Sílvia
@scarbonells.bsky.social
🎓Biologist-Biosanitary @Univ. Barcelona
🎓PhD-Molecular Anthropology & PostDoc-Human genetics&disease @Univ. Firenze; Industry PostDoc "Torres Quevedo Grant" @qGenomics; @CRG-Guigo's Lab 🧬Genome annotation. Transcriptomics. lncRNA. LongRead-Seq.
🎓PhD-Molecular Anthropology & PostDoc-Human genetics&disease @Univ. Firenze; Industry PostDoc "Torres Quevedo Grant" @qGenomics; @CRG-Guigo's Lab 🧬Genome annotation. Transcriptomics. lncRNA. LongRead-Seq.
Reposted by Sílvia
We want to thank everyone 👩🔬 involved in this work: @pclavell.bsky.social, @fairlie.bsky.social, @scarbonells.bsky.social, @fdegalez.bsky.social, Carme Arnan, @oliveroswinona.bsky.social, @rodericguigo.bsky.social, @martamele.bsky.social as well as the institutions: @bsc-cns.bsky.social, @crg.eu ✨
March 20, 2025 at 1:20 PM
We want to thank everyone 👩🔬 involved in this work: @pclavell.bsky.social, @fairlie.bsky.social, @scarbonells.bsky.social, @fdegalez.bsky.social, Carme Arnan, @oliveroswinona.bsky.social, @rodericguigo.bsky.social, @martamele.bsky.social as well as the institutions: @bsc-cns.bsky.social, @crg.eu ✨
Reposted by Sílvia
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!
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 2:51 PM
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!