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Mattia Frontini

@ciavenasc.bsky.social
268 followers 621 following 18 posts

Functional Genomics, Rare Diseases and Cardiovascular Disease @ Exeter University ORCID 0000-0001-8074-6299

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Reposted by Mattia Frontini
FragileNucleosome @fnucleosome.bsky.social · 02/10/2026
📢🧬Join us on Wednesday, Oct 7th for the next #FragileNucleosome seminar to hear exciting chromatin stories from Moonmoon and Paul! If you still haven't registered for our series: us06web.zoom.us/webinar/regi...
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Claudio Cantù @claudiocantu81.bsky.social · 01/10/2026
CUT&ID does Genomics+Proteomics in one shot via the fusion protein Lazarus Out @narjournal.bsky.social Unstoppable @annanordin.bsky.social is thinker+executor Get in touch if you wish to try it—plasmid soon @addgene.bsky.social 🙏 @liu.se @scilifelab.se @kawresearch.bsky.social @cancerfonden
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Lewis Pugh Foundation @lewispughfdn.bsky.social · 01/10/2026
Switzerland has lost almost 20% of its glacier ice in just five years. If emissions continue to rise as they have, practically all glaciers in the Swiss Alps could disappear by 2100. doi.glamos.ch/pubs/annualr... 📷 GLAMOS / Urs Steinegger / Matthias Huss
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FragileNucleosome @fnucleosome.bsky.social · 23/09/2026
remember to join us for #FNucleosome seminar in about 2 hours!!
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Nicola Kelly @nicolakellywrites.bsky.social · 17/09/2026
I have spent weeks shadowing the RNLI and I can tell you, they do it out of nothing more than compassion. Wrote about the heroes I've met over the years in this free-to-read post. nicolakelly.substack.com/p/the-rnli-a...
nicolakelly.substack.com
The RNLI aren't traitors; they're heroes
I have spent weeks shadowing lifeboat crews. Here's what they do and what it's like.
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Mike Inouye @mikeinouye.bsky.social · 15/09/2026
We are recruiting for a Postdoctoral Researcher in Biomedical AI to open up new frontiers at the interface of genetics, biochemistry and the use of population-scale data to guide development of therapeutics! www.cam.ac.uk/jobs/researc... Come do some blue sky research w/ me & @cfoguet.bsky.social 😁
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Hannah Long @hannahlong.bsky.social · 08/09/2026
📣 Interested in non-coding disease-causing variants? Check out our review "Mechanisms underlying disease-causing variants in promoters and enhancers". Interesting mechanisms, challenges and future perspectives. Great to work with @wbickmor.bsky.social, Kun and Ryan! www.nature.com/articles/s41...
nature.com
Mechanisms underlying disease-causing variants in promoters and enhancers - Nature Genetics
This Review discusses how rare-disease-causing variants in the noncoding genome impact gene regulation, why these examples are so few and how new approaches could accelerate discovery of noncoding var...
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Philippe Batut @philippebatut.bsky.social · 10/09/2026
🧬🔬 Why are enhancers transcribed and how does that impact gene regulation? I’m really excited to share our new paper in @science.org showing that noncoding RNAs control the timing of gene activation in embryos. With Mike Levine #ScienceResearch @columbiamed.bsky.social A few highlights below... 🧵👇
science.org
Noncoding transcription controls the developmental dynamics of long-range gene regulation
The genomic regions regulating gene expression are often themselves transcribed into a variety of noncoding RNAs (ncRNAs). However, the regulatory roles of this noncoding transcription remain largely ...
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Pritesh Mistry @mustbemistry.bsky.social · 10/09/2026
The U.K. commission on the regulation of Al in healthcare has now been published. It aims to set the U.K. as an health innovation leader with proportionate regulation to support Al use with patient safety. www.gov.uk/government/p...
gov.uk
National Commission into the Regulation of AI in Healthcare: Recommendations for a future regulatory framework
Recommendations from the National Commission into the Regulation of AI in Healthcare, which was established to advise government on a future regulatory framework for AI in healthcare.
