After our study on RNU4-2 and RNU5B-1 published in May (Nava et al, Nature Genetics 2025), I am excited to share our new preprint reporting dominant and recessive variants in RNU2-2 as a frequent cause of developmental and epileptic encephalopathy (DEE). 📄 www.medrxiv.org/content/10.1...

Many conserved exons in the heart and brain utilize weak 5 ′ splice sites, yet they are accurately spliced. But how? We show that splicing fidelity is actively enforced through a QKI-U6 checkpoint at the U1→U6 handover in essential cardiac genes during organogenesis. www.biorxiv.org/content/10.1...

📣Abstract deadline is *tomorrow* ! The list of speakers from academia & industry, + dates in Sicily ➡️ you should be on your way to submitting your abstract.... #RNA #therapeutics rnahorizons.com/abstract-sub...

Very excited that our most significant work, a collaboration w/ Dr. Can Cenik at UT Austin on translational gene regulation, was finally published in Nature Biotechnology in a dual set of studies: Paper 1 -- an AI model trained to predict translation rates from mRNA sequences: rdcu.be/exN1l

If we want to connect genetic variation to disease, we need to move beyond baseline conditions. Our study shows that dynamic, context-specific regulation holds the key to understanding many unexplained GWAS signals. The preprint again: www.biorxiv.org/content/10.1...

Happy to announce our paper comparing embryonic gene expression between C. elegans and C. briggsae, work led by Christopher Large with Rupa Khanal and in collaboration with Junhyong Kim and Bob Waterston. www.science.org/doi/10.1126/...

Very excited to share our new work on gastruloids by the incredible Cat Triandafillou! We mapped gene expression across 26 individual gastruloids at single-cell resolution and discovered some pretty amazing patterns about how these "mini-embryos" organize themselves. www.biorxiv.org/content/10.1...

We are excited to introduce mRNABench, a comprehensive benchmarking suite that we used to evaluate the representational capabilities of 18 families of nucleotide foundation models on mature mRNA specific tasks. Paper: doi.org/10.1101/2025... Code: github.com/morrislab/mR... A 🧵

📣We are happy to announce the release of MAJIQ V3 😊🎉 check out details here #RNA #Splicing #RNASeq biociphers.wordpress.com/2025/06/20/m...

Reminder: Nobel-prize winning PCR (1983), used in basically all genetic tech today, was only possible because of extremophile bacterium discovered in 1964 in Yellowstone funded by a small ~$80k NSF grant with no obvious application at the time. #science 🧪 www.richmondscientific.com/how-a-discov...

🔊 Meet Mathieu Quesnel Vallières @rna-ken.bsky.social : Using transcriptomic analyses to find cancer immunotherapy targets, he’s bringing his expertise to @usherbrooke.bsky.social , supported by D2R’s New Faculty Start-Up program 🔗Learn more: buff.ly/laJgUJ3 #ResearcherSpotlight #RNAResearch

Lux Capital & @wolfejosh.bsky.social are launching the Lux Science Helpline - a $100M commitment to support American scientists whose research is threatened by funding cuts, bureaucratic hurdles, and career roadblocks - that expands our Lux Labs program. www.luxcapital.com/news/our-hel...

Given some recent publications regarding #RNA #Splicing prediction using #DeepLearning we decided to assess some of those claims with surprising findings that have to do more with the target function you chose… biociphers.wordpress.com/2025/04/09/t...

This is high art

To say that I am shocked at this tragic news is an understatement. I got to know Sayan well during my time at Duke; he was deeply knowledgeable about all sorts of things and had a great sense of humor. He was the one and only Bayesian anarchist. www.mis.mpg.de/news/loss-sa...

🏆 Research integrity consultant and image forensics expert @elisabethbik.bsky.social has uncovered fraudulent data in over 7,600 scientific papers and exposed the practices of ‘paper mills’ that produce counterfeit scientific articles. She is honoured with the €200K Individual Award. Congrats!

Hey all! The RNA Society meeting in San Diego features a new session for sharing results on new ways to bring RNA into the curriculum. Get your abstracts in ASAP!

