Long-read transcriptomics of a diverse human cohort reveals ancestry bias in gene annotation - Nature Communications Current human gene annotations are predominantly based on individuals of European ancestry. Here, the authors use long-read RNA sequencing across diverse human populations to reveal ancestry-specific ...

Human gene maps contain major blind spots that leaves out a vast majority of the world's biological diversity, according to a new study led by the CRG's @rodericguigo.bsky.social with @bsc-cns.bsky.social. The researchers uncovered tens of thousands of new transcripts and entirely new genes.

📣 Yesterday our study uncovering the ancestry bias in gene annotations was finally published in @natcomms.nature.com!
www.nature.com/articles/s41...

If you work in human genetics or transcriptomics, do not miss our tweetorial!👇

@guigolab.bsky.social @bsc-cns.bsky.social @crg.eu

El mapa de los genes humanos tiene un ‘agujero negro’: “Hemos dejado fuera a gran parte de la humanidad” Investigadores españoles han encontrado más de cuatrocientos posibles nuevos genes que todavía no figuran en los catálogos oficiales porque se construyeron principalmente con datos de individuos de as...

El mapa de los genes humanos tiene un ‘agujero negro’: “Hemos dejado fuera a gran parte de la humanidad”

Great opportunity to work with us!
You get to swim in the mare nostrum while the MareNostrum5 runs your jobs🤣

I am so happy to learn that I won the Early Career Award for an outstanding presentation at the ESHG!!
Thanks to @melelab.bsky.social, @guigolab.bsky.social and to my awesome colleagues that also attended the conference for their support @rubenchazarra.bsky.social @ramirezjmiguel.bsky.social

It's been an absolute pleasure to present my work on long-read transcriptomics in front of such a big audience at the European Conference of Human Genetics @eshg.bsky.social in Milano.
The feedback and the discussion were extremely interesting and useful!

so well deserved! congratulations!!! @pclavell.bsky.social @melelab.bsky.social 🚀⭐️💫

The impact of sex, age, and genetic ancestry on DNA methylation across tissues Background: Understanding the consequences of individual DNA methylation variation is crucial for the study of human biology and disease. However, the collective impact of demographic traits on DNA me...

Excited to share our new preprint: The impact of sex, age, and genetic ancestry on DNA methylation across tissues. Briefly, we explored how sex, age, and genetic ancestry shape DNA methylation across tissues and individuals. Want to know a bit more? Follow this “bluetorial”!
doi.org/10.1101/2025...

📢Menopause affects half the population — yet it's been one of the most overlooked areas in aging research.
We found that aging in the female reproductive system unfolds in unexpected, organ-specific ways. 🔗 www.biorxiv.org/content/10.1...
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This has been a fantastic collaboration with @guigolab.bsky.social and led by @pclavell.bsky.social & @fairlie.bsky.social where we show something we suspected for some time: human gene annotations are European-biased, read this thread to know more about this work @bsc-cns.bsky.social @crg.eu

Thank you Sam!🥰

Finally, thanks to @oliveroswinona.bsky.social and the whole @melelab.bsky.social and GENCODE team at @guigolab.bsky.social that contributed to my training to get all this work done!

Thanks to @fdegalez.bsky.social for his effectiveness and decisive findings on the personal genomes sections and his endless will to contribute to this amazing project!🤩
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Also it has been amazingly engaging to be supervised by two great group leaders at once @martamele.bsky.social @rodericguigo.bsky.social throughout the project. Thanks a lot!
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One of the best experiences of this project is to get to do science in a team, where ideas and deeper insights truly make the difference! Most of it was a duo journey with @fairlie.bsky.social whose work, expertise and support has been pivotal to get such a paper in so "little" time. Thanks a lot!
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I never thought that I would wear again the lab coat 🥼 but I did it to sequence RNA with @nanoporetech.com at @guigolab.bsky.social . Thanks to @scarbonells.bsky.social , Carme and Zighi for their great teachings and patience in the wetlab. They definitely have solutions for everything!

So excited about showing our work (@fairlie.bsky.social) to the world!!

Do not miss this thread with the main findings of our Long-Read Transcriptomics project on a Population-Diverse Cohort🤩

Long-read transcriptomics of a diverse human cohort reveals widespread ancestry bias in gene annotation Accurate gene annotations are fundamental for interpreting genetic variation, cellular function, and disease mechanisms. However, current human gene annotations are largely derived from transcriptomic...

Do you work in 💫human genetics💫?
Have you ever worried about what’s inside your gene annotation GTF⁉️

WELL, YOU SHOULD! 😱
Especially when studying a genetically diverse 🌍 cohort!

🔴We discover that gene annotations are European-biased 👉 impacting downstream analyses!

Don't miss this thread🧵⬇️
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I am SO EXCITED about this! An incredible amount of work from two brilliant people. I believe a bluetorial is on the way, stay tuned! 💜 @fairlie.bsky.social @pclavell.bsky.social @melelab.bsky.social @guigolab.bsky.social

Long-read transcriptomics of a diverse human cohort reveals widespread ancestry bias in gene annotation www.biorxiv.org/content/10.1101/2025.03....

Excited to present my latest results from my PhD project about long-read transcriptomics at Jornades de Bioinformàtica i Genòmica by @scb.iec.cat
Stay tuned as in the following months @fairlie.bsky.social and I will be unveiling an exciting discovery from a human population-diverse perspective!