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
30.05.2025 10:56 — 👍 3 🔁 2 💬 0 📌 0
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!
30.05.2025 10:55 — 👍 2 🔁 1 💬 0 📌 1
so well deserved! congratulations!!! @pclavell.bsky.social @melelab.bsky.social 🚀⭐️💫
27.05.2025 19:14 — 👍 3 🔁 2 💬 0 📌 0
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...
05.05.2025 15:44 — 👍 10 🔁 5 💬 1 📌 1
📢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...
1/8🧵
23.05.2025 14:19 — 👍 9 🔁 3 💬 1 📌 2
🥰
21.03.2025 15:38 — 👍 0 🔁 0 💬 0 📌 0
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
20.03.2025 15:23 — 👍 9 🔁 2 💬 0 📌 0
Thank you Sam!🥰
20.03.2025 16:29 — 👍 1 🔁 0 💬 0 📌 0
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!
20.03.2025 16:29 — 👍 3 🔁 0 💬 1 📌 0
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!🤩
3️⃣
20.03.2025 16:29 — 👍 1 🔁 0 💬 1 📌 0
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!
2️⃣
20.03.2025 16:29 — 👍 2 🔁 1 💬 1 📌 0
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!
1️⃣
20.03.2025 16:29 — 👍 6 🔁 0 💬 1 📌 0
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!
20.03.2025 14:51 — 👍 5 🔁 2 💬 0 📌 0
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🤩
20.03.2025 14:46 — 👍 4 🔁 0 💬 0 📌 0
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🧵⬇️
1/13
20.03.2025 13:20 — 👍 30 🔁 13 💬 4 📌 8
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
18.03.2025 09:38 — 👍 9 🔁 2 💬 1 📌 0
Long-read transcriptomics of a diverse human cohort reveals widespread ancestry bias in gene annotation https://www.biorxiv.org/content/10.1101/2025.03.14.643250v1
17.03.2025 19:34 — 👍 10 🔁 5 💬 0 📌 1
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!
13.12.2024 19:48 — 👍 6 🔁 1 💬 0 📌 0
Systems engineer turned bioinformatician 👩🏻💻 Biomedical Sciences PhD at @bsc-cns.bsky.social and @ub.edu. Open Science 🌱 useGalaxy ✨ Federated Learning 🧮 Also 🎮📚🏊🏻♀️🧘🏻📸
Blizard Institute, QMUL, London. Working on inter-individual genetic and epigenetic variation of mammalian ribosomal DNA.
PhD student @NovoaLab @CRGenomica |Wet-Lab 🔁 Dry-Lab | RNA modifications | Method Development 🧬⚒
🎓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.
Computational cancer biology. #bioinformatics, #CancerGenomics. Interested in subtypes of #ColorectalCancer and chromosomal instability @oncology.ox.ac.uk 🧬 Previously @uoe-igc.bsky.social @roslininstitute.bsky.social @ESA.int @CERN.bsky.social 🏴🇪🇺 he/him
ICREA Research Professor at IRB Barcelona. Working on computational cancer genomics. Leading @bbglab.bsky.social
http://bbglab.irbbarcelona.org
News from the Genomics of Gene Expression Lab at
@i2sysbio.bsky.social @elcsic.bsky.social. Led by @anaconesa.bsky.social
Bioinformatics Programmer at @ucscgenomics.bsky.social working on #pangenomics.
http://orcid.org/0000-0001-5828-047X
Associate professor at Universitat de Barcelona.
Studying post transcriptional regulation in single cells and Alzheimer's Disease. iPSCs, gene regulatory networks, bioinformatics, systems biology
https://www.plasslab.com/
Biochemist, with extensive experience in cancer research and biomarker strategy/discovery in both the pharmaceutical and academic sectors. Opinions are on my own.
Functional Genomics Team Leader @CNAG 🧬💻🔎 omics, rare diseases, single-cell, long-reads, transposons.
Research scientist. I like algorithms, bioinformatics, computer science, and HPC.
Computational biologist interested in gene expression regulation.
Associate Director and Group Leader at Norwegian Centre for Molecular Biosciences and Medicine, University of Oslo, Nordic EMBL Partnership for Molecular Medicine.
https://mathelierlab.com
Looking at genomes with 3D glasses as member of the http://marciuslab.org.
President of @SCB.iec.cat
Proud member of ICREA.
Happy at @CNAG-eu.bsky.social and @CRG.eu in Barcelona.
#4DNucleome #3Dgenomics #microbiome #biogeography
Prof of Evolutionary Neurobiology and Behaviour at the University of Bristol, Research Associate at STRI, AE at Proc Roy Soc B and J Evol Biol. I like brains. Rejoin 🇪🇺
www.shmontgomery.co.uk
Bioinformatics, Comp biol, cancer genomes, text mining, strucutral bioinfo. but also: Science publishing, science policy, genome & ethics, science & art
Tenured Researcher on Computational Systems Biology
Institute for Integrative Systems Biology (@i2sysbio.bsky.social), @csic.es
visitor at @bsc-cns.bsky.social, @alfonsovalencia.bsky.social team
also at @arnaumontagud@fediscience.org
Evolutionary biologist | Head of the Evolutionary developmental biology lab @thecrick.bsky.social | Books, books, books!
PhD student in bioinformatics
