Latest from our lab! A proteome-wide association study of cardiovascular diseases in 640,000 participants of multiple ancestries www.medrxiv.org/content/10.6... A truly global collaboration of computational and experimental researchers. h\t @yuxu.bsky.social, Doug Loesch, Henry Taylor among many!

Not being able to access the @ukbiobank.ac.uk is becoming a significant issue for a PhD student in our group and I can only imagine this is mirrored in many other places. It would be fantastic to at least have a timeline we could work with.

Just sharing our most recent preprint. Would welcome feedback. Sex differences in the genetic basis of human recombination within 190,000 parent-child pairs. www.biorxiv.org/content/10.6...

🧬New in today's issue! 📄Mendelian randomization linking metabolites with enzymes reveals pathway regulation and therapeutic avenues 🧑‍🤝‍🧑 @zkutalik.bsky.social & co

Mendelian randomization linking metabolites with enzymes reveals pathway regulation and therapeutic avenues

Mendelian randomization (MR) is widely used to identify causality between human traits; however, it suffers from high error rates. Van der Graaf et al. benchmark MR using human metabolic networks to u...

cell.com

🧬 New preprint alert! After years of collaborative work across 52 datasets we are presenting eQTLGen phase 2: a genome-wide eQTL meta-analysis covering 43,301 blood samples: www.medrxiv.org/content/10.6... (1/8)

My second dissertation paper is now out in @natcomms.nature.com! Here we introduce the co-expression-wide association study (COWAS) method for identifying pairs of genes or proteins whose genetically regulated co-expression is associated with complex traits. 🧵⬇️ www.nature.com/articles/s41...

Co-expression-wide association studies link genetically regulated interactions with complex traits - Nature Communications

Proteins can affect traits through their interactions with one another. Here, the authors propose the COWAS method to identify pairs of interacting genes or proteins whose genetically regulated co-exp...

nature.com

I'm excited to present this new model to detect positive selection on regulatory sequences, which has been 3 years in the making! Thanks to Alexandre Laverré and @phylogenetrips.bsky.social for their amazing work on this project. 😃 doi.org/10.1101/2025... Thread!

RegEvol: detection of directional selection in regulatory sequences through phenotypic predictions and phenotype-to-fitness functions

Regulatory DNA controls when and where genes are expressed, making it a key driver of phenotypic evolution. Yet detecting selection in non-coding regions remains difficult, as most approaches rely on ...

doi.org

Interested in whole genomes, AI and functional validation? Sign up to hear more about our summer school in the sunny southwest U.K. @exeter.ac.uk in Sept 2026, in partnership with the U.K. Functional Genomics Initiative @uk-fgx.bsky.social and Google Deepmind @nihrexeterbrc.bsky.social

It has been disappointing to see the general lack of interest and investment into population genetics and genomic medicine in Switzerland. While we can resort to other national cohorts for research the country can only benefit if the know-how can be applied locally www.sfa-phrt.ch/success-stor...

Didier Trono Interview “Switzerlands Genetic Diversity is Unique” - PHRT – Personalized Health & Related Technologies

Success Story Didier Trono While other countries are pressing ahead with the Genome of Europe, Switzerland is still hesitating. A huge mistake, says Didier Trono from the Genome Center in Geneva “I do...

sfa-phrt.ch

The 2025 state of the climate report: a planet on the brink doi.org/10.1093/bios...

SIB is organizing the next edition of #eccb2026 (Geneva, 31.08.2026 - 04.09.2026), and we are now inviting the community to submit their tutorial and workshop proposals. 👉 A great opportunity to share tools, methods and expertise with 1,000+ international participants. Deadline: 5 January 2026.

European Conference on Computational Biology@eccb-europe.bsky.social · 9mo ago

📣 The call for tutorials & workshops at #ECCB2026 is now open! Share your tools, methods or expertise with the community. 🗓️ Deadline: 5 January 2026 👉 Submit: tinyurl.com/tw-eccb26 💡 ECCB will take place on 31 Aug–4 Sept in Geneva, gathering 1,000+ scientists from academia, industry, & healthcare.

