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Posts by Mattia Frontini

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May's Variant Effect Seminar features Thea Klarsø Schulze of the MRC Laboratory of Molecular Biology, Cambridge, UK and Jerome Freudenberg from the Pimentel lab at UCLA, USA.

Bookmark the event in your calendar: www.varianteffect.org/seminar-seri...

#AtlasOfVariantEffects

14 hours ago 0 1 0 0
Scaled multidimensional assays of variant effect for hypertrophic cardiomyopathy - Yuta Yamamoto
Scaled multidimensional assays of variant effect for hypertrophic cardiomyopathy - Yuta Yamamoto YouTube video by Variant Effects

You can watch all our Variant Effects Seminars on YouTube. Yuta Yamamoto (Ashely lab, Stanford University, USA) delivered April's second talk on decoding genetic variants associated with hypertrophic cardiomyopathy using scalable functional genomics.

Catch up now: youtu.be/w9dfXdETqNs?...

1 day ago 1 1 0 0
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I'm going to have to get my butt in gear if I want to get one last publication out before retirement

(www.nature.com/articles/s41...)

🤪

1 week ago 54 15 8 5
Screenshot of Times piece with headline "Millions to be denied hospital referrals in drive to cut waiting lists."

Screenshot of Times piece with headline "Millions to be denied hospital referrals in drive to cut waiting lists."

🧵/ The NHS is about to undergo one of the most radical – and scandalous - changes in its history.

From 1st April (the public are the fools in this), GPs will be contractually obliged to seek remote “advice & guidance” from hospital clinicians, making it even harder to see an NHS specialist.

3 weeks ago 523 371 57 50
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The Genotype-Phenotype Map A comprehensive map of genetic associations, colocalizations, and rare variant analysis across thousands of traits and molecular measurements.

Excited to announce the release of The Human Genotype-Phenotype Map!

* We processed 16k complex traits & 2.7M QTLs
* Turned 49.3M significant colocalizations into 97k distinct groups
* Upload your own GWAS to compare against all data

Website: gpmap.opengwas.io
Preprint: tinyurl.com/3ktsr9hw

1 month ago 29 15 1 3
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MSS26 Mutational Scanning Symposium 2026, 25-27 March, Melbourne

Registration for MSS26 in Melbourne will close next Monday - we still have a few tickets available, and an amazing line-up of speakers across all areas of variant effects work, so if you were on the fence, check out our program and then smash that "Register now" button!

www.mss2026.org

1 month ago 5 6 0 1

Update on UK science funding shambles 🚨 Pressing letter from @chionwurah.bsky.social (Science, Innovation and Technology Committee Chair) asking for some answers about what the hell UKRI are doing:
committees.parliament.uk/publications...
Lets hope she and we finally get some satisfactory answers 🤞

1 month ago 5 4 0 1
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⚡This Wednesday! 🥁We've got two exciting chromatin talks coming up from @almassalha.bsky.social and @carmeloferrai.bsky.social
🐣If you haven't registered for the series, please register and join us: us06web.zoom.us/webinar/regi...

1 month ago 20 8 1 4

Can one map the genome-wide binding (1) and its protein partners (2) simultaneously from the same sample?

Yes, one can. with CUT&ID ✂️🪪

Spearheaded — singlehandedly — by @annanordin.bsky.social

No need of transgenesis, cloning and overexpression.

Check it out, it's fast and its works.

4 months ago 153 58 4 7

Kids born the same year that the term “RNA-seq” was coined are heading to college this fall. We are all unspeakably ancient.

1 month ago 61 16 4 1
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Join our seminar next Tuesday, for two insightful talks from Julianne Funk and Nisha D. Kamath with powerful illustrations of how systematic variant characterization is accelerating precision medicine and expanding our therapeutic toolkit.

#Genomics #CRISPR #Seminar #AtlasOfVariantEffect

1 month ago 2 1 0 0
White background with a pixel map of Australia and text saying 1 month to go and program now available for the MSS 2026 meeting in Melbourne, Australia from25-27 March.

White background with a pixel map of Australia and text saying 1 month to go and program now available for the MSS 2026 meeting in Melbourne, Australia from25-27 March.

One month to go until we open the doors on #MSS26 and we can't wait to see you there! Check out the program and register at: www.mss2026.org

#MSS26 #MAVE #Genomics #PrecisionMedicine #Symposium #AtlasOfVariantEffectsAlliance

1 month ago 3 2 0 0
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Tread -1- EpiSci - I am very proud to share with you our new study that you can access on @biorxivpreprint.bsky.social (see link below)
"The Interaction with Nanotopographical Environment regulates nuclear mechanoresponse in mESCs via Histone Demethylase KDM3A.
www.biorxiv.org/content/10.6...

