🧠Grant from #HortenHealthFoundation powers #AI-based research in computational genetics led by Na Cai @caina89.bsky.social @ethz.ch to uncover molecular subtypes of major depressive disorder 👉🏾 tinyurl.com/2wyrjxcs

🌟 Rising Stars Seminar 🧬 Learning Lifetime Disease Liability Reveals and Removes Genetic Confounding in Electronic Health Records 🎤 Na Cai, DPhil 📅 May 12 | 9–10am ET @sinaigenetics.bsky.social @caina89.bsky.social #Genomics #GWAS #AI

📢 Call for submissions: The RECOMB-Genetics satellite workshop will take place in Thessaloniki, Greece 🇬🇷 on May 25, 2026, just before the RECOMB conference (May 26–29) @recombconf.bsky.social 📅 Submission deadline: April 2 (AoE) 👉 recomb.org/recomb2026/r... Submit your work and join us!

Our new preprint “Learning lifetime disease liability reveals and removes genetic confounding in electronic health records” is now online! Link to paper: This work is led by my postdoc Yazheng Di and it’s our first project at @bsse.ethz.ch :) medrxiv.org/cgi/content/... Thread 1/n

Learning lifetime disease liability reveals and removes genetic confounding in electronic health records

Electronic health records (EHRs) have become the cornerstone of population-scale genetic studies1, but factors including patterns of healthcare use shape which and how diagnoses are recorded, leading ...

medrxiv.org

My department @bsse.ethz.ch is inviting applications for a new assistant professor (tenure-track) in computational immunology, interested candidates please see advert and apply! Deadline 15 April 2026 ethz.ch/en/the-eth-z...

Assistant Professor (Tenure Track) of Computational Immunology

ethz.ch

New preprint alert: we use sign errors as a test of how well TWAS works. Very worryingly we find that TWAS gets the sign wrong around 1/3 of the time (compared to 50% for pure guessing). You can read more about our analysis here, and what we think is going on 👇

Nikhil Milind@nikhilmilind.dev · 7mo ago

How well does TWAS estimate a gene’s direction of effect on a trait? We think of this as an important stress-test for the accuracy of TWAS. In a new pre-print, we find that TWAS gets the sign wrong around 20-30% of the time! doi.org/10.64898/202... 1/n

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

The PGC Suicide Working Group will provide a symposium at #WCPG2025 🇲🇽 covering our latest multi-ancestry GWAS and CNV meta-analyses, sex-specific meta-analyses, and GxEHR analyses. 🥳 @lcstoshio.bsky.social @andreyshabalin.bsky.social @sarahcolbert.bsky.social @caina89.bsky.social

We are excited to share GPN-Star, a cost-effective, biologically grounded genomic language modeling framework that achieves state-of-the-art performance across a wide range of variant effect prediction tasks relevant to human genetics. www.biorxiv.org/content/10.1... (1/n)

🌎👩‍🔬 For 15+ years biology has accumulated petabytes (million gigabytes) of🧬DNA sequencing data🧬 from the far reaches of our planet.🦠🍄🌵 Logan now democratizes efficient access to the world’s most comprehensive genetics dataset. Free and open. doi.org/10.1101/2024...

The Sudmant lab at UC Berkeley is seeking a postdoc to work on a fully funded NIH project to understand differences in DNA repair and somatic mutation across the primate tree of life. Please spread widely to those who may be interested aprecruit.berkeley.edu/JPF05052

Postdoctoral Scholar – Genomics, Aging, Somatic Mutation, Structural Variation, Evolution , Cancer – Integrative Biology

University of California, Berkeley is hiring. Apply now!

aprecruit.berkeley.edu

The 2026 Probabilistic Modeling in Genomics (ProbGen) meeting will be held at UC Berkeley, March 25-28, 2026. We have an amazing list of keynote speakers and session chairs: probgen2026.github.io Please help spread the news.

‘Genetic Risk Effects on Psychiatric Disorders Act in Sets’, the title of our new preprint on @medrxivpreprint.bsky.social! This huge collaborative effort advances our understanding of psychiatric genetic architecture and emphasizes the importance of looking beyond additive effects. 🧵1/n; 🧪👩🏽‍🔬🧬

Very happy to share our new paper now on @medrxivpreprint: “Genetic risk effects on psychiatric disorders act in sets”, a great effort led my PhD student @jolienrietkerk.bsky.social, and performed together with collaborators Andy Dahl, Jonathan Flint, Andrew Schork etc. Thread 1/n

Today, our two new faculty members held their inaugural lectures @ethzurich.bsky.social. Basile Wicky | Biomedical Design Lab, presented on designing proteins that interface with life; Michael Moor @michaelmoor.bsky.social | Medical AI Lab, spoke about AI in medicine. Recordings > u.ethz.ch/hQdQl

I just had the most wonderful time at the Quantgen GRC in Italy with these lovely and brilliant people :) hope to see everyone again in Ventura for the next Quantgen GRC in 2 years time, and sooner on other occasions!

