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Marta Melé @martamele.bsky.social · Mar 20

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

Melé Lab @melelab.bsky.social · Mar 20

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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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...

www.biorxiv.org

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Reposted by Marta Melé

Fran Rodriguez-Algarra @franrodalg.bsky.social · Jan 21

🚨New review paper alert!🚨
At the @rakyanlab.bsky.social, we have summarised what is currently known about genetic variation within the human ribosomal DNA and its potential consequences. Check it out if you are curious!!! Plenty of intriguing possibilities 😊
onlinelibrary.wiley.com/doi/10.1002/...

Assessing Human Ribosomal DNA Variation and Its Association With Phenotypic Outcomes

Genetic variation within the multi-copy, multi-locus ribosomal DNA (rDNA) can contribute to human complex trait variability. This variation takes the form of copy number, structural arrangement, and ....

onlinelibrary.wiley.com

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Marta Melé @martamele.bsky.social · Jan 16

Congratulations @timcoorens.bsky.social and everyone involved!! This is an unprecedented opportunity to study development in human and non-human primates indeed

Tim Coorens @timcoorens.bsky.social · Jan 15

Our new perspective article describing the human and non-human primate developmental GTEx projects is now out in
@nature.com! We outline the scope, vision, opportunities and challenges of these projects here:
www.nature.com/articles/s41...

The human and non-human primate developmental GTEx projects - Nature

The developmental Genotype-Tissue Expression (dGTEx) projects will catalogue and integrate gene expression, regulation and genetics data across 120 human donors from birth to adulthood with developmen...

www.nature.com

Marta Melé @martamele.bsky.social · Dec 5

Thank you!

Marta Melé @martamele.bsky.social · Dec 5

Hi Paola, I would love to be added! I am a computational biologist and group leader at the Barcelona supercomputing center. We do a lot of work on single-cell transcriptomics mostly focused on understanding aging and sex differences

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Marta Melé @martamele.bsky.social · Nov 22

Hi Roxana, great starter pack! I am a computational biologist and a PI at the Barcelona Supercomputing Center. We work in the genomics field and our lab uses machine learning and AI to study individual variation in health and diseases. Could you add me?

Reposted by Marta Melé

Waggoner Lab @labwaggoner.bsky.social · Nov 19

Single-cell atlas of the human immune system reveals sex-specific dynamics of immunosenescence, including a female-specific cytotoxic CD8+ T cell subpopulation @martamele.bsky.social @mariasopenar.bsky.social
papers.ssrn.com/sol3/papers....

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Marta Melé @martamele.bsky.social · Nov 20

Hi Stephen, great starter pack! could you add me ? I am a group leader in computational biology interested in computational biology and single-cell trancriptomics

Reposted by Marta Melé

Daniel MacArthur @dgmacarthur.bsky.social · Nov 17

The great genomics migration from Twitter to Bluesky has been like watching an ecosystem rebuild itself, and @ericfauman.bsky.social posting causal gene threads here feels like a keystone species has arrived. The world is healing.

Eric Fauman (he/him) @ericfauman.bsky.social · Nov 17

*taps mic*
Is this thing on?

Should we try a "Who's that causal gene?"
🧪

MidJourney image of a woman in a yellow dress with yellow fire hair holding a weight

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Marta Melé @martamele.bsky.social · Nov 18

sorry and thank you!

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Marta Melé @martamele.bsky.social · Nov 18

Hi Grant, great starter pack! I am a computational biologist and a group leader at the Barcelona Supercomputing Center. My lab works on gene regulation and individual variation. Could you please add me?

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Marta Melé @martamele.bsky.social · Nov 18

I Stephen, great starter pack! I am a computational biologist and a group leader at the Barcelona Supercomputing Center interested in gene regulation. Could you add me please?