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Reposted by Robin Hofmeister

Matt Holt @holtjma.bsky.social · 2d

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:
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Robin Hofmeister @rjhfmstr.bsky.social · 12d

Curious about the technical details of the parental haplotype reconstruction that powers this assortative mating study? 🧬
Check out our recent @nature.com
paper: www.nature.com/articles/s41...

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Robin Hofmeister @rjhfmstr.bsky.social · 12d

Big thanks to the amazing team behind this work and funders 🙏
This project was collaborative across Switzerland 🇨🇭, Estonia 🇪🇪, Italy 🇮🇹, and supervised by @zkutalik.bsky.social !
@snsf.ch @unil.bsky.social @fbm-unil.bsky.social

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Robin Hofmeister @rjhfmstr.bsky.social · 12d

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.

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Robin Hofmeister @rjhfmstr.bsky.social · 12d

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.

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Robin Hofmeister @rjhfmstr.bsky.social · 12d

🚨 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...

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Reposted by Robin Hofmeister

SIB Swiss Institute of Bioinformatics @sib.swiss · Aug 6

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/UniSanté & published in Nature👇

www.sib.swiss/news/the-imp...

The impact of genetic variants can depend on the parent they come from

Traits such as height, metabolism, and disease risk can be affected differently – and even in opposite directions – depending on whether the genetic variant responsible is inherited from the mothe...

www.sib.swiss

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Reposted by Robin Hofmeister

Giovanni Ciriello @ciriellolab.bsky.social · Aug 7

Congratulations to Zoltan @zkutalik.bsky.social , Robin @rjhfmstr.bsky.social and the whole team for this fantastic work out today in ‪@nature.com 👍 ‬ www.nature.com/articles/s41... Your parents' genome matters more than you think 😉https://www.unil.ch/dbc/en/home.html @fbm-unil.bsky.social

Parent-of-origin effects on complex traits in up to 236,781 individuals - Nature

A novel multistep strategy reveals how parent-of-origin effects shape complex traits in large-scale biobanks.

www.nature.com

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Reposted by Robin Hofmeister

Luke Pilling @lcpilling.bsky.social · Aug 22

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 👏

Robin Hofmeister @rjhfmstr.bsky.social · Aug 6

🚨 Our parent-of-origin study is out in Nature! 🧬
Maternal and paternal alleles can have distinct — even opposite — effects on human traits, revealing a hidden layer of genetic architecture that standard GWAS miss.
🔗 www.nature.com/articles/s41...

Highlights below!

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Reposted by Robin Hofmeister

Nicola Pirastu @npirastu.bsky.social · Aug 22

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 it’s maternally or paternally inherited and why.

Robin Hofmeister @rjhfmstr.bsky.social · Aug 6

🚨 Our parent-of-origin study is out in Nature! 🧬
Maternal and paternal alleles can have distinct — even opposite — effects on human traits, revealing a hidden layer of genetic architecture that standard GWAS miss.
🔗 www.nature.com/articles/s41...

Highlights below!

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Reposted by Robin Hofmeister

fbm-unil.bsky.social @fbm-unil.bsky.social · Aug 7

@snsf.ch @estresearchcouncil.bsky.social @fannydhelia.bsky.social @jaanikakronberg.bsky.social @mvaudel.bsky.social @srubinacci.bsky.social @lilimilani.bsky.social @natureportfolio.nature.com

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Reposted by Robin Hofmeister

fbm-unil.bsky.social @fbm-unil.bsky.social · Aug 7

Dirigée par @zkutalik.bsky.social et @rjhfmstr.bsky.social à la @fbm-unil.bsky.social, au @sib.swiss et à #unisanté, une nouvelle étude publiée dans @nature.com présente une méthode computationnelle innovante pour étudier ces effets liés à l’origine parentale.
🔗 www.nature.com/articles/s41...

Parent-of-origin effects on complex traits in up to 236,781 individuals - Nature

A novel multistep strategy reveals how parent-of-origin effects shape complex traits in large-scale biobanks.

www.nature.com

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Robin Hofmeister @rjhfmstr.bsky.social · Aug 6

Thrilled to see this project come to life — a huge team effort with collaborators in 🇨🇭 🇪🇪 🇳🇴! 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 !

