Can you believe that until now there were more genomes sequenced for the woolly mammoth than for living African elephants?
Today, we bring you the first genomic, continent-scale analyses of 232 high-quality genomes of both species, the savanna and forest elephant.
www.nature.com/articles/s41...
Posts by Jack Kosmicki
CONGRATULATIONS!!!!!!!!🎉🥳🥂 So happy for you and very well deserved!!!☺️
Eugenics has really back into mainstream fashion (with an impressive PR rebranding as 'genetic optimization'🙄). Even Tucker Carlson is debating it.
open.spotify.com/episode/6SRl...
🤯 Wow, 3 Nature Genetics papers came out on Monday all covering another snRNA gene, RNU2-2, causing developmental disorders and epileptic encephalopathies.
www.nature.com/articles/s41...
www.nature.com/articles/s41...
www.nature.com/articles/s41...
I would never have been able to tell you were sleep deprived!
At long last, one's constraint analyses no longer have to be restricted to the autosomes🙏🏼🤩
Now to revise some reviewer responses in light of this . . . 😅
Project Hail Mary is a beautiful brilliant film. But molecular biologists be warned there's a deeply disturbing scene midway through when Ryan Gosling's scientist places two eppendorfs directly next to each other in an otherwise empty unbalanced microcentrifuge & sets it spinning with wild abandon.
Excited to share our new preprint on gnomAD v4! We present the full analysis of 730,947 exomes — new constraint metrics, improved LoF annotation (LOFTEE-2), LLM-based literature curation, and a unified framework for gene discovery and rare disease diagnosis. www.medrxiv.org/content/10.6...
Invincible is one of my absolutely favorite comics😍
It's mostly an interactive way to engage with the complete scope of the paper (main text, supplemental text/tables, and any code/data). Also being able to generate a slide deck that summarizes the entire interactive session is 🔥 [just make sure you install document and pptx skills]!
vibe reading papers with Claude is a game changer #vibereading
😂 I like blue too!!
But in all seriousness, hope you all recover quickly!
The No ICE in Minnesota is a fantastic deal. Lots of good video games and lots of physical games (TTRPG, etc) too! itch.io/b/3484/no-ic...
🎉Congratulations Caleb! Such a creative and beautiful study and to top it off, so elegantly written.
Today in @nature.com, we describe how discarded reads in biobank-scale WGS can help resolve the genetic predictors and consequences of Epstein-Barr Virus (EBV) infection.
Wonderful working with @ryandhindsa.bsky.social @sherrynyeo.bsky.social @erinmayc.bsky.social
www.nature.com/articles/s41...
A new preprint from Peter Mchale and Michael Goldberg in my group on the latent biases inherent to current models of non-coding constraint.
www.biorxiv.org/content/10.6...
It's truly a sad state of affairs when it takes longer to pull GWAS sumstats out of the AllofUs research platform than it takes to generate them.
Really nice work by @nbaya.bsky.social and co. showing that, as expected, individuals whose observed phenotype deviates from their genetically predicted trait are enriched for rare damaging variants in associated genes with said trait.
Now to see if embryo selection companies pick up on this 😉
You run a new command in #rlang #python #bash, and you don’t really know how long it should take.
Will it be done in 30 seconds? 5 minutes? 45 minutes? Longer? 😫
An automatic notification might help to stay focused on #programming
Let me introduce you to ntfy.sh
slowkow.com/notes/ntfy/
Another #aDNA preprint! We recovered DNA from 7,000 year old (!) goat leather from Cueva de los Murciélagos - and see a genetic link with Bermeya goats today!
Credit to Francisco Martínez-Sevilla for seeing me on Youtube(?!) + reaching out to collaborate - there's still value in the internet.
Excited to share our new FinnGen single-nucleus multiome preprint! 🧬
We profiled ~10M PBMCs (snRNA-seq + snATAC-seq) from 1,108 Finnish donors to map how genetic variants drive complex disease through chromatin and gene regulation 🧵👇
🔗 Link: www.medrxiv.org/content/10.1...
Massive single-cell study by Kanai et al (www.medrxiv.org/content/10.1...):
- Once statistical power is high, constrained genes have more (though weaker) eQTLs.
- Chromatin-QTLs near constrained genes have "normal" effect sizes, colocalize more with disease, but exhibit attenuated peak-gene effects.
🚨Nearly all GWAS is done in adults - making inferences about genetic effects in children or child-specific traits/diseases impossible to know.
A huge study of 80.6k Japanese children covering 1.1k GWASes (many for the first time) by is now out www.medrxiv.org/content/10.1...
Great use of AI 🙄
www.nature.com/articles/s41...
Yes, Boston's food scene is . . . underwhelming at best. The only restaurant to receive a ⭐️ was 311 Omakase - not the local favorites - Sarma, Oleana, Mooncusser, Nightshade Noodle Bar (which frankly are all massively overrated).
www.masslive.com/boston/2025/...
Our paper on imputation of ancient goat genomes is now available at GBE - congratulations to @jolijnerven.bsky.social #aDNA