I gave my daughter C, A, and T cards to spell "cat." She grabbed a G and added it to the mix. Is she hinting at a future career in genetics? 🧬 🐾

🧬 Out this month in Nature Reviews Cardiology: A powerful look at how multiplexed assays of variant effects (MAVEs) are reshaping our understanding of cardiovascular disease genetics. Contributors include members of the AVE Alliance. 📑 www.nature.com/articles/s41... #Cardiology #FunctionalGenomics

The 9th Annual Mutational Scanning Symposium will be held in Melbourne, Australia March 25-27, 2026 🌟 #VariantEffect26 www.mss2026.org Registration will open soon!!!!

📣New today! 📄Landscapes of missense variant impact for human superoxide dismutase 1 🧑‍🤝‍🧑 @axakova.bsky.social @fritzroth.bsky.social & co

And follow it up with @natrevcardiol.nature.com's review on the application of MAVEs in cardiology by @amglazer.bsky.social et al. Creating an atlas of variant effects to resolve variants of uncertain significance and guide cardiovascular medicine go.nature.com/3JOJYc3 rdcu.be/eFmoe

📝Check out our review “Creating an atlas of variant effects to resolve variants of uncertain significance and guide cardiovascular medicine”, out in @natrevcardiol.nature.com. We review the use of Multiplexed Assays of Variant Effect and variant effect predictors in cardiovascular disease.

Our study on HCM intermediate effect variants (IEVs) is out today in Circulation, led by Juan Pablo Ochoa, Soledad García Hernandez and Luis De la Higuera Romero. IEVs are low frequency/penetrance variants with moderate effects sizes (OR:5-10). www.ahajournals.org/doi/10.1161/... #ESCcongress 🧬🫀

Having some summer fun...Glazer Lab Olympics! Our lab competed in 6 lab-themed events.

More smiles to share with you; this time, Andrew Glazer and Richard Dolder from the Glazer Lab at Vanderbilt University Medical Center. New blog: timothysyndrome.org/research/det... #CACNA1C #RareDisease #Research @amglazer.bsky.social @vanderbilt.edu

My wife and I had a lovely time in Spain, including the excellent #VariantEffect25 meeting!

Our "Atlas of Variant Effects 2030 Roadmap" is live: zenodo.org/records/1542... 1/n

Congratulations, John Shelley. news.vumc.org/2025/04/25/p... #VUMCMSTP #VUMCDBMI #PopGen #Bioinformatics #Genomics 🧬🖥️🧪

New paper out in Genome Biology! 🎉 We lay out best-practice guidelines for releasing variant effect predictors, developed through the Atlas of Variant Effects Alliance @varianteffect.bsky.social Open, interpretable, and clinically useful VEPs are the goal. 📄 doi.org/10.1186/s130...

📣New from Bastarache & co 📄Characterizing trends in clinical genetic testing: A single-center analysis of EHR data from 1.8 million patients over two decades

🚨I could not be more excited to share our new preprint on saturation genome editing of the small nuclear RNA (snRNA) RNU4-2: www.medrxiv.org/content/10.1... A super fun collaboration with incredible duo @gregfindlay.bsky.social @joachimdejonghe.bsky.social from @crick.ac.uk 🧬🖥️🩺 🧵1/12

I am pleased to share this @ahajournals.bsky.social CircGen paper. It is a team effort. I hope we have provided valuable insights on how KCNH2 variant that alters splicing and causes a large in-frame deletion can lead to a dominant negative effect of Kv11.1 K+ #ionchannel function.

It was great to attend the ACMG clinical genetics meeting for the first time, including a fun session on advances in cardiovascular genomics.

🧵 I’m excited to share our latest preprint! We studied 252 SCN5A variants found in patients with Brugada Syndrome by automated patch clamp. [1/7]

The 8th Annual Mutational Scanning Symposium is just around the corner! #VariantEffect25 What we are looking forward to: 🗣️Great talks! 🛠️Workshops! 🏆Poster session and awards! 🌏Amazing community! ⌛️March 1st deadline for abstracts!

Q: How many genes should be tested for patients with hypertrophic cardiomyopathy? A: 29 Excited to share our latest: Re-Appraisal of HCM genes by our ClinGen Hereditary CVD Gene Curation Expert Panel out today in @jaccjournals.bsky.social www.sciencedirect.com/science/arti...

I have always wanted to work with testing laboratories to integrate #ionchannel functional data into their variant classification workflow to reclassify harmful variants as likely pathogenic and improve genetic diagnosis for patients with channelopathies. Under review, but preprint is available.

“NIH is accordingly imposing a standard indirect cost rate on all grants of 15%”

Congrats Ellen on winning the lab ping pong tournament!

Gotta test them all.

Just updated this figure for 2025. There are now over 1 million missense Variants of Uncertain Significance in Clinvar!

🎉 Registration is now open for the 8th Annual Mutational Scanning Symposium #VariantEffect25 ℹ️ events.ibecbarcelona.eu/mutational-s...

I started working on genetic therapies for Mendelian disease in 2000 - and in the subsequent 25 years have never seen a disease where the molecular aetiology has undergone as giant an "OH WOW" moment as this. www.cell.com/cell/fulltex...

