What a ride so far… 🎂

A project many years in the process, we’re pleased to present our work on multi-ancestry meta-analysis across a boatload of traits in the UK Biobank: www.nature.com/articles/s41...

If you care about regulatory variants don’t miss the E2G extension of the @opentargets.org Platform. There are synergies that only a fully open science allows and this is a good one!

🚨New preprint just dropped 🚨 medrxiv.org/content/10.1101/2025.06.24.25330216 The main output from my PhD is finally public and we’re SUPER excited about the findings! If you’re interested in what we learnt about IBD with a massive 700+ sample sc-eQTL dataset of the gut, read on!

🚀 The Summer ☀️ @opentargets.org Platform release is here! If you thought the last update was big… just wait till you see what’s inside. A quick thread on the highlights 👇

Our new contribution to the quest to find causal GWAS genes! Sam Ghatan from my lab at @nygenome.org led a systematic comparison of eQTLs and CRISPRi+scRNA-seq screens. TL;DR: they provide highly complementary insights, with ortogonal pros and cons. 🧵👇 www.biorxiv.org/content/10.1...

The most famous heuristic in mapping gwas snps to genes is "it's usually the closest gene". But only slightly less well-known is this: consider the colocalized phenotypes. That is, a genetic variant seldom disrupts exactly one phenotype. What else does tugging on that thread do?

Big thanks to the community for the great feedback we are receiving on the spring @opentargets.org Platform release. There are many positive and new ideas for improving our scientific interpretation and products. Feedback is a critical aspect of an open project's lifecycle. Please keep it coming 🧬🖥️

🚀 Big news! We've just published the official guidelines for submitting affinity proteomics data to PRIDE @pride-ebi.bsky.social (supported technologies Olink & SomaScan)! Get ahead of the curve—check them out & start your submissions! 👇 🔗 github.com/PRIDE-Archiv... #Proteomics #Olink #SomaScan

The @opentargets.org Platform Spring 🌼 release brings a step-change in how we address common disease genetics. We included the results of a large-scale analysis on GWAS and functional genomics studies to inform target selection further 🧬 👩‍💻 blog.opentargets.org/a-step-chang...

From next spring, the Open Targets Platform will incorporate the best of Open Targets Genetics into an integrated drug discovery platform 🧵

What do GWAS and rare variant burden tests discover, and why? Do these studies find the most IMPORTANT genes? If not, how DO they rank genes? Here we present a surprising result: these studies actually test for SPECIFICITY! A 🧵on what this means... (🧪🧬) www.biorxiv.org/content/10.1...

Specificity, length, and luck: How genes are prioritized by rare and common variant association studies https://www.biorxiv.org/content/10.1101/2024.12.12.628073v1

Out now! A look back at all the changes to the Open Targets Platform in the past two years 🖥️🧬 We've focused on adding data and analyses to help build therapeutic hypotheses, from expanding our associations page...

In the upcoming NAR issue, we summarise the last 2 years of updates in the @opentargets.org Platform. One step at a time... academic.oup.com/nar/advance-...

Instarted making a list the other day, with the help of others adding their own faves: github.com/MichelNivard...

crispy morning in the genome campus…

plain and simple 👌

Moving day at @opentargets.org It always amazed me the UK ability to appreciate remarkable scientists. The new @ebi.embl.org building couldn’t be named after a more inspirational figure

My group's work dissecting the contribution of common variants to rare neurodevelopmental conditions is now out at nature.com/articles/s41..., led by co-first authors Qinqin Huang (not yet on blue sky) and @emiliewigdor.bsky.social . See below for Emilie's tweetorial.

Resharing here a recent X post. In this preprint, we introduce an improved version of NanoSeq, a duplex sequencing protocol with <5 errors per billion bp in single DNA molecules, and use it to study the somatic mutation landscape of oral epithelium in >1000 people. 1/ www.medrxiv.org/content/10.1...

To complete the healing it would be good to start thinking who are we missing here 🦋

Models for predicting the effect of genetic variation have come a long way in the last few years. When it comes to diagnosis and preventative care, how can we make safe and yet efficient use of them? Here are some of our thoughts authors.elsevier.com/c/1k7J9_4GsX...

Finally, a newly minted program in Therapeutic Genomics: www.paediatrics.ox.ac.uk/Study/therap... Combining expertise across Oxford with global collaborators to harness genomic approaches and technologies to accelerate the development of effective and safe genome-targeted therapies. End 🧵

Regenxbio $RGNX says gene therapy strengthened boys with Duchenne muscular dystrophy Pivotal study started, top-line data could come early 2026. FDA accelerated approval filing to follow. www.statnews.com/2024/11/18/d... $SRPT

First day on bsky. A fresh start. A chance to do better, to be kind, to listen other voices. 👋 Hello everyone