Emiliano Sotelo

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...

Participate in the Bioconductor community by sharing your work in a meeting designed to maximize interactivity and productivity at the seafront of Barcelona! 👩‍💻🏖️🧬 #EuroBiocC2025

EuroBioC2025 hex sticker design featuring the Sagrada Família in the centre, vibrant mosaic patterns inspired by Park Güell at the bottom, and other Barcelona landmarks like the crane and towers. The Bioconductor logo replaces the "i" in "BioC", and "bioconductor.org" is written across the top left. The overall shape is a yellow-bordered hexagon.

🎉 Announcing the EuroBioC2025 Sticker Winner!

🏆 Chaima Hkimi’s design features the Sagrada Família, Park Güell colours, and a nod to Bioconductor in the text. Pick up the sticker at #EuroBioC2025!

#Bioconductor #Bioinformatics #RStats #StickerContest

"We should include eugenics in our undergraduate classes, reminding students that scientists must speak out when others lie about science and use it to further their political views," says professor @peiferlabunc.bsky.social.

www.cell.com/trends/genet...

@cp-trendsgenetics.bsky.social

Newly published in Genetics:
academic.oup.com/genetics/adv...
We ask what gene flow & introgression do to gene coexpression networks. The answer is: a lot.

Polymorphic transposable elements contribute to variation in recombination landscapes (drosohila 🪰) www.pnas.org/doi/full/10.... #TEsky

GitHub - yangao07/longcallD: A local-haplotagging-based small and structural variant caller A local-haplotagging-based small and structural variant caller - yangao07/longcallD

longcallD is a new variant caller for genomic long reads. It jointly calls phased small and structural variants. Single binary, one command line for the whole process. Comparable accuracy to mainstream callers. Great work by Yan Gao. github.com/yangao07/lon...

The domesticated transposon protein L1TD1 associates with its ancestor L1 ORF1p to promote LINE-1 retrotransposition DNA hypomethylation in human tumor cells results in the activation of the LINE-1-derived RNA-binding protein L1TD1 and its interactions with LINE-1 transposons.

#TEsky The domesticated transposon protein L1TD1 associates with its ancestor L1 ORF1p to promote LINE-1 retrotransposition doi.org/10.7554/eLif...

Naturally occurring variation in gene-associated transposable elements impacts gene expression and phenotypic diversity in woodland strawberry Transposable elements (TEs) constitute a major portion of plant genomes and play key roles in shaping genome architecture, regulating gene expression, and driving genome evolution. In this study, we g...

Does the smell and flavor of strawberries depend on variations in gene-associated transposons? It seems so! Check out our new preprint! www.biorxiv.org/content/10.1...

The latent cis-regulatory potential of mobile DNA Transposable elements can alter gene regulation in their host genome, either when they integrate into a genome, or when they accrue mutations after integration. However, the extent to which transposon...

Sending our manuscript back to review after getting some great constructive feedback!

Read here to see how random mutations in transposons can create new promoters. Any feedback is, of course, much appreciated.

www.biorxiv.org/content/10.1...

Drosophila follicle showing retrotransposons (pink & yellow) expressed in somatic cells infecting the oocyte

1/ Transposable elements are often called "jumping genes" because they mobilize within genomes. 🧬
But did you know they can also jump 𝘣𝘦𝘵𝘸𝘦𝘦𝘯 cells? 🤯
Our new study reveals how retrotransposons invade the germline directly from somatic cells.
www.biorxiv.org/content/10.1...
A short thread 🧵👇