Happy to say our paper with the Whipple lab on snoRNA target profiling with chimeric eCLIP is now out! Great work by co-first authors Joey & Min with the help of a bunch of other folks! genomebiology.biomedcentral.com/articles/10....

A tumultuous 24-ish hours since our preprint was released yesterday. I mentioned that this was a fraught issue and I genuinely do understand that people have mixed feelings about the work. I wanted to take some time to respond to some of the concerns and comments that have 1/

The success of LLMs has inspired their extension to genomics data. A preprints reports that such models lack understanding of genomics and provide minimal utility, even for basic tasks such as sequence classification. www.biorxiv.org/content/10.1...

Massively parallel reporter assays (MPRAs) testing >680,000 sequences combined with machine learning to improve regulatory element & variant effect prediction. Amazing work by @vagar.bsky.social, Fumitaka Inoue, @jshendure.bsky.social and many others as part of ENCODE. www.nature.com/articles/s41...

0/ Essential reading for anyone training or using sequence-function models trained on genomic sequences! 🚨 In our new preprint, we explore the ways homology within genomes can cause leakage when training sequence-based models and ways to prevent it

I'm excited about a meeting on RNA + AI together with @quaidmorris.bsky.social and @hagentilgner.bsky.social in Ascona, Ticino on May 4-8. We have a great line-up of speakers and room for you to present your work. Please join us if you are into RNA & AI. Registration open www.rna-ai.org.

📣 Our 2nd Blog post on improving #sQTL modeling and why it matters #RNASplicing #Genetics #Statistics #QTL biociphers.wordpress.com/2025/01/28/a...

📣 New post re our recent findings/methods dev for #sQTL #RNA #Splicing #RNA-Seq. We think this will be highly useful/impactful for (s)QTL detection/quantification. Hope to get (constructive 😉) feedback and much usage from the community! 😀 biociphers.wordpress.com/2025/01/20/a...

The first preprint of 2025! Together with Matvei, @halfacrocodile.bsky.social, & our amazing team, we are excited to share PARADE: an AI framework for designing mRNA UTRs with enhanced cell-type specificity & stability. www.biorxiv.org/content/10.1...

Our mentor Casey Brown, apart from being an extraordinary scientist, was a brilliant teacher who loved everything genetics. In his honor, some of the world's leading experts came together to create the 'Casey Brown Lecture Series' on human genetics 1/ shorturl.at/eCm7S

Happy New Year everyone. I having pleasing maths to share (courtesy of my 18yo who saw it on insta). 2025 is the only square this century! 🤓

Inaugural post "All-at-one RNA folding with 3D motif prediction framed by evolutionary information" www.biorxiv.org/content/10.1... Introducing CaCoFold-R3D by @aakaran31.bsky.social and myself @rivaselenarivas.bsky.social

Check out the latest Reviews and Perspectives from experts in RNA biology in this joint collection from @CellChemBiol and @MolecularCell http://dlvr.it/TGwFkr

Great! @UCSD Biomedical Informatics is recruiting new tenure-track faculty! Assistant Professor  https://buff.ly/49LX6rf ; Associate or Full Professor  

Most of the talks from our Oct meeting are now online, with a few more to come: www.precisionmedicine.columbia.edu/videos

Where RNA Science Meets AI, May 4–8, 2025, Ascona. Invited speakers: @evamarianovoa.bsky.social @fabiantheis.bsky.social @rivaselenarivas.bsky.social, Sterling Churchman, Barbara Treutlein, Rahul Satijia, Registration open www.rna-ai.org @hagentilgner.bsky.social @quaidmorris.bsky.social

Check out this systematic benchmark of genome-wide, annotation agnostic DNALMs & strong baseline ab-initio models for biologically meaningful tasks in regulatory genomics 1/

How I’m writing up studies from here on out

Is it Bad to leave Twitter? No. Here are 7+ years of insights from my lab’s research that explain why. Featuring work w/ @williambrady.bsky.social @killianmcloughlin.bsky.social 🧵

I'm making a list of AI for Science researchers on bluesky — let me know if I missed you / if you'd like to join! go.bsky.app/AcP9Lix

The first list filled up, so here's a second list of AI for Science researchers on bluesky. Let me know if I missed you / if you'd like to join! bsky.app/starter-pack...