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Anna Esteve Codina

@annaesteveco.bsky.social
323 followers 745 following 13 posts

Functional Genomics Team Leader @CNAG 🧬💻🔎 omics, rare diseases, single-cell, long-reads, transposons.

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Reposted by Anna Esteve Codina
CNAG @cnag-eu.bsky.social · 22/12/2025
🗣️Last week, our PhD student @tmontsay.bsky.social presented at the XIII Jornada de Bioinformàtica i Genòmica on “HERVarium: A unified resource for protein-domain and regulatory annotation of human endogenous retroviruses” 👉Organised by @scb.iec.cat & Bioinformatics Barcelona #Events #Genomics #CNAG
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Reposted by Anna Esteve Codina
CNAG @cnag-eu.bsky.social · 06/11/2025
🌍Yesterday, our PhD student @tmontsay.bsky.social from the Functional Genomics Team presented his poster at #EMBOMobileGenome on 'A Comprehensive Annotation of Conserved Protein Domains in Human Endogenous Retroviruses' 🙌 Excellent work and insightful discussions! @annaesteveco.bsky.social #CNAG
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Reposted by Anna Esteve Codina
CNAG @cnag-eu.bsky.social · 16/10/2025
🚨Webinar alert! Today, our Functional Genomics Team Leader, @annaesteveco.bsky.social, will discuss the value of RNA-seq & long-read genome and methylome data in rare disease diagnosis 🗓️ 11:00 CEST rwth.zoom.us/meeting/regi... By Next Generation Sequencing Competence Network #RareDiseases
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Reposted by Anna Esteve Codina
CNAG @cnag-eu.bsky.social · 09/09/2025
📢 New paper out in @natgenet.nature.com! ✨ CNAG coordinates the Solvathons, a groundbreaking pan-European initiative for rare disease diagnosis Solve-RD launched these interdisciplinary workshops, which have led to over 100 new diagnoses for rare disease families 🔗 www.cnag.eu/news/cnag-co...
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CNAG @cnag-eu.bsky.social · 01/08/2025
🌍 Today is World RNA Day! Discover with our Functional Genomics Team Leader, @annaesteveco.bsky.social, why RNA is a vital biological key: essential for advancing research in cancer, rare diseases 🌟At CNAG, we study RNA to improve people's health and quality of life #RNADay #RNA #CNAG #Genomics
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Reposted by Anna Esteve Codina
Tomàs Montserrat Ayuso @tmontsay.bsky.social · 31/07/2025
🧵 1/ 🚨 New preprint alert! Excited to share my first PhD paper, supervised by @annaesteveco.bsky.social at @cnag-eu.bsky.social: 📄 A Comprehensive Annotation of Conserved Protein Domains in Human Endogenous Retroviruses 📄 Preprint: www.biorxiv.org/content/10.1... 🧬 Read on for the dataset & code!
biorxiv.org
A Comprehensive Annotation of Conserved Protein Domains in Human Endogenous Retroviruses
Human endogenous retroviruses (HERVs) occupy nearly 8% of the human genome, yet their protein-coding potential remains largely unexplored. Like their exogenous counterparts, HERVs derive from ancestra...
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Reposted by Anna Esteve Codina
CNAG @cnag-eu.bsky.social · 23/06/2025
📢New paper out in Frontiers in Immunology! 🔎A study by IRTA, IRTA-CReSA, @uab.cat and CNAG explores how heat-inactivated bacterium Rothia nasimurium boosts pig macrophage immunity — helping fight major pig viruses, such as PRRSV & ASFV www.frontiersin.org/journals/imm... #Sustainability #CNAG
frontiersin.org
Frontiers | Inactivated Rothia nasimurium promotes a persistent antiviral immune status in porcine alveolar macrophages
Globalization has increased the incidence of infectious diseases in livestock, further aggravated by the reduction of antibiotic usage. To minimize the resul...
