Marta Melé
@martamele.bsky.social
computational biologist and Group Leader of the Trascriptomics and Functional Genomics Lab at the Barcelona Supercomputing Center
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
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🧵⬇️
1/13
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🧵⬇️
1/13
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
March 20, 2025 at 3:23 PM
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
Reposted by Marta Melé
🚨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/...
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
January 21, 2025 at 7:39 AM
🚨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/...
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/...
Congratulations @timcoorens.bsky.social and everyone involved!! This is an unprecedented opportunity to study development in human and non-human primates indeed
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
January 16, 2025 at 6:08 AM
Congratulations @timcoorens.bsky.social and everyone involved!! This is an unprecedented opportunity to study development in human and non-human primates indeed
Reposted by Marta Melé
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....
papers.ssrn.com/sol3/papers....
November 19, 2024 at 5:04 PM
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....
papers.ssrn.com/sol3/papers....
Reposted by Marta Melé
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.
*taps mic*
Is this thing on?
Should we try a "Who's that causal gene?"
🧪
Is this thing on?
Should we try a "Who's that causal gene?"
🧪
November 17, 2024 at 10:18 PM
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.