Isaac García

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 using GWAS summary statistics and show ~11% of the LD blocks in human genome exhibit pleiotropic conflict. Bian et al. medRxiv medrxiv.org/content/10.110…

Excited to share our latest research, now published in @Nature 🎉 Huge thanks to my amazing supervisor @hilsomartin and co-first @EmilieWigdor for their incredible support!

📣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…

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⭐️

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

Looking at all the polls being thought to be herded today, I'm reminded of the great @jcbarret 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

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

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

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!

The genetic architecture of protein stability by @aj4re @ainamartiaranda @cristonah @ToniBeltran13 @JoernSchmiedel nature.com/articles/s4158… @CRGenomica @sangerinstitute @ALLOXbio

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)

Great collaboration between the @FoldingGenome 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…

Excited to share our new work on the common and rare variant genetic architecture of cognitive ability across childhood and adolescence, using data from @CO90s, @CLScohorts, and @uk_biobank. medrxiv.org/content/10.110…

🚨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 @CHILDSTUDY - published today in @NatureComms. 🧬🤱🏻🫁 #Tweetorial 🧵 nature.com/articles/s4146…

Meet the artist! This is Mauricio Guzman, @mauguz33, 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…

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…

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

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…