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Giacomo Donati @giacomodonatijd.bsky.social · 11/08/2026
The final version is now online! #RNALocalization #Chromatin #FunctionalGenomics #CellMigration #CancerBiology www.nature.com/articles/s41...
nature.com
Multilayered control of mRNA delivery to cell protrusions drives localized mini-cytoplasm establishment for stress-induced cell activation - Nature Communications
Here the authors show that, under stress, epithelial cells reveal an unexpected role for a chromatin factor in directing mRNA to cell protrusions, enabling local organelle assembly and cell movement, ...
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Mattia Frontini @ciavenasc.bsky.social · 03/09/2026
Also Harry Kane first Nature paper since the world cup
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Alexis Verger 🧬🧫🧪 @alexis-verger.cpesr.fr · 03/09/2026
wait, wait, what ????? protein-coding chimeric mRNAs 🤯 www.nature.com/articles/s41...
nature.com
Functional chimeric mRNAs encode proteins in mammalian immunity - Nature
Inflammation induces interchromosomal DNA interactions that bring parent genes into close proximity, facilitating the formation of chimeric mRNAs that encode physiologically relevant, functional prote...
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Atlas of Variant Effects Alliance @varianteffect.bsky.social · 27/08/2026
If you're interpreting functional assays for clinical use, check out this resource from members of our ClinGen/AVE Functional Data Working Group. Get more information and download the presentation: www.varianteffect.org/clinical-app... Read the preprint: www.medrxiv.org/content/10.6...
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Atlas of Variant Effects Alliance @varianteffect.bsky.social · 24/08/2026
Have you listened to the Variants and Us (VUS) podcast yet? Now into its second season, the podcast focuses on the basic and translational science necessary to map the effect of variants in disease and rare disease. Listen to all episodes here: www.varianteffect.org/podcast/
The image shows the Variants and Us (VUS) podcast logo, which is a pair of teal-colored headphones over the top of a double-stranded DNA helix with one section highlighted to represent a variant and the pod name. The text says, VUS Pod.
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Mattia Frontini @ciavenasc.bsky.social · 24/08/2026
hyper enhancers when?
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Reposted by Mattia Frontini
Kotaku @kotaku.com · 17/08/2026
Report Suggests Nearly No One Is Buying AI Generated Goods kotaku.com/3d-model-markets-are-bei…
kotaku.com
Report Suggests Nearly No One Is Buying AI Generated Goods
A classic conundrum of 'why would I buy something you didn’t make,' platforms like CGTrader has shelves of AI made models collecting dust
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Lucas Waltzer @lucaswaltzer.bsky.social · 17/08/2026
Appalling string of misconducts at Marseille IHU . 64 publications retracted & 270 with expression of concern... What a glorious success Dr Raoult!
link.springer.com
Follow-up investigation of ethics approvals and regulatory compliance in publications from the IHU-Mi - Research Integrity and Peer Review
Background Following our previous investigation of 456 articles published by the IHU-Méditerranée Infection (IHU-Mi) institute in Marseille, France, subsequent editorial actions, institutional reviews...
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Stefan Schoenfelder @stefanschoenfelder.bsky.social · 07/08/2026
Very happy to see this story finally out in @natbiotech.nature.com: www.nature.com/articles/s41... Fantastic collaboration with @lancasterlab.bsky.social on how to identify and ‘fix’ differentiation-compromised human pluripotent stem cells. @babrahaminst.bsky.social @mrclmb.ac.uk 🧵 below
nature.com
Reversible epiblast regionalization determines differentiation potential of human pluripotent stem cells - Nature Biotechnology
The differentiation variability of human pluripotent stem cell lines is diagnosed and corrected.
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Caroline Wright @carolinefwright.bsky.social · 28/07/2026
Newborn screening is incredibly important, but expanding it is not the only way to reduce the diagnostic odyssey in rare disease. Access to rapid diagnostic testing and research are also crucial... as we discuss in a new article in Nature Medicine rdcu.be/fwqpP
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Evgeny Kvon @evgenykvon.bsky.social · 05/08/2026
A really cool preprint from Joanna Wysocka's lab showing that housekeeping genes use distal enhancers as dosage buffers against TF fluctuations, but only during critical cell fate transitions. Makes so much sense! www.biorxiv.org/content/10.6...
biorxiv.org
Enhancer buffering protects dosage-sensitive housekeeping genes during vulnerable developmental transitions
Housekeeping genes maintain robust expression across cell types despite dynamic transcription factor fluctuations, yet their haploinsufficiency is associated with many tissue-specific developmental di...
