New preprint. We show that a wide class of outcome transformations and endogenous treatment effects induce sign-consistent gene-environment interaction (GxE) effects. biorxiv.org/content/10.110… 1/4

Thousands of genetic loci that increase the risk for psychiatric disease have been found, but no one knows whether disease arises from a random selection of risk alleles. Na Cai shows that risk alleles occur in sets, opening the way to finding disease subtypes

Monotone convex transformations of an additive phenotype induce sign-consistent GxE--new preprint from Michal Sadowski, Noah Zaitlen and Richard Border

I wrote about how genetic risk works in the context of embryo selection and how people often think about it all wrong. A short 🧵:

🌎👩‍🔬 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/10.1101/2024.0…

Our preprint on the challenges of benchmarking Structural Variants (SVs) is out in BioRxiv biorxiv.org/content/10.110…

Latest genomic AI models report near-perfect prediction of pathogenic variants (e.g. AUROC>0.97 for Evo2). We ran extensive independent evals and found these figures are true, but very misleading. A breakdown of our new preprint: 🧵

Description of the KOMOGEN study, recruiting 10,000 women with recurrent depression in S. Korea, is now out: doi.org/10.1002/ajmg.b…