DNA methylation signatures of mismatch repair-deficient colorectal cancer www.biorxiv.org/content/10.64898/2026.04...
Posts by Steve Thorn
This is quite extraordinary- scientists set a kind of trap for AI chat bots by inventing a fake disease. AI told people it was real and… the deliberately bogus preprints started being cited in peer reviewed literature 🫣
🧪 #MedSky
www.nature.com/articles/d41...
If you have unsolved exome cases, go back and look at the synonymous variants you threw away.
Overlay with ChIP-seq or ATAC-seq for the relevant tissue.
The genetic code is multiplexed. Protein effect is one layer of many.
pmc.ncbi.nlm.nih.gov/articles/PM...
New preprint with Garnett lab 🚀: from descriptive → causal single-cell atlases in CRC.We build the largest CRC atlas (>300 pts, 1.5M cells) using continual learning, and link cell states to causal drivers via Tahoe-100M, validated in organoids! www.biorxiv.org/content/10.6...
#rstats #dataviz
A new kid on the dataviz block is the predictions plot, showing how predictors in lm()/glm() contribute to
the predicted response. A novel and useful idea!
TAS: doi.org/10.1080/0003...
Implemented in the {classmap} package.
Chronic inflammation has long been linked to cancer, but how is that history retained in the tissue?
In a new #Nature study, Nagaraja et al show that colitis leaves a lasting epigenetic memory in colonic stem cells, which persists after inflammation resolves & primes for subsequent tumor growth 🧪🔬
SMAD4 loss drives chromosomal instability during tumourigenesis via translational reprogramming www.biorxiv.org/content/10.64898/2026.03...
AI-generated cartoon of a computational biologist and wet-lab biologist collaborating on a research project
✂️🧬preprint!
"Quantitative prediction of nonsense-mediated #mRNA decay across human genes by #genomic language #model & large-scale mutational scanning"
Fantastic teamwork by @IgnasiToledano 👨🔬and @MarcellVeiner👨💻. We combine massive experiment and sequence AI to elucidate NMD👇
Celebrating the draft FDA Bayesian guidance document with our perspective in @jama.com. Honored to co-author w/Jack Lee (MD Anderson), Lisa LaVange (past director of Office of Biostatistics FDA CDER&president of ASA),& my Bayesian inspiration Sir David Spiegelhalter jamanetwork.com/journals/jam...
This review explores the dual role of #Rloops—three-strand nucleic acid structures that regulate genes yet threaten #GenomeStability—highlighting their impact on #DNAdamage and repair as a promising avenue for therapeutic innovation.
#OpenAccess: doi.org/10.1016/j.ge...
AI to understand the language of life.
Our review just published
nature.com/articles/s41...
Free access rdcu.be/e89lQ
Why should tumor whole genome sequencing (WGS) be done for cancer?
In real practice of medicine study of 888 patients with solid cancers, WGS directly led to clinical consequences in over 40%
www.nature.com/articles/s41...
In case you missed it-- check out our Paper Skygest preprint! ⤵️
A complete set of canonical nucleobases in the carbonaceous asteroid (162173) Ryugu 🧬🛸 www.nature.com/articles/s41...
‘Can it run Doom?’ In the latest, scientists reported that they had taught neurons grown on a silicon chip to play the game
🧪
www.nature.com/articles/d41...
The AI co-scientist is here www.nature.com/articles/s41... 🧬💻🧪 rdcu.be/e8xmk
DNA methylation variability defines a fundamental dimension of tumor epigenomes linked to genomic instability, tumor aggressiveness, and clinical outcomes www.biorxiv.org/content/10.64898/2026.03...
Scientists show #lncRNA AC004854.2 drives #ColorectalCancer by disrupting the PUF60–FUBP1 complex to boost #cMYC transcription; forming a SOX4/AC004854.2/PUF60/c-MYC axis that promotes #tumor growth, attenuated by c-MYC inhibition.
#OpenAccess: doi.org/10.1016/j.ge...
"AI is here to stay...From writing to reviewing...It is essential to engage with it [&] develop use cases that benefit the community...The clear winning option is use of AI review by authors prior to submission.” link.springer.com/article/10.1... via @tlemberger.bsky.social @odedrechavi.bsky.social
Gene regulatory networks: from correlative models to causal explanations www.nature.com/articles/s41... 🧬💻🧪 rdcu.be/e7DIE
How much does it pay to publish an open access academic book? Read this thread for my story and 💲💰 amounts. 🧵
www.routledge.com/9781032908724
From @narjournal.bsky.social #NARCriticalReviewsAndPerspectives | #Nucleosome spacing across cell types, diseases, and ages | #Bioinformatics #NucleosomeMappingData #OpenScience #Review 🧬 🖥️🧪🔓
⬇️
academic.oup.com/nar/article/...
Wonder which tandem repeat genotyper to use on your Oxford Nanopore genomes? We benchmarked 7 tools on >100 ONT genomes. We assessed usability, assembly concordance, Mendelian consistency, and sensitivity to pathogenic expansions. www.biorxiv.org/content/10.6...
🖥️ 🧬
@cubiomedinfo.bsky.social
What Do Biological Foundation Models Compute? Sparse Autoencoders from Feature Recovery to Mechanistic Interpretability #SingleCell 🧪🧬🖥️
www.biorxiv.org/content/10.64898/2026.03...
Ewen's writeup of the new Evo 2 paper in Nature is reliably good. I can imagine this foundation model will be useful for doing synthetic biology in microbes.
But it's important to recognize that making this work for eg humans is not just a scaling-up issue...
www.nature.com/articles/d41...
Genome modelling and design across all domains of life with Evo 2 www.nature.com/articles/s41...
A pan-cancer compendium of 1,294 plasma cell-free DNA methylomes and fragmentomes enabling multicancer detection www.nature.com/articles/s4...
This review examines lysine #crotonylation (Kcr) as a widespread #PostTranslationalModification regulating gene expression, #DNArepair, protein stability, and disease, highlighting crosstalk with #acetylation and other PTMs as therapeutic targets.
Read: doi.org/10.1016/j.ge...
This week's cover @thelancet.com
Multimodal foundation transformer models for multiscale genomics www.nature.com/articles/s4...