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Mikhail Spivakov @mspivakov.bsky.social · 04/08/2026
Very happy to see this story finally out (link in comments)! We used low-input Capture Hi-C to profile promoter-anchored chromosomal interactions in Type 3 innate lymphoid cells (ILC3s) - rare tissue-resident lymphocytes that lack antigen receptors and regulate barrier immunity.
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RobertoFeuda @robertofeuda.bsky.social · 30/07/2026
We're hiring 4 postdocs at @unibo.it to study nervous system evolution. Seeking expertise in single-cell genomics, molecular or developmental biology in ctenophores, cnidarians, echinoderms, flies or human stem cells. 2+2 yrs contract. Deadline: 26 Aug. Please share! bandi.unibo.it/s/apos7/proc...
bandi.unibo.it
Procedura di valutazione comparativa per titoli e colloquio per il conferimento di n. 4 contratti di ricerca presso il Dipartimento di Scienze Biologiche, Geologiche e Ambientali - SSD BIOS-04/A - GSD...
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Odd This Day @oddthisday.bsky.social · 03/08/2026
Morning
Far Side cartoon: an array of men in smart suits with bow ties stands beneath a banner reading “Welcome BUTLERS of the WORLD Annual Banquet”, looking at one of their number lying face down on the floor with a dagger in his back. A police inspector kneels next to the body and says to the colleague stood behind him: "God, Collings, I hate to start a Monday with a case like this."
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International Society on Thrombosis and Haemostasis @isth.org · 28/07/2026
Help shape the future of clinical guidance in thrombosis and hemostasis! Submissions should address a high-priority need in the field, have a clearly defined scope and be supported by sufficient high-quality evidence Submit your proposal: bit.ly/4bfU2Wh
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Atlas of Variant Effects Alliance @varianteffect.bsky.social · 28/07/2026
As our Variant Effect Seminar Series (VESS) returns, we caught up with two of our earliest speakers, Mafalda Dias & Jonathan Frazer. Now group leaders at the Centre for Genomic Regulation (CRG) in Barcelona, we explore the role of VESS in their journey. Read their interview: tinyurl.com/m4ncw2nf
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Mattia Frontini @ciavenasc.bsky.social · 23/07/2026
Interesting story, some echoes of the tasmanian devil cancer
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Atlas of Variant Effects Alliance @varianteffect.bsky.social · 23/07/2026
Mark your calendars for the next instalment of our Variant Effects Seminar Series. 🗓️ On August 4, Sarah Gurev will be our sole speaker, with her extended presentation, 'Toward reliable viral mutation effect prediction for pandemic preparedness'. More info: tinyurl.com/4ms3mmzy
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Atlas of Variant Effects Alliance @varianteffect.bsky.social · 20/07/2026
You can still register for, 'Unmasking the Genome: Integrating WGS, AI and Functional Genomics', from 1-4 September at the University of Exeter, UK. The workshop is for all researchers working at the leading edge of genomic science. 🧬 Get the programme and register now: tinyurl.com/4vbrp63p
tinyurl.com
Unmasking the Genome: Integrating WGS, AI and Functional Genomics - UK Human Functional Genomics Initiative
Unmasking the Genome is a four-day advanced workshop designed for researchers working at the leading edge of genomic science. This programme brings together expertise from Google DeepMind, leaders in ...
