Jack Kosmicki
@jakphd.bsky.social
Statistical geneticist @ Regeneron
tweets are my own | he/him/his
tweets are my own | he/him/his
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.
January 12, 2026 at 11:44 PM
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 😉
Now to see if embryo selection companies pick up on this 😉
Why do some individuals defy their polygenic score?
In the largest study of its kind (402k UKB individuals; 7 continuous traits + 3 diseases), we asked: If your phenotype deviates from common-variant polygenic score prediction, what's driving that difference?
www.medrxiv.org/content/10.6...
In the largest study of its kind (402k UKB individuals; 7 continuous traits + 3 diseases), we asked: If your phenotype deviates from common-variant polygenic score prediction, what's driving that difference?
www.medrxiv.org/content/10.6...
January 7, 2026 at 5:46 AM
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 😉
Now to see if embryo selection companies pick up on this 😉
Reposted by Jack Kosmicki
I wrote about the bizarre case of Herasight, the embryo selection company going all in on eugenics.
Embryo selection company Herasight goes all in on eugenics
...
open.substack.com
December 13, 2025 at 8:16 PM
I wrote about the bizarre case of Herasight, the embryo selection company going all in on eugenics.
Reposted by Jack Kosmicki
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/
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/
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 ...
slowkow.com
December 4, 2025 at 2:55 PM
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/
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/
Reposted by Jack Kosmicki
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.
Credit to Francisco Martínez-Sevilla for seeing me on Youtube(?!) + reaching out to collaborate - there's still value in the internet.
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...
www.biorxiv.org
December 3, 2025 at 7:42 AM
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.
Credit to Francisco Martínez-Sevilla for seeing me on Youtube(?!) + reaching out to collaborate - there's still value in the internet.
Reposted by Jack Kosmicki
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...
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...
December 1, 2025 at 3:36 PM
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...
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...
Reposted by Jack Kosmicki
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.
- 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.
November 30, 2025 at 5:06 PM
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.
- 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...
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...
December 1, 2025 at 7:41 PM
🚨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...
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...
December 1, 2025 at 6:23 PM
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/...
www.masslive.com/boston/2025/...
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.
www.masslive.com
November 19, 2025 at 2:21 AM
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/...
www.masslive.com/boston/2025/...
Reposted by Jack Kosmicki
Our paper on imputation of ancient goat genomes is now available at GBE - congratulations to @jolijnerven.bsky.social #aDNA
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
academic.oup.com
November 10, 2025 at 6:49 PM
Our paper on imputation of ancient goat genomes is now available at GBE - congratulations to @jolijnerven.bsky.social #aDNA
🚨I did my PhD at Harvard and it fundamentally shaped who I am today. It's extremely sad to see their PhD admission cuts for the next 2 years.
- Science ⬇️75%
- Arts & Humanities ⬇️60%
- Social Sciences ⬇️50–70%
- History ⬇️60%
- Org. & Evo. Bio. ⬇️75%
- German ⬇️100%
www.thecrimson.com/article/2025...
- Science ⬇️75%
- Arts & Humanities ⬇️60%
- Social Sciences ⬇️50–70%
- History ⬇️60%
- Org. & Evo. Bio. ⬇️75%
- German ⬇️100%
www.thecrimson.com/article/2025...
Harvard FAS Cuts Ph.D. Seats By More Than Half Across Next Two Admissions Cycles | News | The Harvard Crimson
The Faculty of Arts and Sciences slashed the number of Ph.D. student admissions slots for the Science division by more than 75 percent and for the Arts & Humanities division by about 60 percent for th...
www.thecrimson.com
October 21, 2025 at 9:22 PM
🚨I did my PhD at Harvard and it fundamentally shaped who I am today. It's extremely sad to see their PhD admission cuts for the next 2 years.
- Science ⬇️75%
- Arts & Humanities ⬇️60%
- Social Sciences ⬇️50–70%
- History ⬇️60%
- Org. & Evo. Bio. ⬇️75%
- German ⬇️100%
www.thecrimson.com/article/2025...
- Science ⬇️75%
- Arts & Humanities ⬇️60%
- Social Sciences ⬇️50–70%
- History ⬇️60%
- Org. & Evo. Bio. ⬇️75%
- German ⬇️100%
www.thecrimson.com/article/2025...
Reposted by Jack Kosmicki
Just in time for #ASHG2025, a new FinnGen public data release is live!
This release features the first clinical laboratory value association results. Analyses cover 383 lab measurements (OMOPIDs) with data from ≥1,000 participants each.
Access the results here: www.finngen.fi/en/access_re...
This release features the first clinical laboratory value association results. Analyses cover 383 lab measurements (OMOPIDs) with data from ≥1,000 participants each.
Access the results here: www.finngen.fi/en/access_re...
October 14, 2025 at 2:17 PM
Just in time for #ASHG2025, a new FinnGen public data release is live!
This release features the first clinical laboratory value association results. Analyses cover 383 lab measurements (OMOPIDs) with data from ≥1,000 participants each.
Access the results here: www.finngen.fi/en/access_re...
