Excited to share my first preprint on federated conditional analysis of rare single variant and aggregate association tests across six genetically-inferred ancestry groups in All of Us and UK Biobank doi.org/10.64898/202...
Excited to share my first preprint on federated conditional analysis of rare single variant and aggregate association tests across six genetically-inferred ancestry groups in All of Us and UK Biobank doi.org/10.64898/202...
Hi network ๐
โฐ Donโt miss it! #EMGM2026 in Davos (Switzerland) ๐๏ธ
๐
14โ15 April 2026
๐ Abstract deadline: 1 February 2026
โ๏ธ Travel grants available
๐ค Amazing lineup of invited speakers
๐ Details: emgm2026.sciencesconf.org
Hi #ASHG2025, the Lausanne team made it to Boston ! Excited to present our latest discoveries โ come say hi and learn more about our research! @samuelmoix.bsky.social @rjhfmstr.bsky.social
I'm excited to share our pre-print about a new variant benchmarking tool we've been working on for the past few months!
Aardvark: Sifting through differences in a mound of variants
GitHub: github.com/PacificBiosc...
Some highlights in this thread:
1/N
Curious about the technical details of the parental haplotype reconstruction that powers this assortative mating study? ๐งฌ
Check out our recent @nature.com
paper: www.nature.com/articles/s41...
Big thanks to the amazing team behind this work and funders ๐
This project was collaborative across Switzerland ๐จ๐ญ, Estonia ๐ช๐ช, Italy ๐ฎ๐น, and supervised by @zkutalik.bsky.social !
@snsf.ch @unil.bsky.social @fbm-unil.bsky.social
The big picture: assortative mating has intensified in recent generations.
Especially for height and education.
This means biases in GWAS & downstream analyses are likely stronger in younger cohorts.
Most approaches need genotyped couples (rare in biobanks) or rely on long-term signals.
Our haplotype-based method uses our recent inter-chromosomal phasing method to separate maternal & paternal haplotypes, then correlates partial parental polygenic scores to measure assortment.
๐จ New preprint out!
We reconstructed parental haplotypes in >440k individuals (UK & Estonian biobanks) to estimate assortative mating directly in the parental generation.
This reveals intensified assortment in recent generations.
www.biorxiv.org/content/10.1...
Traits like disease risk can be affected differently, and in opposite ways, depending on which parent the genetic variant responsible comes from. Work led by SIB scientists @zkutalik.bsky.social & Robin Hofmeister at @unil.bsky.social/UniSantรฉ & published in Nature๐
www.sib.swiss/news/the-imp...
Congratulations to Zoltan @zkutalik.bsky.social , Robin @rjhfmstr.bsky.social and the whole team for this fantastic work out today in โช@nature.com ๐ โฌย www.nature.com/articles/s41... Your parents' genome matters more than you think ๐https://www.unil.ch/dbc/en/home.html @fbm-unil.bsky.social
Study of 230,000 people finds many examples where the effect of a genetic variant differs depending on the parent of origin, especially for growth and metabolism - fascinating!
Amazing study, congrats @rjhfmstr.bsky.social, @zkutalik.bsky.social and team ๐
Extremely cool paper from @rjhfmstr.bsky.social @zkutalik.bsky.social and team. I still need to get my head around how the same genetic variant has opposite effects depending if itโs maternally or paternally inherited and why.
@snsf.ch @estresearchcouncil.bsky.social @fannydhelia.bsky.social @jaanikakronberg.bsky.social @mvaudel.bsky.social @srubinacci.bsky.social @lilimilani.bsky.social @natureportfolio.nature.com
Dirigรฉe par @zkutalik.bsky.social et @rjhfmstr.bsky.social ร la @fbm-unil.bsky.social, au @sib.swiss et ร #unisantรฉ, une nouvelle รฉtude publiรฉe dans @nature.com prรฉsente une mรฉthode computationnelle innovante pour รฉtudier ces effets liรฉs ร lโorigine parentale.
