Bernardo Rodríguez Martín

@bernardo-rodriguez.bsky.social

Team Leader & Independent Fellow at the @crg.eu At the Repetitive DNA Biology (REPBIO) Lab, we leverage the latest technologies to decode nucleotide sequences for investigating how repetitive DNA shapes genome function and contributes to disease.

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.

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 ...

nature.com

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

"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.

tuit.cat

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...

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.

sanger.ac.uk

Earth BioGenome Project 🌍@ebpgenome.bsky.social · 12mo ago

🚀🧬🔥 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! 🌍✨

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]

Samarendra Pani@samarendra-pani.bsky.social · last yr.

[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...

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