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deciphergenomics.bsky.social @deciphergenomics.bsky.social · 10/07/2026
DECIPHER version 11.40 has been released. See the new features at www.deciphergenomics.org #variantinterpretation
deciphergenomics.org
DECIPHER v11.40: Mapping the clinical genome
DECIPHER helps the clinical community share and compare human genome variants and phenotypes in a database of tens of thousands of patients worldwide
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Richard Sever @richardsever.bsky.social · 06/07/2026
“move from preprint to peer-reviewed publication leaves the central claims of most abstracts intact, indicating preprints are a reliable source…papers that were never posted as preprints were retracted at roughly twice the rate of those that were…” www.biorxiv.org/content/10.6...
biorxiv.org
Tracking claim changes from preprint to publication across 72,644 biomedical studies using large language models
Preprints now disseminate a large share of biomedical research before peer review. Because they have not yet passed peer review, some scientists regard preprint claims as unverified or potentially unr...
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Angela Andersen @angelaandersen.bsky.social · 24/06/2026
For the first time, we can see individual mRNAs in 3D inside cells at nm precision. Their shapes vary by gene and subcellular location. Congrats @fbzt.bsky.social & team @impvienna.bsky.social Top 1% @qedscience.bsky.social Edited by @lifescienceeditors.bsky.social www.biorxiv.org/content/10.6...
biorxiv.org
Super-resolved imaging of mRNA ultrastructure in cells
Messenger RNA (mRNA) is a central polymer of gene expression, whose ultrastructure and defining regulatory rules remain unclear. To visualize the ultrastructure of mRNA, we here develop Combi-PAINT, a...
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Zornitza Stark @zornitza.bsky.social · 25/06/2026
📣 Out now @naturemedicine.bsky.social 🧬🤖 👉 rdcu.be/fqasl Our automated reanalysis tool Talos enables broad adoption and delivers timely + equitable #raredisease #diagnosis at scale! ♻️ Runs monthly on >10K datasets 🎯High specificity 💰Low running costs 🤗Open source @dgmacarthur.bsky.social
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FragileNucleosome @fnucleosome.bsky.social · 17/06/2026
We just started our summer break, but we're also planning our September-December seminar schedule! If you have an exciting chromatin/transcription story that will be ready for the spotlight by then, use the survey below to nominate yourself to give a #FNucleosome talk 🧬🧬 forms.gle/1EKYN2Nt79ar...
forms.gle
Application to speak in the Fragile Nucleosome series
Thank you for your interest in our seminar series! We use a variety of different session formats but, in general, trainees can plan for a ~15 min talk + 5min Q/A and PIs can plan for a ~25min talk +...
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Anders Sejr Hansen @andersshansen.bsky.social · 22/06/2026
(1/n) Very excited to share tri-lab collab (Mirny & Zechner) led by Harvey, Henrik & Jack: Q: How do enhancers & promoters interact in space (contact vs. action-at-a-distance) and time (stable vs. transient)? A: Transient E-P contact (~25-42 nm lasting ~10-20 sec): www.biorxiv.org/content/10.6...
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Ana Pombo @apombo1.bsky.social · 23/06/2026
bioRxiv alert! CoPhasing resolves haplotype-specific 3D chromatin structures from GAM data, revealing extensive structural heterogeneity between human homologous chromosomes and its interplay with histone modifications and gene expression! Thanks to all coauthors! www.biorxiv.org/content/10.6...
biorxiv.org
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Thiago Carvalho @cyrilpedia.bsky.social · 22/06/2026
'Evidence suggests that AI-driven ‘deskilling’ is starting to happen in medicine, computer science and other fields. Researchers are now discussing how to preserve important human expertise in the age of AI.' www.nature.com/articles/d41...
nature.com
Is AI ruining our skills? Early results are in — and they’re not good
Reliance on artificial-intelligence tools degrades the abilities of physicians and software engineers, studies show.
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Martin Paul Eve @eve.gd · 18/06/2026
Accurate.
Screenshot of a social media post by Angus McIntyre (@angusm@mastodon.social). The post humorously claims that the UK government's plan to teach 10 million British children how to use VPNs could become one of the largest IT education projects ever. It jokes that experts support the scheme because peer education and incentives will help it succeed, and includes a mock quote saying that, with the rise of autocratic governments worldwide, VPN literacy is more important than ever and that the project comes at the right time. The humour derives from the implication that government internet restrictions would encourage widespread VPN use among young people.
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GOA - Genome Organisation Australia @genome-org-aus.bsky.social · 16/06/2026
Only one week to go until our next GOA seminar! @karissalhansen.bsky.social will present here work on the mechanisms of long-range enhancer-promoter communication. Registration link: unimelb.zoom.us/webinar/regi...
