iiinova — where your digital self keeps evolving

Bernardo Rodríguez Martín @bernardo-rodriguez.bsky.social · 22/09/2026

Wonderful PhD opportunities at a fantastic research institute. Check them out! 👇

Reposted by Bernardo Rodríguez Martín

Emiliano Sotelo @jemilianosf.bsky.social · 11/08/2026

Help us untangle repetitive genomic variants! 🧬 We’re looking for an undergrad/master's intern (4 months, Spring 2027) with Python & Bash skills to map regulatory sequences in structural variants in the Bernardo Rodriguez Martin lab. Details & apply: tinyurl.com/mtkknphc #TEsky

tinyurl.com

Centre for Genomic Regulation Website

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Bernardo Rodríguez Martín @bernardo-rodriguez.bsky.social · 09/06/2026

Don't miss the other excellent contributions in this volume, exploring the roles of TE in ageing, the nervous system, early development, and cutting-edge omics approaches for TE investigation. [5/5]

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Bernardo Rodríguez Martín @bernardo-rodriguez.bsky.social · 09/06/2026

We also integrated data from published studies to map the landscape of somatic L1 mutagenesis across tumor types and stages of tumor evolution, provide a catalogue of reported source L1s, and document driver alterations caused by a variety of TE-mediated mechanisms. [4/5]

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Bernardo Rodríguez Martín @bernardo-rodriguez.bsky.social · 09/06/2026

One aspect I particularly like about this review is its historical perspective. We trace how our understanding of TE in cancer has evolved over the past decades, highlighting the key discoveries that shaped the field. [3/5]

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Bernardo Rodríguez Martín @bernardo-rodriguez.bsky.social · 09/06/2026

What happens when the cellular mechanisms that silence transposable elements (TE) break down? In this review, we discuss how loss of TE control in cancer can trigger extensive somatic mutagenesis, genomic instability, inflammation and other consequences. [2/5]

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Bernardo Rodríguez Martín @bernardo-rodriguez.bsky.social · 09/06/2026

Contribution from the REPBIO team at @crg.eu (Layla Diaz, @jemilianosf.bsky.social, and myself) to the Volume 116 of Advances in Genetics, on Transposable Elements in Health and Disease, edited by @epiageing-lab.bsky.social sciencedirect.com/science/chap... [1/5]

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Reposted by Bernardo Rodríguez Martín

Itai Yanai @itaiyanai.bsky.social · 04/06/2026

Are you a professor / group leader looking for a course to teach that would be extremely welcomed by graduate students & postdocs? Come train with us in how to teach the tools of the creative scientific process in our European train the trainer event in Heidelberg. night-science.org/train-the-tr...

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Bernardo Rodríguez Martín @bernardo-rodriguez.bsky.social · 03/06/2026

📢📢 Job opening between the Bioinformatics Unit and my group (REPBIO) at @crg.eu Interested in contributing to our efforts to leverage long-read sequencing technologies for human genome research? Join us in Barcelona: recruitment.crg.eu/content/jobs... Please repost😊

recruitment.crg.eu

Bioinformatician | CRG Online Recruitment Portal

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Reposted by Bernardo Rodríguez Martín

Centre de Regulació Genòmica (CRG) @crg.eu · 26/11/2025

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.

nature.com

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 ...

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Reposted by Bernardo Rodríguez Martín

Centre de Regulació Genòmica (CRG) @crg.eu · 25/11/2025

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...

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Reposted by Bernardo Rodríguez Martín

Centre de Regulació Genòmica (CRG) @crg.eu · 04/11/2025

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...

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Reposted by Bernardo Rodríguez Martín

Parc de Recerca Biomèdica de Barcelona @prbb.org · 02/11/2025

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

tuit.cat

"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.

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Reposted by Bernardo Rodríguez Martín

Centre de Regulació Genòmica (CRG) @crg.eu · 23/10/2025

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...

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Reposted by Bernardo Rodríguez Martín

EvoMG Program @evomg-bcn.bsky.social · 12/10/2025

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

Bernardo Rodriguez-Martín EvoMG Program, CRG

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Reposted by Bernardo Rodríguez Martín

Earth BioGenome Project 🌍 @ebpgenome.bsky.social · 04/09/2025

🚀🧬🔥 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! 🌍✨

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Reposted by Bernardo Rodríguez Martín

Wellcome Sanger Institute @sangerinstitute.bsky.social · 05/09/2025

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...

sanger.ac.uk

Biological ‘moonshot’ accelerates efforts to genetically map life on earth

A global collaboration that includes experts at the Wellcome Sanger Institute has mapped out the second phase of its ambitious plan to sequence all 1.67 million known species on Earth by 2035.

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Reposted by Bernardo Rodríguez Martín

Itai Yanai @itaiyanai.bsky.social · 19/08/2025

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

podcasts.apple.com

28 | Caroline Bartman and the flash(cards) of inspiration

Podcast Episode · Night Science · 02/13/2023 · 28m

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Bernardo Rodríguez Martín @bernardo-rodriguez.bsky.social · 31/07/2025

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 🙏

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Bernardo Rodríguez Martín @bernardo-rodriguez.bsky.social · 31/07/2025

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]

github.com

GitHub - REPBIO-LAB/SVAN: Structural Variants ANnotator (SVAN)

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

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Bernardo Rodríguez Martín @bernardo-rodriguez.bsky.social · 31/07/2025

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

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Bernardo Rodríguez Martín @bernardo-rodriguez.bsky.social · 31/07/2025

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]

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Bernardo Rodríguez Martín @bernardo-rodriguez.bsky.social · 31/07/2025

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]

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Bernardo Rodríguez Martín @bernardo-rodriguez.bsky.social · 31/07/2025

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]

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Bernardo Rodríguez Martín @bernardo-rodriguez.bsky.social · 31/07/2025

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...

cell.com

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.

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Bernardo Rodríguez Martín @bernardo-rodriguez.bsky.social · 31/07/2025

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/...

science.org

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.

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Bernardo Rodríguez Martín @bernardo-rodriguez.bsky.social · 31/07/2025

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]

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Bernardo Rodríguez Martín @bernardo-rodriguez.bsky.social · 30/07/2025

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

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Reposted by Bernardo Rodríguez Martín

EMBL @embl.org · 29/07/2025

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-...

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

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Reposted by Bernardo Rodríguez Martín

Samarendra Pani @samarendra-pani.bsky.social · 24/07/2025

[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

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Reposted by Bernardo Rodríguez Martín

EMBL @embl.org · 23/07/2025

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...

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Reposted by Bernardo Rodríguez Martín

Centre de Regulació Genòmica (CRG) @crg.eu · 23/07/2025

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.

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