This release features the first clinical laboratory value association results. Analyses cover 383 lab measurements (OMOPIDs) with data from ≥1,000 participants each.
Access the results here: www.finngen.fi/en/access_re...
Reposted by Jack Kosmicki
We’re getting ready for an exciting week at #ASHG2025 in Boston! Come meet the FinnGen team at booth 147 - we’ll be sharing updates and showcasing new public resources and tools. Plus, don’t miss the various presentations featuring FinnGen results across the program!
www.finngen.fi/en/meet-finn...
www.finngen.fi/en/meet-finn...
Meet FinnGen at the ASHG 2025! | FinnGen
Results based on the FinnGen data are presented in almost 40 talks or posters during the 2025 Annual Meeting of the American Society of Human Genetics (ASHG) in Boston, October 14-18. We also have a b...
www.finngen.fi
October 10, 2025 at 11:59 AM
We’re getting ready for an exciting week at #ASHG2025 in Boston! Come meet the FinnGen team at booth 147 - we’ll be sharing updates and showcasing new public resources and tools. Plus, don’t miss the various presentations featuring FinnGen results across the program!
www.finngen.fi/en/meet-finn...
www.finngen.fi/en/meet-finn...
Reposted by Jack Kosmicki
📃 We’re excited to share our latest work, now published in Nature Communications — a major update to the Genome Aggregation Database (gnomAD) that improves allele frequency resolution for two gnomAD-defined genetic ancestry groups using local ancestry inference (LAI).
Improved allele frequencies in gnomAD through local ancestry inference - Nature Communications
This study incorporates local ancestry into the Genome Aggregation Database (gnomAD) to improve allele frequency estimates for admixed populations, enhancing variant interpretation and enabling more accurate and equitable genomic research and clinical care.
www.nature.com
October 6, 2025 at 6:31 PM
📃 We’re excited to share our latest work, now published in Nature Communications — a major update to the Genome Aggregation Database (gnomAD) that improves allele frequency resolution for two gnomAD-defined genetic ancestry groups using local ancestry inference (LAI).
Reposted by Jack Kosmicki
Very happy to see our pre-print on ancient Irish goat genetics on bioRxiv #aDNA #spiergorm
I want to acknowledge this was only possible through the work of the late Dr. Judith Findlater, along with Prof. Eileen Murphy at @qubelfastofficial.bsky.social.
I want to acknowledge this was only possible through the work of the late Dr. Judith Findlater, along with Prof. Eileen Murphy at @qubelfastofficial.bsky.social.
Old Goats: 3,000 years of genetic connectivity of the domestic goat in Ireland
The domestic goat likely first arrived to the island of Ireland as part of the introduction of agriculture approximately 5,900 years ago, and remains a part of the island's biocultural heritage. Howev...
www.biorxiv.org
September 28, 2025 at 9:49 AM
Very happy to see our pre-print on ancient Irish goat genetics on bioRxiv #aDNA #spiergorm
I want to acknowledge this was only possible through the work of the late Dr. Judith Findlater, along with Prof. Eileen Murphy at @qubelfastofficial.bsky.social.
I want to acknowledge this was only possible through the work of the late Dr. Judith Findlater, along with Prof. Eileen Murphy at @qubelfastofficial.bsky.social.
Reposted by Jack Kosmicki
Interested in goats 🐐? Read our pre-print on ancient Irish goats and their connection to the Old Irish goat breed
Just look at this dashing individual, courtesy of the Old Irish Goat society
Just look at this dashing individual, courtesy of the Old Irish Goat society
September 29, 2025 at 8:47 AM
Interested in goats 🐐? Read our pre-print on ancient Irish goats and their connection to the Old Irish goat breed
Just look at this dashing individual, courtesy of the Old Irish Goat society
Just look at this dashing individual, courtesy of the Old Irish Goat society
Reposted by Jack Kosmicki
I'd like to announce the medRxiv preprint of our latest work:
A multimodal atlas of COVID-19 severity identifies hallmarks of dysregulated immunity.
www.medrxiv.org/content/10.1...
A multimodal atlas of COVID-19 severity identifies hallmarks of dysregulated immunity.
www.medrxiv.org/content/10.1...
September 22, 2025 at 11:44 PM
I'd like to announce the medRxiv preprint of our latest work:
A multimodal atlas of COVID-19 severity identifies hallmarks of dysregulated immunity.
www.medrxiv.org/content/10.1...
A multimodal atlas of COVID-19 severity identifies hallmarks of dysregulated immunity.
www.medrxiv.org/content/10.1...
Kristin Tsuo, @genetisaur.bsky.social, & Mark Daly just wrote the best proteomics paper I've read.
They convincingly show how smoking and alcohol (aka, the environment) dramatically influences proteomics data.
Some 🤯 results
1) proteomics predicts frequency (5a) & quanity (5b) of alcohol consumed
They convincingly show how smoking and alcohol (aka, the environment) dramatically influences proteomics data.
Some 🤯 results
1) proteomics predicts frequency (5a) & quanity (5b) of alcohol consumed
September 11, 2025 at 3:03 PM
Kristin Tsuo, @genetisaur.bsky.social, & Mark Daly just wrote the best proteomics paper I've read.