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Robin Hofmeister @rjhfmstr.bsky.social · Aug 6

The paper comes with:
A Nature Research Briefing 🔗 www.nature.com/articles/d41...

Press releases from our local press:
🔗 www.unil.ch/news/fr/1754...
🔗 www.sib.swiss/fr/news/limp...

Open data & tools for the community :
🔗 rjhfmstr.github.io/THORIN/

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Robin Hofmeister @rjhfmstr.bsky.social · Aug 6

All bi-polar effects involve growth & metabolism, giving one of the strongest evidence yet for the genetic conflict hypothesis ⚔️

This evolutionary “tug-of-war”:

Dad’s genes → push growth
Mom’s genes → limit growth to save resources

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Robin Hofmeister @rjhfmstr.bsky.social · Aug 6

By separating maternal and paternal genomes, we discovered >30 parent-of-origin effects, including bi-polar effects:
➡️ Allele from one parent ↑ trait
➡️ Allele from the other parent ↓ trait
These findings expose a hiding pattern of genetic effect in biobank data.

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Robin Hofmeister @rjhfmstr.bsky.social · Aug 6

🚨 Our parent-of-origin study is out in Nature! 🧬
Maternal and paternal alleles can have distinct — even opposite — effects on human traits, revealing a hidden layer of genetic architecture that standard GWAS miss.
🔗 www.nature.com/articles/s41...

Highlights below!

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Robin Hofmeister @rjhfmstr.bsky.social · May 28

Thrilled to receive the Early Career Award for my presentation at #ESHG2025! 🧬
Big thanks to all the amazing collaborators on this project — couldn't have done it without you.
Grateful to the organizers and inspired by the science shared this week!

Zoltán Kutalik @zkutalik.bsky.social · May 28

Extremely proud of @rjhfmstr.bsky.social for his @eshg.bsky.social Early Career Award received yesterday in Milan. A truly deserved recognition of his outstanding presentation and ingenious research on parent-of-origin effect inference! #ESHG2025

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Dennis Bontempi, Ph.D. @denbonte.bsky.social · May 26

Particularly interesting talk from @rjhfmstr.bsky.social @ #ESHG25. Impressive work coming out of @unil.bsky.social 🧬🚀

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Robin Hofmeister @rjhfmstr.bsky.social · May 24

🎉 Hi #ESHG2025, the Statistical Genetics Group and alumni (@zkutalik.bsky.social) is coming in force! 
Check out our latest work on human genetics!
 📍Come see our talks & posters, or reach out to meet us!

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Reposted by Robin Hofmeister

Zoltán Kutalik @zkutalik.bsky.social · Apr 29

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...

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Andrea Ganna @andganna.bsky.social · Apr 18

🚨 New paper 🚨

Do known genetic factors for obesity and type 2 diabetes affect weight loss from GLP1-RA (Ozempic) or bariatric surgery?

🔍 10,960 people, 9 biobanks, 6 countries
🧬 Minimal genetic impact on GLP1-RA response
📉 Modest effect after surgery

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

Association between plausible genetic factors and weight loss from GLP1-RA and bariatric surgery - Nature Medicine

The authors found, after analyzing 10,960 individuals from 9 multiancestry biobanks across 6 countries, that genetic factors previously associated with BMI have limited impact on GLP-1 receptor agonis...

www.nature.com

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Giovanni Ciriello @ciriellolab.bsky.social · Mar 18

After 6 (healthy) months of hiatus from social media, first post with a brand new conference announcement!! 🔥COMPUTATIONAL BIOLOGY IS EVERYWHERE! Join us in Lausanne for the first international Computational Biology Symposium! 18-19 September 2025 Registrations are OPEN! cbiosymposium.unil.ch

Computational Biology Symposium

cbiosymposium.unil.ch

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Andrea Ganna @andganna.bsky.social · Feb 21

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

LPSHG – Leena Peltonen Shool Of Human Genomics

lpshg.com

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Reposted by Robin Hofmeister

Andrew Heiss @andrew.heiss.phd · Feb 20

Here are some cool animations I made a couple years ago for teaching DAG-based causal inference

Confounding!

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