🧵1/ Excited to share our new paper introducing a new #singlecell assay: scTF-seq, a high-throughput single-cell approach to explore how transcription factor (TF) dose shapes cell identity and reprogramming outcomes. 🔗 www.nature.com/articles/s41... Big congrats to the entire team @EPFL & @SIAT_China

Dissecting the impact of transcription factor dose on cell reprogramming heterogeneity using scTF-seq - Nature Genetics

This study introduces single-cell transcription factor (TF) sequencing, a single-cell barcoded and doxycycline-inducible TF overexpression approach that reveals dose-sensitive functional classes of TFs and cellular heterogeneity by mapping TF dose-dependent transcriptomic changes during the reprogramming of mouse embryonic multipotent stromal cells.

nature.com

🚨 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...

Wow! If this holds up, it will be a triumph of science (i.e., of many hundreds of dedicated scientists over decades) over a devastating disease.

Excited to share our latest manuscript, "Exposure accumulation drives age-dependent disease architectures and polygenic risk scores," led by Xilin Jiang: www.medrxiv.org/content/10.1... I am attempting an explainer thread for the first time here: (I am usually too exhausted to post one)

Exposure accumulation drives age-dependent disease architectures and polygenic risk scores

Our understanding of the dependence of the genetic and environmental architecture of common diseases on age is incomplete. Here, we use longitudinal data to quantify age-dependent genetic and environm...

medrxiv.org

I wrote about gene-gene interactions (epistasis) and the implications for heritability, trait definitions, natural selection, and therapeutic interventions. Biology is clearly full of causal interactions, so why don't we see them in the data? A 🧵:

Beneath the surface of the sum

When genetic interactions matter and when they don't

open.substack.com

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 · last yr.

🚨 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!

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 · last yr.

🚨 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!

🚨 News recherche Des caractéristiques telles que la taille, le métabolisme ou encore le risque de développer certaines #maladies peuvent être influencées de manière différente selon que le variant #génétique en cause provient de la mère ou du père. ➡ www.unil.ch/news/1754464...

L’impact de certains gènes dépend du parent dont ils sont hérités

Des caractéristiques telles que la taille, le métabolisme et le risque de maladies peuvent être influencées différemment – et même dans des sens opposés – selon que le variant génétique en cause est h...

unil.ch

SIB Swiss Institute of Bioinformatics@sib.swiss · last yr.

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...

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.

nature.com

🚨 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!

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 !

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...

sib.swiss

🚨New preprint is out! How do genetic effects on complex traits change with age? In this work, we compare different approaches to obtain age-varying genetic effects, and show how design and modeling choices can impact the conclusions we draw. shorturl.at/17snd A thread 🧵👇

Design and model choices shape inference of age-varying genetic effects on complex traits

Understanding how genetic influences on complex traits change with age is a fundamental question in genetic epidemiology. Both cross-sectional (between-subject) and longitudinal (within-subject) appro...

shorturl.at

This represents a real tour-de-force by @adriaan-vd-graaf.bsky.social. It has so many strong aspects: (i) establishment of large scale ground truth data for causal inference [metabolomics/transcriptomics]; (ii) sophisticated method and (iii) biological insights through real data application.

Adriaan@adriaan-vd-graaf.bsky.social · last yr.

Our paper, MR-link-2 has just been published! Offering pleiotropy robust Mendelian randomization from a single region! www.nature.com/articles/s41...

Our paper, MR-link-2 has just been published! Offering pleiotropy robust Mendelian randomization from a single region! www.nature.com/articles/s41...

Lausanne Comp Bio Symposium 2025 (cbiosymposium.unil.ch) 🗓 Abstract deadline 30 June (𝟑 𝐝𝐚𝐲𝐬 𝐭𝐨 𝐠𝐨!!!) 🎤 Oral presentation notifications: 7 July ✅ Early Bird registration deadline: 11 July 💰 Registration fee for non-PI: 150 CHF

🔥 18-19/9/25 🔥 Computational Biology Symposium in Lausanne! Meet the speakers: Mo Lotfollahi @sangerinstitute.bsky.social is expert of cutting-edge #AI approaches to study #singlecell biology , #generativeAI, and #spatialbiology lotfollahi.com

You can still apply to this postdoc job opportunity!

Marc Robinson-Rechavi@marcrr.bsky.social · last yr.

Postdoc job opportunity! We're looking for ECR in evolutionary genomics to study the relation between intra-specific gene expression variability, polymorphism, and macro-evolutionary rates. We have the data in 3 fishes & amphioxus, just waiting for your expertise and enthusiasm! tinyurl.com/3aewk286

Come join 5Prime as we grow our team to use human genetics and other —omics to accelerate drug development. New post for a Software Engineer: 5primesciences.com/careers/