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Reposted by Anna Esteve Codina
Ming Tommy Tang @tommytang.bsky.social · 10/06/2025
7/ In Tabula Muris and Tabula Sapiens, MALAT1 expression was tightly correlated with nuclear RNA content and intronic fractions. bmcgenomics.biomedcentral.com/articles/10...
bmcgenomics.biomedcentral.com
High content of nuclei-free low-quality cells in reference single-cell atlases: a call for more stringent quality control using nuclear fraction - BMC Genomics
The advent of droplet-based single-cell RNA-sequencing (scRNA-seq) has dramatically increased data throughput, enabling the release of a diverse array of tissue cell atlases to the public. However, we will show that prominent initiatives such as the Human Cell Atlas [1], the Tabula Sapiens [2] and the Tabula Muris [3] contain a significant amount of contamination products (frequently affecting the whole organ) in their data portals due to suboptimal quality filtering. Our work addresses a critical gap by advocating for more stringent quality filtering, highlighting the imperative for a shift from existing standards, which currently lean towards greater permissiveness. We will show the importance of incorporating cell intronic fraction in quality control -or MALAT1 expression otherwise- showcasing its informative nature and potential to elevate cell atlas data reliability. In summary, here, we unveil the hidden intronic landscape of every tissue and highlight the importance of more rigo
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Reposted by Anna Esteve Codina
CNAG @cnag-eu.bsky.social · 29/05/2025
🌟Still buzzing from #eshg2025! 7,000 attendees from 94 countries gathered in Milan — our CNAG team was spreading the word about our mission: applying genomics to improve health 🙏Thanks to @eshg.bsky.social & all pushing the boundaries of Human Genetics — see you in Gothenburg!🇸🇪 #GenomicsIsInOurDNA
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Reposted by Anna Esteve Codina
CNAG @cnag-eu.bsky.social · 25/05/2025
💪 What a dream team we’ve got at CNAG for #eshg2025 — our super project managers, the Human Genetics and the Functional Genomics Team! 😎And just look how good we look in our new t-shirts… CNAG is giving it all, once again! 📍Find us at booth 382 #GenomicsIsInOurDNA #eshg #milan
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Reposted by Anna Esteve Codina
CNAG @cnag-eu.bsky.social · 26/05/2025
🗣️Impressive talk by our Data Analyst Gemma Bullich at #eshg2025! 🧬“Increased diagnosis rate in rare diseases through iterative re-analysis and multi-omics data integration” (C24.01) 👏 So proud of our Human Genetics team. Well done, Gemma! #Genomics #RareDiseases #MultiOmics #GenomicsIsInOurDNA
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Reposted by Anna Esteve Codina
CNAG @cnag-eu.bsky.social · 27/05/2025
🙌 Really excited about this recognition! Congratulations to our partners from @tum.de — Rebeka Luknárová, Vicente Yépez, and Julien Gagneur — together with our Functional Genomics Team Leader at CNAG, @annaesteveco.bsky.social, and Solve RD #research #eshg2025 #bestposter
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Reposted by Anna Esteve Codina
CNAG @cnag-eu.bsky.social · 27/05/2025
🔥Non-stop on the last day of #eshg2025! 🗣️This morning we joined the oral presentation of our partner Vicente Yepez (Technical University Munich): 'Rare Disease Solvathons – the power of multi-omics data integration' 🙌Truly inspiring work! #RareDiseases #CNAG #GenomicsIsInOurDNA #Research
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Reposted by Anna Esteve Codina
CNAG @cnag-eu.bsky.social · 26/05/2025
📍Don’t miss us at the Sequencing Square, Hall 4! 🗓️Monday, 26 May at 11:00 🧬Our Functional Genomics Team Leader at CNAG, @annaesteveco.bsky.social‬, is presenting the poster “Integrative multi-omics for undiagnosed Rare Diseases (Omics-RD)” #eshg2025 #RareDiseases #GenomicsIsInOurDNA #CNAG
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Reposted by Anna Esteve Codina
CNAG @cnag-eu.bsky.social · 26/05/2025
🧬Great presentation by our Functional Genomics Team Leader, @annaesteveco.bsky.social, at #eshg2025! 🗣️She showcased our work on “Integrative multi-omics for undiagnosed Rare Diseases (Omics-RD)” 👏 Congratulations, Anna, and well done to the team behind this project! #RareDiseases #CNAG
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CNAG @cnag-eu.bsky.social · 24/05/2025
🙌 What a great day! 🧑‍🔬👨‍🔬 Today we had the pleasure of meeting our partners Vicente Yepez (OmicsDiscoveries) and Ana Topf (@newcastleuni.bsky.social) at #eshg2025 — proud to keep advancing rare disease research together! It’s always a pleasure to connect and exchange ideas! #GenomicsIsInOurDNA #CNAG
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Reposted by Anna Esteve Codina
CNAG @cnag-eu.bsky.social · 25/05/2025
📷 Another moment we’re keeping from #eshg2025: Yesterday we had the pleasure of meeting many of our @erdera.bsky.social‬ Diagnostic Research Workstream partners in Milan 🧩We're proud to be part of this committed consortium working to advance rare disease diagnostics #RareDiseases #HorizonEurope
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Reposted by Anna Esteve Codina
CNAG @cnag-eu.bsky.social · 25/05/2025
👥This is us! The CNAG team at #eshg2025: our Project Managers Elena Vila and Francesc Bou, Clinical Genomics Manager @lmatalonga.bsky.social‬, Functional Genomics Leader @annaesteveco.bsky.social‬, Data Analysts Steve Laurie and Gemma Bullich, and our Director Ivo Gut 🗓️Book a meeting with us!
