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Posts by Jack Kosmicki

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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...

5 days ago 145 49 5 2

CONGRATULATIONS!!!!!!!!🎉🥳🥂 So happy for you and very well deserved!!!☺️

6 days ago 1 0 1 0
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Tucker Debates Biotech CEO on Baby Customization, Eugenics, and God’s Existence Spotify video

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...

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Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies - Nature Genetics Analyses of snRNA genes in a French cohort of people with rare disorders, with validation through international collaboration, identify monoallelic and biallelic variants in RNU2-2 as frequent causes ...

🤯 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...

2 weeks ago 6 3 0 0

I would never have been able to tell you were sleep deprived!

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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 . . . 😅

3 weeks ago 1 0 0 0

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.

3 weeks ago 904 157 72 68
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Integrating 730,947 exome sequences with clinical literature improves gene discovery Accurate estimates of allele frequencies aid in genetic discovery, including rare disease diagnosis, common disease investigations, and population genetics. Here, we present the Genome Aggregation Dat...

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...

3 weeks ago 36 17 2 1
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Invincible is one of my absolutely favorite comics😍

4 weeks ago 1 0 1 0

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]!

1 month ago 1 0 0 0

vibe reading papers with Claude is a game changer #vibereading

1 month ago 2 0 1 0

😂 I like blue too!!

But in all seriousness, hope you all recover quickly!

1 month ago 0 0 0 0
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Ancient bone found in Spain could be from Hannibal's war elephants It would be the first hard evidence that elephants were used in battle by General Hannibal.

I found @gingerhowley.bsky.social's next aDNA project ;)

www.bbc.com/news/article...

2 months ago 0 0 0 0
No ICE in Minnesota by jesthehuman and 651 others No ICE in Minnesota: 1439 items for $10.00

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...

2 months ago 4 2 3 0

🎉Congratulations Caleb! Such a creative and beautiful study and to top it off, so elegantly written.

2 months ago 1 0 1 0
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Population-scale sequencing resolves determinants of persistent EBV DNA - Nature Population-scale WGS reveals genetic determinants of persistent EBV DNA, linking immune regulation—especially antigen processing and MHC class II variation—to EBV persistence and heterogeneous di...

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...

2 months ago 77 26 4 8
The performance of genetic-constraint metrics varies significantly across the human noncoding genome A longstanding goal in human genetics is to prioritize noncoding loci that, when disrupted, lead to developmental disorders and other Mendelian traits. In pursuit of this goal, multiple metrics have been developed to distinguish neutrally evolving sequences from those subjected to purifying selection. These metrics are commonly evaluated genome-wide, e.g., by computing a precision-recall curve on windows tiling the entire noncoding genome. Here, we identify parts of the noncoding genome where these metrics significantly underperform relative to their genome-wide performance due to "bias" in the underlying models of neutral genetic variation and/or a low "signal-to-noise ratio" in the genetic data. The most extreme effects are found for Gnocchi (Chen et al. 2024), the performance of which declines as GC content increases. We suggest annotating constraint scores of noncoding genomic intervals with robust measures of the bias of the corresponding model, allowing users to gauge confidence in those scores. ### Competing Interest Statement The authors have declared no competing interest. National Institutes of Health, R01HG012252

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...

2 months ago 6 3 0 0
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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.

3 months ago 2 0 0 0

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 😉

3 months ago 4 1 0 0
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Embryo selection company Herasight goes all in on eugenics ...

I wrote about the bizarre case of Herasight, the embryo selection company going all in on eugenics.

4 months ago 124 82 6 15
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Get notifications on desktop and mobile from long-running jobs in your terminal sessions If you’re like me, you get tired of waiting for long-running jobs in the terminal. You run a new command, and you don’t really know how long it should take to finish. Will it be done in 30 seconds? 5 ...

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/

4 months ago 4 2 0 0
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Genetic analysis of 7,000 year old preserved goat leather from Cueva de los Murciélagos (Albuñol, Spain). Advances in ancient DNA research have expanded the range of materials from which genetic information can be recovered, enabling the analysis of atypical materials. These often preserve both host and e...

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.

4 months ago 35 11 1 0
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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...

4 months ago 34 19 1 0
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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.

4 months ago 34 9 1 0
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Microsoft Forms

Sumstats are currently available upon request: forms.office.com/r/qipvY8nNTK

4 months ago 0 0 0 0
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🚨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...

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Great use of AI 🙄

www.nature.com/articles/s41...

4 months ago 0 0 1 0
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Boston’s first-ever Michelin Guide revealed: See which restaurants made it The Michelin Guide has officially revealed which restaurants in Boston are worthy of its prestigious honor.

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/...

5 months ago 0 0 0 0
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Inferring Domestic Goat Demographic History Through Ancient Genome Imputation Abstract. Goats were among the earliest managed animals, making them a natural model to explore the genetic consequences of domestication. However, a chall

Our paper on imputation of ancient goat genomes is now available at GBE - congratulations to @jolijnerven.bsky.social #aDNA

5 months ago 37 15 0 2