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
Posts by Mattia Frontini
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?...
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...)
🤪
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.
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
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
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 🤞
⚡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...
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.
Kids born the same year that the term “RNA-seq” was coined are heading to college this fall. We are all unspeakably ancient.
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
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
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...
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/...
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...
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!
🚨 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
🥁 #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...
Hope the dog won;t eat this one as well! Late buyer, missed the launch.
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...
🚨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
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
In ~5 hours…
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
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/...
Please repost - Multiple PhDs available
www.findaphd.com/phds/project...
www.findaphd.com/phds/project...
www.findaphd.com/phds/project...
both are right: the best is marine microbiology
Reminder! Deadline to apply is midday today!
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...
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...