2 months ago 64 29 5 6
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1/3 New bioRxiv preprint from the lab: “Minute-scale coupling of chromatin marks and transcriptional bursts”. Led by Xiohui Gao & Chaebeen Ko. bioRxiv : www.biorxiv.org/cgi/content/...

2 months ago 41 20 1 1
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We've got two exciting chromatin talks coming up on Wednesday next week:

@epijenatics.bsky.social from @jbuenrostro.bsky.social's lab and @ambystoma22.bsky.social!

register and join us: us06web.zoom.us/webinar/regi...

2 months ago 14 13 0 3
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Ad for a postdoc position in centromere biology with colorful chromosomes and centromeres made out of FIMO.

Ad for a postdoc position in centromere biology with colorful chromosomes and centromeres made out of FIMO.

🧪 My lab has an opening for a postdoc position soon! Please share/get in touch!

2 months ago 14 18 0 0
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🚨 Applications open! 🚨

Medical students: Apply for our 8-week Summer Scholarship in medical mycology. Gain lab experience, study design & data analysis skills, no prior expertise needed!

📍 Exeter or partner institutions
📅 Deadline: 28 Feb 2026
👉 buff.ly/PrpeVN4

2 months ago 0 1 0 0
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🥁 #FragileNucleosome is back on Jan 28! We are very excited to host @au-ho-yu.bsky.social and @gcloner.bsky.social as our first speakers of 2026!
📋Please don't forget to register for our 2026 seminar series: us06web.zoom.us/webinar/regi...

3 months ago 20 13 0 4

Hope the dog won;t eat this one as well! Late buyer, missed the launch.

3 months ago 1 0 0 0
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Pulse - Application Application The second SciLifeLab PULSE call is open (since December 15, 2025, at 11:00 UTC +1) PULSE postdoc applicants have the opportunity to choose between an academic or an entrepreneurial […]

You wish to do a #Postdoc supported by a unique network?

My Lab will host PULSE #Postdoc Applicants
Program by the prestigious @scilifelab.se

Check this out and get in touch with me if you are interested in top-notch #Genomics, #DevBio and #Cancer Biology 👇

www.scilifelab.se/research/pul...

4 months ago 6 2 0 0
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🚨New paper out! In our @MolCellNews paper, we solve a piece of the puzzle of how our genome folds. We found the two specific molecular "brakes" in the CTCF protein that stop DNA loop extrusion. One of the final pieces of my PhD!
tinyurl.com/29uuc5by

4 months ago 22 10 1 2
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Our new study defines a distinct #neurogenetic condition arising from recurrent structural variants at 16p13.3 palindrome.

Individuals show progressive ataxia, cognitive decline, and a characteristic MRI pattern with caudate & cerebellar atrophy.

#Genomics #RareDisease 🧵1/3

4 months ago 14 7 2 0

In ~5 hours…

5 months ago 1 1 0 0

Our latest work dissecting the interplay of endothelial and immune cells in non-communicable diseases genetics. We explained 815 loci (29% to 40%) and revealed the complex relationship between cell types and diseases.
www.biorxiv.org/content/10.1...
@nicolesoranzo.bsky.social @npirastu.bsky.social

5 months ago 3 1 0 0
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Small things matter: Lack of extraislet β cells in type 1 diabetes Early loss of small extraislet β cells in children with type 1 diabetes could explain age-related differences in disease.

Congratulations to @sarahibex.bsky.social and Team at the University of Exeter Medical school (@hls.exeter.ac.uk) on the breakthrough study on #diabetes pathology

www.science.org/doi/10.1126/...

5 months ago 8 3 0 0
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Please repost - Multiple PhDs available

www.findaphd.com/phds/project...

www.findaphd.com/phds/project...

www.findaphd.com/phds/project...

5 months ago 37 55 1 1
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both are right: the best is marine microbiology

5 months ago 72 11 1 0

Reminder! Deadline to apply is midday today!

5 months ago 0 1 0 0
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Promoter-proximal gatekeepers restrict pleiotropic enhancer inputs to achieve tissue specificity Developmental enhancers are central regulatory elements that can activate multiple genes, yet how they selectively regulate one gene over its neighbours remains unclear. Using the Drosophila twist E3 ...

Ever wondered what drives enhancer-promoter specificity? Why would an enhancer activate one gene rather than another neighboring one?

Check our latest preprint, led by @mmasoura.bsky.social, to find out!
www.biorxiv.org/content/10.1...

6 months ago 100 42 2 5
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Enhancer-promoter compatibility is mediated by the promoter-proximal region Gene promoters induce transcription in response to distal enhancers. How enhancers specifically activate their target promoter while bypassing other promoters remains unclear. Here, we find that the p...

What is a promoter? And how does it work?

We very happy to share our latest work trying to understand enhancer-promoter compatibility.
I am very excited about the results of @blanka-majchrzycka.bsky.social, which changed the way I think about promoters

www.biorxiv.org/content/10.1...

6 months ago 173 74 2 6