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FragileNucleosome @fnucleosome.bsky.social · 14/06/2026
🧬This Wednesday will be the final seminar of the Spring 2026 #FNucleosome schedule, and we've got a great one lined up! Join us to hear about the outstanding research of @annanordin.bsky.social, @valentinabaderna.bsky.social, and @kezlane.bsky.social! register here: us06web.zoom.us/webinar/regi...
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Caroline Wright @carolinefwright.bsky.social · 12/06/2026
Exeter genomics out in force at #ESHG2026 in Gothenburg! Multiple talks and posters every day...
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GOA - Genome Organisation Australia @genome-org-aus.bsky.social · 11/06/2026
Please join us for the next edition of the GOA monthly seminar series Dr Karissa Hansen Registration link: unimelb.zoom.us/webinar/regi...
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Carmelo Ferrai @carmeloferrai.bsky.social · 09/06/2026
Hear hear, Another fantastic collaborative project have seen the light! After a few years of backing...the manuscript on how "Stem cell differentiation disperses transcriptional clusters via a conserved surface-condensate trajectory" Is out 🥳🥳 🍾🍾🥂🥂 advanced.onlinelibrary.wiley.com/doi/10.1002/...
advanced.onlinelibrary.wiley.com
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Christine Mayr @christinemayr.bsky.social · 08/06/2026
Finally out in @Cellcellpress! Proteins with long IDRs are prone to misfolding during protein synthesis. This is prevented by mRNA 3′UTRs that act as mRNA-based IDR chaperones. www.cell.com/cell/fulltex...
cell.com
mRNA 3′ UTRs chaperone intrinsically disordered regions to control protein activity
Highly conserved mRNA 3′ UTRs act as co-translational chaperones for intrinsically disordered regions (IDRs), preventing inter-domain misfolding and enabling biogenesis of fully active proteins.
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Jon Henninger @jhenninger.bsky.social · 08/06/2026
Excited to share the first pre-print from our lab!! Check it out here! www.biorxiv.org/content/10.6... We found that many RNA-binding proteins canonically understood to regulate RNA processing can also function like transcription factors and cofactors to directly regulate transcription.
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Mikhail Spivakov @mspivakov.bsky.social · 08/06/2026
Our story about the poising and connectivity of human developmental enhancers is out! www.cell.com/cell-reports...
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Andrea Ganna @andganna.bsky.social · 05/06/2026
📢I'm setting up a new team at the @humantechnopole in Milan. We have several openings in AI applied to nationwide health data, biobank-scale -omics. Milan is a beautiful city and at @humantechnopole is top notch. You can find post-doc positions here: careers.humantechnopole.it/job/Postdoc/...
careers.humantechnopole.it
Postdoc
Postdoc
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CambridgeCardio @cambridgecardio.bsky.social · 04/06/2026
A MRC funded project called the Lung Immune Challenge study at Addenbrooke`s Hospital. Is currently recruiting volunteers with asthma. For more information about study please lungchallenge.org.uk or contact us on cuh.lungchallenge@nhs.net
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Mattia Frontini @ciavenasc.bsky.social · 04/06/2026
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Mattia Frontini @ciavenasc.bsky.social · 04/06/2026
Who would have guessed
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Dr Jamie Gallagher @jamiebgall.co.uk · 02/06/2026
It’s Pride 🏳️‍🌈 Spare one repost for a small creator? 🥺 My science and sci fi pins raise money for homeless LGBTQ+ people. Just sent another £800 to @aktcharity.bsky.social bringing total to £47,521 New for Pride 2026: 🌈Scientist🌈 🏳️‍🌈🐥🦜🦅🏳️‍🌈 🌈pronouns🌈 www.jamiebgall.co.uk/shop
Pin badge “scientist” in rainbow motif Two bird pins. A series if birds sitting on a branch. Each bird is the colour of a stripe on the rainbow flag. Pronoun pins with rainbow motif:
She her 
He him 
She they 
He they 
They them An array of pride themed science and sci fi pins.
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