths southern than USA shorturl.at/xjIvy. Thanks to all collaborators, you were key to this success! See below a fantastic note covering the paper by the great @rpocisv.bsky.social 👇

a 3d rendering of a colorful dna molecule with a black background ALT: a 3d rendering of a colorful dna molecule with a black background

Happy #RNA Day everyone!!! 🎉🎉🎉

#AUG1st #RNASky

DNA mutagenesis driven by transcription factor competition with mismatch repair Competition between transcription factors and mismatch repair machinery drives localized hypermutation at regulatory elements, with implications for cancer and genome evolution.

'Here, we show that transcription factor (TF) proteins, key players in gene regulation, can increase mutagenesis from replication errors by directly competing with the recognition of DNA mismatches by MutSα, the primary initiator of eukaryotic mismatch repair'
www.cell.com/cell/abstrac...

[1/8] *New Open-Access Long Read Resource*. We sequenced 1,019 genomes from the 1000 Genomes Project sample cohort using @nanoporetech.com long-read sequencing (LRS) to median 17x coverage. Publication at go.nature.com/4ffPb8f.

@hhu.de @crg.eu @embl.org @impvienna.bsky.social

Complex genetic variation in nearly complete human genomes - Nature Using sequencing and haplotype-resolved assembly of 65 diverse human genomes, complex regions including the major histocompatibility complex and centromeres are analysed.

Two papers in today's issue of @nature.com ‬: 1) we assemble 65 genomes to near completion, including centromeres and the MHC. tinyurl.com/3huhax6w. 2) we sequence 1,019 genomes from the 1kGP with long reads, revealing SVs down to low allele frequencies tinyurl.com/wbx3we9x.

Structural variation in 1,019 diverse humans based on long-read sequencing - Nature Intermediate-coverage long-read sequencing in 1,019 diverse humans from the 1000 Genomes Project, representing 26 populations, enables the generation of comprehensive population-scale structural varia...

Researchers have significantly expanded the catalogue of known human genetic variation. Two studies in @nature.com resequenced data from the landmark 1000 Genomes Project with long-read tech, creating what may be the most complete overview of the human genome to date. www.nature.com/articles/s41...

Over 1,000 human genomes sequenced using long-read tech—Siegfried Schloissnig, computer scientist at the IMP, shares how it happened, key findings, and what it means for the future of genomics: www.imp.ac.at/news/article...

➡️Read the paper here: www.nature.com/articles/s41...

Speaker presenting at SMBE 2025 meeting

Listening to former #RegRNALab member (now in the Moreno Lab) Jose Antonio Corona, presenting the #LatinCells project,seeking to characterise the genetic diversity of immune cells. Lots of extreme field work done for sampling indigenous populations across Latin America! 🌎

#SMBE2025

MexOMICs Maps the Genetic and Social Landscape of Disease in Mexico By focusing on twins and patients with lupus and Parkinson’s disease, a Mexican consortium is generating critical data to understand health and disease in the country.

Thanks @lecteroide.bsky.social for the opportunity to share the efforts developed in MexOmics

www.the-scientist.com/mexomics-map...

Barbara McClintock portrait

🧬🌽 Happy Transposon Day! 🌽🧬

Today we celebrate the birthday of Barbara McClintock - scientist extraordinaire and discoverer of jumping genes. Still the only woman to have an unshared Nobel Prize in the biomedical sciences #TransposonDay2025

VFB works closely with the FlyBase team and we rely on their hard work to provide many of our features. Due to the current funding situation at FlyBase (flybase.org), we encourage our users to donate and help maintain this essential resource.

Check out our new preprint!
How can we get more out of existing protein/genome language models without retraining them?

A 🧵 to walk those interested through this paper...

Chromatin loops are an ancestral hallmark of the animal regulatory genome - Nature The physical organization of the genome in non-bilaterian animals and their closest unicellular relatives is characterized; comparative analysis shows chromatin looping is a conserved feature of ...

I’m very excited to share our work on the early evolution of animal regulatory genome architecture - the main project of my postdoc, carried out across two wonderful and inspirational labs of @arnausebe.bsky.social and @mamartirenom.bsky.social. www.nature.com/articles/s41...