๐ www.nature.com/articles/s41...
Thrilled to see this project come to life โ a huge team effort with collaborators in ๐จ๐ญ ๐ช๐ช ๐ณ๐ด! Huge thanks to all co-authors and funders!
@zkutalik.bsky.social @lilimilani.bsky.social @srubinacci.bsky.social @adriaan-vd-graaf.bsky.social @unil.bsky.social @estbiobank.bsky.social and many more !
The paper comes with:
A Nature Research Briefing ๐ www.nature.com/articles/d41...
Press releases from our local press:
๐ www.unil.ch/news/fr/1754...
๐ www.sib.swiss/fr/news/limp...
Open data & tools for the community :
๐ rjhfmstr.github.io/THORIN/
All bi-polar effects involve growth & metabolism, giving one of the strongest evidence yet for the genetic conflict hypothesis โ๏ธ
This evolutionary โtug-of-warโ:
Dadโs genes โ push growth
Momโs genes โ limit growth to save resources
By separating maternal and paternal genomes, we discovered >30 parent-of-origin effects, including bi-polar effects:
โก๏ธ Allele from one parent โ trait
โก๏ธ Allele from the other parent โ trait
These findings expose a hiding pattern of genetic effect in biobank data.
๐จ Our parent-of-origin study is out in Nature! ๐งฌ
Maternal and paternal alleles can have distinct โ even opposite โ effects on human traits, revealing a hidden layer of genetic architecture that standard GWAS miss.
๐ www.nature.com/articles/s41...
Highlights below!
Thrilled to receive the Early Career Award for my presentation at #ESHG2025! ๐งฌ
Big thanks to all the amazing collaborators on this project โ couldn't have done it without you.
Grateful to the organizers and inspired by the science shared this week!
Particularly interesting talk from @rjhfmstr.bsky.social @ #ESHG25. Impressive work coming out of @unil.bsky.social ๐งฌ๐
๐ Hi #ESHG2025, the Statistical Genetics Group and alumni (@zkutalik.bsky.social) is coming in force!โจ
Check out our latest work on human genetics!
โจ๐Come see our talks & posters, or reach out to meet us!
Very excited to give a virtual talk as part of the
@eshg.bsky.social
webinar series tomorrow at 4pm (CEST). If you want to listen in, register here: wma.eventsair.com/eshg-webinar... I will talk about all the exciting things we can learn from GWAS summary statistics...
๐จ New paper ๐จ
Do known genetic factors for obesity and type 2 diabetes affect weight loss from GLP1-RA (Ozempic) or bariatric surgery?
๐ 10,960 people, 9 biobanks, 6 countries
๐งฌ Minimal genetic impact on GLP1-RA response
๐ Modest effect after surgery
www.nature.com/articles/s41...
After 6 (healthy) months of hiatus from social media, first post with a brand new conference announcement!! ๐ฅCOMPUTATIONAL BIOLOGY IS EVERYWHERE! Join us in Lausanne for the first international Computational Biology Symposium! 18-19 September 2025 Registrations are OPEN! cbiosymposium.unil.ch
Only two weeks left to apply to the Leena Peltonen School of Human Genomics.
Stellar faculty, free accommodation and no registration fee.
Unique format: 20 students:20 tutors, presenting their science and learning together.
lpshg.com
Here are some cool animations I made a couple years ago for teaching DAG-based causal inference
Confounding!
EMGM2025 abstract deadline extended โ 09/02 (final). Conference 8-9 April, Brest, France. Everything statistical and population genetics, genetic epidemiology, bioinformaticsโฆ Invited speakers: Cรฉline Bon, Beatriz Cuyabano, Garrett Hellenthal. emgm2025.sciencesconf.org
Just 10 days to go until the EMGM2025 abstract submission deadline!
emgm2025.sciencesconf.org?lang=en
Registration is also now up and running.
Hope to see you all in Brest