They convincingly show how smoking and alcohol (aka, the environment) dramatically influences proteomics data.
Some 🤯 results
1) proteomics predicts frequency (5a) & quanity (5b) of alcohol consumed
They convincingly show how smoking and alcohol (aka, the environment) dramatically influences proteomics data.
Some 🤯 results
1) proteomics predicts frequency (5a) & quanity (5b) of alcohol consumed
Reposted by Jack Kosmicki
I will be recruiting two PhDs for my ERC Project HERDPATH - let's discover out how livestock and pathogens evolved together using #aDNA. Projects will be animal or pathogen focused but will be in dialogue.
Details at my quaint website below. Deadline 3rd October.
kevingdaly.github.io
Details at my quaint website below. Deadline 3rd October.
kevingdaly.github.io
Ruminant Palaeogenomics - Kevin G. Daly: Ruminant Palaeogenomics
kevingdaly.github.io
September 5, 2025 at 10:57 AM
I will be recruiting two PhDs for my ERC Project HERDPATH - let's discover out how livestock and pathogens evolved together using #aDNA. Projects will be animal or pathogen focused but will be in dialogue.
Details at my quaint website below. Deadline 3rd October.
kevingdaly.github.io
Details at my quaint website below. Deadline 3rd October.
kevingdaly.github.io
Reposted by Jack Kosmicki
Second craziest thing you'll read today: from 2026 I will be leading an @erc.europa.eu Starter Grant project. HERDPATH will explore how livestock and their pathogens co-evolved during the last 10,000 years. PhD advertisements to come!
Press release below with one of the few good photos of me.
Press release below with one of the few good photos of me.
| UCD Research
www.ucd.ie
September 4, 2025 at 10:14 AM
Second craziest thing you'll read today: from 2026 I will be leading an @erc.europa.eu Starter Grant project. HERDPATH will explore how livestock and their pathogens co-evolved during the last 10,000 years. PhD advertisements to come!
Press release below with one of the few good photos of me.
Press release below with one of the few good photos of me.
😂 A WashU professor embezzled $412k and used the money to buy . . . *checks notes* . . . collectible trading cards
www.justice.gov/usao-edmo/pr...
www.justice.gov/usao-edmo/pr...
a close up of a pokemon card with foreign writing
ALT: a close up of a pokemon card with foreign writing
media.tenor.com
August 29, 2025 at 4:26 PM
😂 A WashU professor embezzled $412k and used the money to buy . . . *checks notes* . . . collectible trading cards
www.justice.gov/usao-edmo/pr...
www.justice.gov/usao-edmo/pr...
Reposted by Jack Kosmicki
Shameless promotion from #isba11 - I'll be hiring PhDs to start early 2026 (plus postdocs starting later), using #adna to study livestock and pathogen coevolution, particularly looking at inbreeding and immune gene evolution!
Contact me at kevin[at]palaeome.org, full ad to come. Please share!
Contact me at kevin[at]palaeome.org, full ad to come. Please share!
August 27, 2025 at 3:44 PM
Reposted by Jack Kosmicki
As for other fields, like human genetics and neuroimaging, it is clear that small, under-powered studies (often with uncorrected stats and no replication sample) JUST GENERATE NOISE.
July 27, 2025 at 9:11 AM
As for other fields, like human genetics and neuroimaging, it is clear that small, under-powered studies (often with uncorrected stats and no replication sample) JUST GENERATE NOISE.
A tale of two DTC DNA companies.
While 23andMe is dealing with the bankruptcy fallout, Ancestry is sponsoring Ryan Reynolds' and Rob McElhenney's Welsh football club, Wrexham AFC.
PS: I loved watching Welcome to Wrexham ❤️
www.wrexhamafc.co.uk/news/2025/ju...
While 23andMe is dealing with the bankruptcy fallout, Ancestry is sponsoring Ryan Reynolds' and Rob McElhenney's Welsh football club, Wrexham AFC.
PS: I loved watching Welcome to Wrexham ❤️
www.wrexhamafc.co.uk/news/2025/ju...
COMMERCIAL | Ancestry Confirmed as Wrexham AFC Official Club Partner
Wrexham AFC are pleased to announce Ancestry as our new official family history partner, with the company’s brand to feature on the front of our new 2025/26 training wear – as worn for the first time ...
www.wrexhamafc.co.uk
July 8, 2025 at 1:44 PM
A tale of two DTC DNA companies.
While 23andMe is dealing with the bankruptcy fallout, Ancestry is sponsoring Ryan Reynolds' and Rob McElhenney's Welsh football club, Wrexham AFC.
PS: I loved watching Welcome to Wrexham ❤️
www.wrexhamafc.co.uk/news/2025/ju...
While 23andMe is dealing with the bankruptcy fallout, Ancestry is sponsoring Ryan Reynolds' and Rob McElhenney's Welsh football club, Wrexham AFC.
PS: I loved watching Welcome to Wrexham ❤️
www.wrexhamafc.co.uk/news/2025/ju...