Isaac García
@IsaacGS322PhD student @sangerInstitute 🔬💻🇲🇽🌮🐈. Views are my own.
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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!
My group's work dissecting the contribution of common variants to rare neurodevelopmental conditions is now out at nature.com/articles/s4158…. See this thread from co-first authors @qinqin_huang and @EmilieWigdor with a summary of the key findings.
📣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!
Excited to share our new preprint in which we address: (1) Accurate sequencing of sperm at scale (2) Positive selection of spermatogenesis driver mutations across the exome (3) Offspring disease risks from male reproductive aging [1/15] medrxiv.org/content/10.110…
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!
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)
Ancestry and somatic profile predict acral melanoma origin and prognosis medrxiv.org/cgi/content/sh… #medRxiv
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…
First time I get the cover of a magazine and it's in @Nature! Had this idea to illustrate the diversity captured by the MX Biobank across Mexico and brilliant designer @mauguz33 brought it to life inspired by indigenous Huichol art from near my home town. nature.com/nature/volumes…
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…
Color Palettes for Data Visualization rpubs.com/mathetal/colors #rstats
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.
Fast variance component analysis using large-scale ancestral recombination graphs biorxiv.org/cgi/content/sh… #biorxiv_genetic
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…
My first first-author paper is out! We reviewed the molecular basis of lactase persistence and proposed new links between known genetic and epigenetic mechanisms. 1/2 @uclbiosciences onlinelibrary.wiley.com/doi/10.1111/ah…
On bioRxiv today, we raise serious concerns over a recent @nature paper describing ReDeeM, a new single-cell mitochondrial DNA (mtDNA) sequencing / analysis method. Here are three things that you need to know: 1/n biorxiv.org/content/10.110…
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