Bernardo Rodríguez Martín

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...

Thinking about doing a PhD with us? We're running an online Q&A session just for you! Hear practical advice directly from our experts in the Training and Academic Office and register here: events.teams.microsoft.com/event/26a7dc...

"Meet the companies": a chance to boost your career - El·lipse In this yearly event, PRBB residents get to know professional opportunities beyond academia through informal conversations with companies on a wide range of areas in the biomedical and biotech sector.

All set for "Meet the Companies"❗️

A unique gathering connects PRBB residents with a dozen leading companies in diagnostics, gene editing, venture capital, patent law, scientific management, communication and citizen science.

🗓️4 November, 15h
ℹ️

Are you looking for a PhD? Join us in Barcelona! You'll dive into a community of >100 PhD students from 30 countries exploring the frontiers of biology. You can also join an online workshop on 6 November (15:00 CET) to learn how to find the right lab for you.

More info: www.crg.eu/en/content/t...

A cGAS-mediated mechanism in naked mole-rats potentiates DNA repair and delays aging Efficient DNA repair might make possible the longevity of naked mole-rats. However, whether they have distinctive mechanisms to optimize functions of DNA repair suppressors is unclear. We find that na...

The secret to the naked mole-rats’ extraordinarily long life may lie in subtle changes to just four amino acids, researchers report in Science. https://scim.ag/3IUquTb

Bernardo Rodriguez-Martín EvoMG Program, CRG

Next was Bernardo Rodriguez-Martín ( @bernardo-rodriguez.bsky.social ), from the EvoMG Program and @crg.eu, on highly mutagenic (hot) L1 polymorphisms in cancer

🚀🧬🔥 Hot off the press — 2025!
Don’t miss this must-read publication: bit.ly/4mJwFb7

This groundbreaking paper sets the stage for Earth BioGenome Project Phase II — where EBP is gearing up to scale genome sequencing 10× faster than ever before! 🌍✨

We are excited that the Earth BioGenome Project, a global network of scientists including those from the Sanger Institute, has mapped the second phase of its ambitious plan to sequence all 1.67 million known species on Earth by 2035. 👏

www.sanger.ac.uk/news_item/bi...

28 | Caroline Bartman and the flash(cards) of inspiration Podcast Episode · Night Science · 02/13/2023 · 28m

A great thing about working in a lab is being involved in lab meetings and witnessing everyone's projects take shape. A single project may seem to go slow but all projects together is impressive. Caroline Bartman discussed this on the podcast:
podcasts.apple.com/us/podcast/2... @cbartman.bsky.social

Thanks to the huge contributions from all the co-authors of this large effort, who are listed in the main thread, and to the reviewers, whose thoughtful feedback served to greatly improve the manuscript since its initial submission 🙏

GitHub - REPBIO-LAB/SVAN: Structural Variants ANnotator (SVAN) Structural Variants ANnotator (SVAN). Contribute to REPBIO-LAB/SVAN development by creating an account on GitHub.

These insights were largely possible thanks to SVAN (github.com/REPBIO-LAB/S...). While many tools call SVs, none systematically analyse their sequences to infer mechanisms. SVAN fills this gap by taking a VCF from your favourite SV caller and adding annotations of SV classes and features [9/9]

We identified 10 HERVK, 7 of them not previously reported, and 28 solo-long terminal repeats (LTRs) [7/9]

Transduction tracing uncovers locus-specific patterns in source L1 and SVA elements. While most L1s mediate only 3′ transductions, some SVAs show 5′ or 3′ specificity. A striking exception: one highly active L1 uses promoter hijacking to drive 5′ transductions. [6/9]

We observed large sequence diversity among L1 and SVA inserts, with dozens of structural conformations shaped by their integration mechanisms and transductions. SVA elements show a broad size range, largely driven by variability in their internal hexameric and VNTR repeats. [5/9]

Our new study scales up to the population level: we sequenced 1,019 human genomes with ONT, resolving the sequence of 23,212 Alu, 4,851 L1, and 3,239 SVA insertions, a gain of +20% (Alu), +166% (L1), and +179% (SVA) over short-read analysis of the same samples. [4/9]

Recurrent inversion polymorphisms in humans associate with genetic instability and genomic disorders Large-scale analysis of haplotype-resolved inversions in human genomes unveils recurrent inversion polymorphisms and their disease relevance.

Refreshment of Chapter 2: “Twin priming”.

Microhomology patterns observed at 5´ inversion and truncation breakpoint junctions for 1.271 L1 insertions point to MMEJ. We also found three templated insertions, suggestive of polymerase theta. [3/9]

www.cell.com/cell/fulltex...

Haplotype-resolved diverse human genomes and integrated analysis of structural variation Human genetic variation is elucidated from de novo assembly of 32 genomes selected as representatives of the 1000 Genomes Project.

Refreshment of Chapter 1: “Hot L1s, age and coding potential”.

MEI analysis on 32 haplotype-resolved human genomes. Older L1s have higher allele frequencies, lower ORF preservation and are therefore less active, but eternal youth can occur [2/9]

www.science.org/doi/10.1126/...

Sequence-resolved mobile element sagas, Chapter 3: “MEI at population scale”

This work closes our trilogy on MEI research advances enabled by long-read sequencing. Bonus tutorial about MEI of our structural variation study of 1KGP samples resequenced using @nanoporetech.com [1/9]

Congratulations to all awardees with a #PID2024!! 🥳 extremely happy and thrilled to share our project proposal (L1-CANPREDICT) got funded. Keep tuned about the research to come from REPBIO at @crg.eu

A man is smiling. Colourful houses of Gamla Stan are visible in the background.

Travel broadens the mind – an excellent example of that is EMBL ARISE Fellow Thomas Weber, who expanded his data science skills during his secondment at @scilifelab.se.

👇 Read the full story about his journey and the impact of his ARISE Fellowship.

www.embl.org/news/people-...

[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

EMBL researchers and their collaborators have provided exciting new insights into human genetic variation by building upon the 1000 Genomes Project dataset.

The two studies constitute what may be the most complete overview of the human genome to date.

www.embl.org/news/science...

The first, co-authored by @bernardo-rodriguez.bsky.social, discovered more than 167,000 structural variants across the 1,019 individuals, doubling the known amount of structural variation in the human pangenome. Most variants were rare, which will help accelerate the diagnosis of rare diseases.