@ajhgnews.bsky.social sat with @adriaan-vd-graaf.bsky.social in the latest "Inside AJHG" to discuss his recently published paper, “Mendelian randomization linking metabolites with enzymes reveals pathway regulation and therapeutic avenues.”➡️ bit.ly/46di69J #ASHG #HumanGenetics

🧬 New preprint alert! After years of collaborative work across 52 datasets we are presenting eQTLGen phase 2: a genome-wide eQTL meta-analysis covering 43,301 blood samples: www.medrxiv.org/content/10.6... (1/8)

Mendelian Randomization is powerful but often debated. We benchmarked it against the "ground truth" of human metabolic pathways to see how often it gets it right. 🧬 Result: MR is robust! It matches known metabolism in 43% of cases and identifies valid drug targets. www.cell.com/ajhg/fulltex...

EMGM 2026 will be in beautiful Davos this year! emgm2026.sciencesconf.org?lang=en Registration abstract submission and travel grant applications are open! Hope to see you there!

Hi #ASHG2025, the Lausanne team made it to Boston ! Excited to present our latest discoveries — come say hi and learn more about our research! @samuelmoix.bsky.social @rjhfmstr.bsky.social

Tip for presentations: avoid saying "I don't think this audience needs an introduction to X". Try instead giving a v brief introduction tailored to the key points you will reference in the rest of the talk. So often people assume I have knowledge I don't, and this hurts my ability to follow.

Using google gemini with grounding for later reference? Make sure you download your links before they expire... :(

🚨 Our parent-of-origin study is out in Nature! 🧬 Maternal and paternal alleles can have distinct — even opposite — effects on human traits, revealing a hidden layer of genetic architecture that standard GWAS miss. 🔗 www.nature.com/articles/s41... Highlights below!

Wild ride.

1 To predict the behaviour of a primate, would you rather base your guess on a closely related species or one with a similar brain shape? We looked at brains & behaviours of 70 species, you’ll be surprised! 🧵Thread on our new preprint with @r3rt0.bsky.social , doi.org/10.1101/2025...

Super excited to see this out. What started as some math in a grant in 2020, to a student deciding to take this on in 2022, to published in 2025. These things can take time and patience is key!

I wrote a little bit about a cool recent paper looking at heritability estimates from very large registry data, and how we still really don't understand why outcomes track in families. A short 🧵:

🚨New preprint is out! How do genetic effects on complex traits change with age? In this work, we compare different approaches to obtain age-varying genetic effects, and show how design and modeling choices can impact the conclusions we draw. shorturl.at/17snd A thread 🧵👇

Our paper, MR-link-2 has just been published! Offering pleiotropy robust Mendelian randomization from a single region! www.nature.com/articles/s41...

Happy to share our new study on genetic & environmental contributors to age-related decline in ~100K UK Biobank participants! Here, we used simulation work + longitudinal GWAS and downstream analyses to explore risks involved in cognitive/physical decline (1/)🧵🧵 shorturl.at/99gqL

Deaths from heart disease down 75%, that’s NIH. Deaths from stroke down 75%, that’s NIH. HIV/AIDS no longer a death sentence, that’s NIH. 99% of FDA approved drugs in the last decade, that’s NIH. Please show this video to anyone who doesn’t understand why the NIH is so important.

We've just posted an updated version of our metabolic trait GWAS preprint. The GWAS summary statistics are still the same as in October, but we've included several new follow-up analyses and completely rewritten the manuscript! See thread below for some highlights. www.medrxiv.org/content/10.1...

EMGM2025 abstract deadline extended – 09/02 (final). Conference 8-9 April, Brest, France. Everything statistical and population genetics, genetic epidemiology, bioinformatics… Invited speakers: Céline Bon, Beatriz Cuyabano, Garrett Hellenthal. emgm2025.sciencesconf.org

🚨 Our preprint on parent-of-origin effects (POEs) is out! With our novel method, we inferred the parental origin of alleles for >220,000 individuals, uncovering novel insights into genetics, evolution, and health. 👉 Read here: www.medrxiv.org/content/10.1... 👇 Highlights below!

So many awesome tools for complex trait genetics! 🧬 Great idea @michelnivard.bsky.social to create a repository listing them. I am learning about new ones every day at the moment, as people add to the repo Add yours! 🤩 github.com/MichelNivard...

Visit the table of all #GWAS with #Metabolomics to read more about the latest #mQTL discoveries (updated 23 April 2024) wp.me/p6NCOp-2y

Hey, a question for the genetics community. Does genetic fine-mapping work well? How often does it miss? We usually find that most fine-mapped variants do not fall within coding or regulatory regions. Is it a limitation of epigenomics or a limitation of fine-mapping? Please share your thoughts!

🚨NEW PREPRINT! Interested in Mendelian randomization and proteomics? 🧬 We created a comprehensive multi-ancestry proteome-phenome-wide atlas of protein-disease associations in European, African, and East Asian ancestries! Preprint: www.medrxiv.org/content/10.1... Website: broad.io/protein_mr_a...

Wanna do pleiotropy robust MR in a single region? Introducing MR-link-2: github.com/adriaan-vd-g... Paper will be out soon, meanwhile some highlights: 1: MR-link-2 has superior AUC compared to MR and coloc methods 2: FPRs from 0.15 to 0.09 3: MR-link 2 results meaningfully deviate from other MR

In my work, I've been thinking about the genetic architecture of (all) human traits. Thinking of the following: Is there a way to prove that only one or two genetic variants are causal to a trait? So it's not 1000 or more snps in a region?