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Reposted by Anna Esteve Codina
CNAG @cnag-eu.bsky.social · 24/05/2025
🎉Ready for the poster sessions at #eshg2025! @annaesteveco.bsky.social, our Functional Genomics Team Leader at CNAG, will present: “Integrative multi-omics for undiagnosed Rare Diseases (Omics-RD)” 🗓️Sunday, 25 May at 13:00-14:00 🗓️Monday, 26 May at 11:00 📌Exhibition Hall #GenomicsIsInOurDNA
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CNAG @cnag-eu.bsky.social · 15/05/2025
🔬Ayer culminaba el proyecto sobre cáncer colorrectal en adolescentes y adultos jóvenes, financiado por @contracancerinv.bsky.social y coordinado por Sergi Castellví (@idibaps.bsky.social) La Dr. @annaesteveco.bsky.social acudió desde CNAG, que ha aplicado RNA-seq para identificar su mutación causal
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Reposted by Anna Esteve Codina
CNAG @cnag-eu.bsky.social · 08/03/2025
💜Today, we celebrate that talent, dedication, and commitment know no gender. At CNAG, equity and inclusion are in our DNA, creating an environment where everyone’s potential is recognised and valued #WomensDay #DiversityMatters #8M #8M2025 #Diadelamujer #DiadelaDona #CNAG
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Reposted by Anna Esteve Codina
Hani Goodarzi @genophoria.bsky.social · 25/02/2025
And this is happening today. @vevotherapeutics.bsky.social and @arcinstitute.org Institute are joining forces to release Tahoe100M and scBaseCamp (>200M AI-curated cells from Arc). Arc’s Virtual Cell Atlas launches as the largest single cell data repository! arcinstitute.org/news/news/ar...
arcinstitute.org
Arc Virtual Cell Atlas launches, combining data from over 300 million cells | Arc Institute
Arc Institute today launched the Arc Virtual Cell Atlas, a growing resource for computation-ready single-cell measurements, starting with data from over 300 million cells. The initial release of the A...
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Reposted by Anna Esteve Codina
CNAG @cnag-eu.bsky.social · 19/02/2025
🌟Great News: CNAG is now on BlueSky! 🚀From Barcelona to the world, we’re bringing you the latest in genomics! Stay tuned for breaking news, cutting-edge technologies, groundbreaking research, and upcoming events 🔗https://www.cnag.eu #Genomics #Innovation #Research #BlueSky #CNAG
media.tenor.com
a blue sky with a butterfly and the word bluesky on it
ALT: a blue sky with a butterfly and the word bluesky on it
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Anna Esteve Codina @annaesteveco.bsky.social · 23/12/2024
🧬Check our asms tool 🛠, fast alternative to detect allele-specific methylation & imprinting using long-reads without the need of phasing www.biorxiv.org/content/10.1...
biorxiv.org
ASMS: finding allele specific methylation in human genomes without phasing
Motivation: Allele-specific methylation (ASM) refers to differential DNA methylation patterns between two alleles at a given locus. This phenomenon is often driven by genetic variants, such as single ...
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Reposted by Anna Esteve Codina
Lee Zamparo @lzamparo.bsky.social · 13/12/2024
Also filter on markers like MALAT1, cell intronic mapping reads cf. bmcgenomics.biomedcentral.com/articles/10....
bmcgenomics.biomedcentral.com
High content of nuclei-free low-quality cells in reference single-cell atlases: a call for more stringent quality control using nuclear fraction - BMC Genomics
The advent of droplet-based single-cell RNA-sequencing (scRNA-seq) has dramatically increased data throughput, enabling the release of a diverse array of tissue cell atlases to the public. However, we...