New year new start! My group has moved to the Dept of Biosystems Science and Engineering in ETH Zurich - very excited to work with new colleagues here! We’re also hiring soon, if interested in a PhD/postdoc in quantitative genetics and genomics, esp with focus in psych disorders, pls get in touch!

How population stratification makes environments look like genes. A short 🧵:

Unsure how recent changes in U.S. policy regarding the NIH will impact the psychiatric genetics world? You're not alone. Join ISPG for a Member’s Meetup for community discussion and support: 📅 Wednesday, January 29 🕗 3 PM EST 📍 Pre-Register: us06web.zoom.us/meeting/regi...

📢 Quantgen friends: We will continue to accept applications for the GRC on Quantgen in Feb 2025 till 26 Jan or when we are full, so there is still time to put in an application and join us! 😁 Check out our latest program and apply now! www.grc.org/quantitative...

🚨 RECOMB-Genetics Deadline 🚨 The RECOMB-Genetics 2025 workshop is in Seoul 🌏 on April 25, 2025, just before the main RECOMB conference (April 26–29). 📅 Submission deadline: Feb 14, 2025 (AoE) 👉recomb.org/recomb2025/rec… Submit your work and join us for this exciting event!

I wrote about the ongoing debates over genomic data sharing and the use of such data for "abhorrent science", including some perspective papers that came out last month. A few key points: 🧵

On abhorrent science and the weaponization of genomic data

How to balance open data sharing and public responsibility

open.substack.com

Quantgen GRC (16-21 Feb 2025) in Lucca, Italy: we are still accepting applications and poster abstracts! Deadline: 19 Jan 2025 Apply now - we have a great selection of invited speakers and the posters abstracts are amazing. It’s going to be a blast 💥 www.grc.org/quantitative...

How to do differential expression with scRNAseq data? State of the art is "pseudo-bulk" analysis with RNA-seq methods like edgeR or DESeq2, where "cell type" is encoded as discrete categories. Biologically, discrete categories are not always the most appropriate concept.(1/3) doi.org/10.1038/s415...

Analysis of multi-condition single-cell data with latent embedding multivariate regression - Nature Genetics

Latent embedding multivariate regression models multi-condition single-cell RNA-seq using a continuous latent space, enabling data integration, per-cell gene expression prediction and clustering-free ...

doi.org

Come join us as a group leader: www.jobs.cam.ac.uk/job/49356/ Happy to answer queries.

Department of Genetics, University of Cambridge@geneticscam.bsky.social · 2y ago

The Department is opening its doors to sponsor Early Career Researchers for external fellowships 👨‍🔬👩‍🔬 We will assist you with the development of your fellowship application and practice for interviews. Please share and get in touch! 📨💻 ➡️more info: jobs.cam.ac.uk/job/49356/

Great to see this out. From @caina89.bsky.social and @pgcgenetics.bsky.social Cross-disorder group rdcu.be/d4ZF0

Last work tweet of 2024 (maybe 😉): I, Ken Kendler, Brad Verhulst, @jorsmo.bsky.social and @andrewgrotzinger.bsky.social et al in the Psychiatric Genomics Consortium Cross Disorder Group (PGC-CDG) wrote a review on challenges studying cross disorder (psych) genetics: www.nature.com/articles/s41...

Very happy to share *two* new projects from my group now on @biorxivpreprint.bsky.social on mtDNA variation effects on tissue-specific gene expression conducted using RNAseq data in 49 tissues in the GTEx project! 🧵 1/n

After 4 fantastic years of research, together with @caina89.bsky.social & Matthias Heinig, I’m thrilled to share the first tissue specific map of apparent mtDNA heteroplasmy in humans and their relationships with donor age and mtDNA gene expr across 49 tissues! www.biorxiv.org/content/10.1...

My first PhD student Lianyun Huang has now successfully defended her PhD and is now Dr Huang! 🎉🎉🎉 Thank you for 4 years of hard work, it’s an honor to be part of your academic journey!