Great collaboration between the Hughes Group and Watkins labs, reporting the first Gain of Function de novo enhancer causing Mendelian disease (ST Depression Syndrome), defining a multidisciplinary path with ML to solving non-coding clinical genetics. medrxiv.org/content/10.110…

Without controlling for geographic region, associations between genes and *most* heritable traits will include effects of environmental differences between high-income and low-income regions 🧬🗺️💵 One-page summary below, full paper here (open access): nature.com/articles/s4158…

Excited to share our paper, on efficient variance-component estimation in ARGs, following-up on method developement by Ali Pazoki and Sriram Sankararaman and my PhD work. We introduce ARG-RHE to estimate narrow-sense h2 and perform region-based association testing using an ARG.

Very helpful! But consider colorblind-friendly color palettes 🎨 ggpubfigs only supports colorblind-friendly color palettes, so it is something users don't even need to think about :D github.com/JLSteenwyk/ggp… x.com/tangming2005/s…

Meet the artist! This is Mauricio Guzman, Mauricio Guzman, creator of our nature cover of the Mexican Biobank paper. I wanted to convey a message of rich genetic diversity across Mexico & beyond through artwork and he did a brilliant job! Highly recommend him! x.com/morestrada/sta…

🚨New Paper Alert! Over 8 years in the making (including 2 in peer review 😬) - I could not be happier to share our genome-wide association study of #HumanMilk Oligosaccharides in the CHILD Cohort Study - published today in Nature Communications. 🧬🤱🏻🫁 #Tweetorial 🧵 nature.com/articles/s4146…

Excited to share our new work on the common and rare variant genetic architecture of cognitive ability across childhood and adolescence, using data from Children of the 90s, UCL Centre for Longitudinal Studies, and UK Biobank. medrxiv.org/content/10.110…

I am really happy to see the #preprint of our work studying #acral #melanoma tumours from 🇲🇽 Mexican patients out today! This has been a ~8 year-long work involving many colleagues from Mexico and abroad. Some of our findings here below.... ⬇️ (1/12)

The genetic architecture of protein stability by Andre Faure @ajfaure.bsky.social Aina Martí cristina hidalgo-carcedo @ToniBeltran13 Joern Schmiedel nature.com/articles/s4158… Centre for Genomic Regulation (CRG) Wellcome Sanger Institute ALLOX

My old account has disappeared, and I'm not sure why. I’m hoping to recover it somehow or link it to my new one! Thank you to everyone for reconnecting!

To all my fellow academics! Please re-tweet and follow my supervisor Raheleh Rahbari . She and Matthew Neville will soon be dropping one of the most groundbreaking research pieces on germline mutation of the last decade 🤯🚀 Stay tunned!

You were warned, check out the latest pre-print from Matthew Neville and Raheleh Rahbari. Check out for some super cool insights on the potential consequences of the male germline ageing!

Looking at all the polls being thought to be herded today, I'm reminded of the great Jeffrey Barrett once raising the issue of mutation rate estimates also being subject to herding (everyone gets a similar number for it by changing their filtering as they don't want to be too far off)

To those at #ASHG24, check out these presentations from our lab: @KlaudiaMWalter will be talking about rare variant associations and founder effects in British South Asians from @GenesHealth at 1.45pm on Friday (Session 81). 1/2

Delighted to share the new publication from Carl Anderson team at Nature Communications, led by the brilliant Dr Elizabeth Goode The study characterises Primary sclerosing cholangitis (PSC) GWAS loci nature.com/articles/s4146…

Are you attending #ASHG24 & are you interested either in #IBD or how to nominate effector genes for other complex traits? Then come and visit our International IBD Genetics Consortium GWAS poster today between 2:30-4:30. I’ll be delighted have a chat with you Board 5115⭐️

📣Big news! Our tag-team effort on common variants in rare neurodevelopmental conditions is now out in nature! 📣 Co-first authoring with the brilliant Qinqin Huang🌟—proof that teamwork does make the dream work. 💪 nature.com/articles/s4158…

Excited to share our latest research, now published in nature 🎉 Huge thanks to my amazing supervisor Hilary Martin and co-first Emilie Wigdor for their incredible support!

The human genome is littered with pleiotropic variants with conflicting effects on disease traits, for e.g., increase the risk of one disease but protect against another, or is detrimental early in life but beneficial later. A fascinating new preprint systematically studied this