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Anna Esteve Codina @annaesteveco.bsky.social · 13/12/2024
Huge effort from @anaconesa.bsky.social at @scb.iec.cat comparing long-read RNA technologies @pacbio.bsky.social @nanoporetech.com and softwares #sqanti3, #bambu, #talon, #isoquant, for isoform discovery, still challenging to disentangle real biology from artefacts
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Anna Esteve Codina @annaesteveco.bsky.social · 12/12/2024
Spreading our work at the XII Jornades de Bioinformàtica i Genòmica de la @scb.iec.cat @tmontsay.bsky.social about our recent discovery rdcu.be/d04Gz of pervasive presence of not completly lysed cells in reference cell atlases @humancellatlas.org compromising quality & model training
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Anna Esteve Codina @annaesteveco.bsky.social · 12/12/2024
Brilliant presentation by @jamesasharpe.bsky.social at XII Jornades de Bioinformàtica i Genòmica by @scb.iec.cat about mechanistic dynamical models and #Turing patterns to go from genes to phenotypes
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Anna Esteve Codina @annaesteveco.bsky.social · 11/12/2024
For some the nuclei has not been lysed & we just sequence the cytosol
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Anna Esteve Codina @annaesteveco.bsky.social · 11/12/2024
Lysing buffer might not work for all cell types equally!
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Anna Esteve Codina @annaesteveco.bsky.social · 11/12/2024
We say that 'cells' without nuclear markers (intronic reads/Malat1) but with variable amount of nUMIs are cytosols (cells with not lised nucleous).
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Anshul Kundaje @anshulkundaje.bsky.social · 04/12/2024
This is really horrific. These single cell reference atlases are widely used as is to train all kinds of models! This is one of the reasons I've constantly harping about uniform reprocessing & extremely careful QC of large atlases. 1/
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Anshul Kundaje @anshulkundaje.bsky.social · 06/12/2024
Collectively as a community, we need to stop overhyping, dramatically reduce the fire-hose mentality of publishing & bean counting & be really honest about the strengths & limitations of our work. It is in our hands to elevate the integrity of the science we all do. 4/4
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Anna Esteve Codina @annaesteveco.bsky.social · 04/12/2024
Revise your old published work & ongoing sc projects. Speak loud if found similar findings & feel free to add more examples!
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Anna Esteve Codina @annaesteveco.bsky.social · 04/12/2024
So we encourage to plot boxplots for scRNAseq qcing for #nUMI, #mito, #MALAT1 and #intronic content or a combination of them like Figure 6 in our publication!
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Anna Esteve Codina @annaesteveco.bsky.social · 04/12/2024
Keep an eye to your sc dataset, 1)are there two clusters of same cell type one with and the other without #MALAT1 expression? 2)extreme values of #MALAT1 or #intronic reads is bad, null values indicate citosolic debris and extreme high values bare nuclei (dying/damaged cell)
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Anna Esteve Codina @annaesteveco.bsky.social · 04/12/2024
We submitted our work to other more "high-ranked" journals but said this is not novel enough or showed no interest. We do think is quite relevant to the sc community & urgent thing to be discussed!
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Anna Esteve Codina @annaesteveco.bsky.social · 04/12/2024
That's the point! Lab people working with sc data should speak out. We also raised this concern to #10X Genomics.
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Anna Esteve Codina @annaesteveco.bsky.social · 04/12/2024
Exactly, we proposed to that applying for the #czi sc data insights but got rejected, cell atlases should be re-filtered to reach high-quality datasets for downstream analysis & model training.
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Will Macnair @willmacnair.bsky.social · 03/12/2024
Anyone working with single nuclei data should read this paper! (single cell too, but for nuclei data it's essential) If I could only have one QC metric for single nuclei data, it would be spliced pct / intronic fraction (I think it's more useful even than number of UMIs 🤯). #SingleCell
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Tomàs Montserrat Ayuso @tmontsay.bsky.social · 03/12/2024
Not checking nuclear markers like MALAT1 or intronic reads in your scRNA-seq data?🚨 We show their power to flag low-quality cells—even in top public datasets. It’s time to prioritize better QC for cleaner, more reliable genomics research! Read more: bmcgenomics.biomedcentral.com/articles/10.... 1/8
bmcgenomics.biomedcentral.com
High content of nuclei-free low-quality cells in reference single-cell atlases: a call for more stringent quality control using nuclear fraction - BMC Genomics
The advent of droplet-based single-cell RNA-sequencing (scRNA-seq) has dramatically increased data throughput, enabling the release of a diverse array of tissue cell atlases to the public. However, we...
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