A PAS-targeting hERG1 activator reduces arrhythmic events in Jervell and Lange-Nielsen syndrome patient-derived hiPSC-CMs @jci-insight.bsky.social insight.jci.org/articles/vie...

Happy New Year! (and first post here 😀) Excited to share the final version of our work where we combine deep mutational scanning, cryo-EM, and molecular dynamics to further resolve the mechanisms of pH sensing in GPCRs. 🧵(1/n) www.cell.com/cell/fulltex...

Congrats @willowcoyote.bsky.social @amanglik.bsky.social and all authors on a tour de force dissection of proton-sensing by GPCRs! DMS, cryo-EM, MD -- it has it all! www.cell.com/cell/fulltex...

Yes! Image is the second page from our writing guidelines, but of course reading is essential beyond just for writing. In addition to the points in the thread below, I also recommend practicing multiple tiers of reading (skim, browse figures, read, read in depth) github.com/KULL-Centre/...

Titin is massive in size – at 3,800kD it’s the largest protein in your body and really important for heart function. In a new paper, led by Yuri Kim and the Seidman lab, we describe an enhancer critical for normal Titin expression. Here is the overview (1/n) Paper: www.jci.org/articles/vie...

Congrats to my PhD student Trey who received an American Heart Association fellowship!

There are now 24 step-by-step guides, explaining how to create these ⬇️ data visualizations with R/ggplot2 - I hope this is a useful resource. Find them all here: joachimgoedhart.github.io/DataViz-prot...

👀 A 10 page paper caused a recent panic because of a math error. I was curious if AI would spot the error by just prompting: “carefully check the math in this paper” especially as the info is not in training data. o1 gets it in one shot. This feels like a big capability gain for scientific work

Dear ion channel community - come and join us for an exciting talk by @corrylab.bsky.social next Tuesday on sodium channel fast inactivation. Do you still believe in ball-and-chain? Or rather rings obliterating the pore? Something else? Then come and discuss with us at the #WSCS! #ionchannels #Nav

This morning's MDT was productive. It brought together cardiologists, clinical geneticists, genetic counsellors, research scientists, and the head of my local clinical testing laboratory to discuss and reclassify a suspicious SCN5A VUS as pathogenic. It was a good outcome for this family but 1/2

Paper came out this past week! Using MAVEs to reduce variant classification disparities in underrepresented populations and demonstrating AI bias in computational predictors rdcu.be/d2kCn Previous tweetorial: x.com/MoezDawood/s... Previous post by @ee-reh-neh.bsky.social: bsky.app/profile/ee-r...

Blog post on using AI in academia from @arjunraj.bsky.social and the great folks at Mid Career PI Slack! Finally, a How To guide for how to use AI effectively in academia. arjun-raj-lab.gitbook.io/arjun-rajs-t...

Learning about Bayesian statistics from Ellen (grad student in the lab)! I'm now prepared to cite some Bayesian math if I ever get pulled over for a Breathalyzer test.

Can a single small molecule rescue the stability of nearly all mutations in a protein? Our new preprint by Taylor Mighell www.biorxiv.org/content/10.1... thread on the other place: x.com/taylor_mighe...

Another beautifully-written piece by @doctorveera.bsky.social 'One of the biggest mysteries of human genome... is the biological mechanism through which noncoding variants influence disease-risks and trait variations.' 💯 www.gwasstories.com/p/de-novo-en...

Editorial by Barry London for our recent KCNH2 paper (DOI: 10.1161/CIRCULATIONAHA.124.069828). #cardiosky #ionchannels DOI: 10.1161/CIRCULATIONAHA.124.072169

🎤✨VESS Special Edition: End-of-Year Open Mic! Join us Dec 3, 9-10am PT | 5-6pm GMT+1 with Drs. Benedetta Bolognesi & Jonathan Frazer: Will VUS soon be a thing of the past? Clinical applications + protein design—don’t miss it! 🚀 #VUS #ProteinDesign ℹ️ www.varianteffect.org/seminar-series

Our preprint: Molecular convergence of risk variants for congenital heart defects leveraging a regulatory map of the human fetal heart Multiomic atlas + human genetics = new cell types, genes, and pathways that influence heart development and disease www.medrxiv.org/content/10.1... Thread 👇

Your reminder that many of the muscles, nerves and bones you use to hear and talk with correspond to gill structures in fish. 🧪 #evolution #paleontology

I wrote about the National Institutes of Health and the various serious and unserious proposals for NIH reform that have been floating around. It is important to understand how this agency actually functions and point criticism at the right problems. A short 🧵:

Check out the Sky Follower Bridge Chrome extension--you can quickly scan the list of people you follow on Twitter to find all matching Bluesky handles.

🧬 Our dilated #cardiomyopathy GWAS out today! 📍https://www.nature.com/articles/s41588-024-01952-y All made possible with friends and collaborators from HERMES Consortium @alberthenry.bsky.social @tomlumbers.bsky.social @jamesware.bsky.social @mrc-lms.bsky.social @imperialnhli.bsky.social #BHF 🧵 👇