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dgmacarthur.bsky.social
Genomics, big data, open science, diversity. Director of the Centre for Population Genomics, focused on building a more equitable future for genomic medicine. Opinions my own.
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We finally have some well-powered whole-genome heritability estimates, including a quasi-behavioral trait (BMI). For height, ~89% of the heritability estimated to reside in common variants. For BMI and WHR, ~100% estimated in common variants. www.biorxiv.org/content/10.1...

Never in my most pessimistic moments did I expect the response to modern biotechnology saving countless lives in a pandemic to be a powerful elite captured by a conspiracy theory and dismantling our defenses against the next one out of some misguided notion of revenge

I wrote up an FAQ about the recent federal grant cuts. A few points: 🧵

Things pediatricians are scared of: Grapes Hot dogs Lawn mowers Unmounted TVs Babies on laps in cars Riders without helmets Ungated pools Crib bumpers Trampolines Hot tubs Guns Things pediatricians are not scared of: Any/all the vaccines

Very nice study and very readable write-up on the genetic architecture of the population of Greenland "This work demonstrates that including indigenous populations in genetic research can help alleviate the inequalities in genomic healthcare."

Is there a German word for being simultaneously horrified by clumsy, misguided, and deeply destructive attacks on a critical system, and by the many grossly dysfunctional and inefficient aspects of the system being attacked? Because we really need one right now.

Excited to share a new paper from @insitro.bsky.social (first author @zmccaw.bsky.social ) in @hggadvances.bsky.social vances.bsky.social on scrutinizing the practice of using a ratio trait (numerator / denominator) for GWAS. www.cell.com/hgg-advances...

for pity’s sake, I am BEGGING university leaders to stop framing this issue in terms of what this will cost the university. people dont care! EXPLAIN WHAT THIS WILL COST THE PUBLIC: closed hospitals and clinics, skipped treatments, loss of access to experimental drugs, unemployment, recession

It’s been a tough few weeks. My 10yo daughter was diagnosed with a very rare, aggressive cancer called interdigitating dendritic cell sarcoma (IDCS). I’m reaching out to identify clinicians/patients who have encountered pediatric IDCS or other (non-LCH) dendritic or histiocytic sarcomas cases.

Hey man sorry to hear about all your political turmoil. Would it help if I scrolled around on the computer all day and drove myself insane?

While university presidents are huddling w/ teams of communications consultants and lawyers, carefully crafting statements to respond to the attack on science, the Trump administration is making massive, rapid-fire moves. An asymmetrical battlefield, where consequences only flow one way.

1. Today the NIH director issued a new directive slashing overhead rates to 15%. I want to provide some context on what that means and why it matters. grants.nih.gov/grants/guide...

🚨Job Alert @arcadiascience.com! Are you an independent, generative, rigorous scientist that can pivot quickly? Can you apply your unique skills to a wide range of bio & tech problems? Can you work with other stellar scientists skilled in orthogonal domains? Join us! jobs.lever.co/arcadiascien...

The thing about science is that if a phenomenon such as climate science weren’t real, they wouldn’t need an executive order forbidding its study. The better we explain the social processes of science, the clearer it will be to everyone that this EO is an admission that climate change is real.

This is so troubling. Measles, in particular, is no joke. There's a reason schools require the (safe & effective) measles, mumps, and rubella (MMR) vaccine for entering students. (1/11)

Super excited to share our new study from the @jbuenrostro.bsky.social Lab in @nature.com! We developed a computational method for tracking transcription factor and nucleosome binding using single-cell ATAC-seq and deep learning. Paper: www.nature.com/articles/s41...

📄 Free access to the full study: rdcu.be/d6VYU New from my team: In a study of over 2 million people, we comprehensively mapped the benefits and risks of GLP-1 (e.g. Ozempic and similar weight loss drugs) across 175 health conditions. Please share and download before it goes back behind paywall.

"This firehose of papers with no filter, some being completely free of content, manifestly wrong, or plain farcical are burying genuinely novel ideas...The origin of the problem is the wrong incentive structure" www.linkedin.com/posts/victor...

The world has passed “peak child”

Eugenics, statistical hubris, and unknowable unknowns in human genetics www.wiringthebrain.com/2025/01/euge...

My Co-founder Josh Weinsch took this photo of his little daughter’s bike, which was in their driveway when they evacuated. Their neighborhood was vaporized.

I wrote about the ongoing debates over genomic data sharing and the use of such data for "abhorrent science", including some perspective papers that came out last month. A few key points: 🧵

Friends and colleagues, I’ve written a book on effective functional genomics study design, which will be available on Amazon in a couple of weeks. Sharing the TOC to spark interest. I hope students and those planning genomics experiments will find it useful! I’ll share updates soon

I know everyone has been worn down by years of propaganda telling you to sacrifice your health for capitalism, but please understand that wildfire smoke is no joke. Its particles can penetrate deep into your lungs and bloodstream. Please wear a N95 or P100 mask at all times you are exposed.

The rapid growth of private equity in health care has attracted widespread attention & concern Our new @jama.com study finds that when private equity takes over a hospital, patients' care experience significantly worsens. jamanetwork.com/journals/jam...

“He has become, improbably, the first stop and last hope for many families who have watched for-profit drugmakers abandon the conditions that affect their children.” Nice piece, @jasonmast.bsky.social www.statnews.com/2024/12/09/p...

Remarkable work led by @vijayganesh.bsky.social using a global analysis of RNA splicing in undiagnosed genetic disease patients - yielding new diagnoses, and a new candidate disease gene! Congrats to Vijay, Maggie, and the whole team.

🚀 Calling all visionary scientists and engineers! Announcing our call for Focused Research Organization proposals in the UK. 🔬Submit your concept paper by Feb 7 & full proposal by March 28. More here: www.convergentresearch.org/frost-uk ⤵️

Excited to share our preprint: Cohort-level analysis of human de novo mutations points to drivers of clonal expansion in spermatogonia! We developed methods to uncover drivers of clonal expansions in sperm (CES) using 55k disease trios & gnomAD SNV data. www.medrxiv.org/content/10.1...

If enough universities drop their block journal subscriptions, at some point there will be a strong individual incentive to share preprints / deposit accepted manuscripts so that people actually read your work, and then there might be a self-reinforcing dynamic. How many needed for this to happen?

What Smartphones are doing to kids' mental health is NOT terrifying (no matter what a child psychiatrist says) theneuroscienceofeve... My response to the Guardian's latest 'Phones are destroying the children!!' article. As ever, it's... problematic #Phones #screens #brains

some super interesting pointers and takes in this thread

Our mentor Casey Brown, apart from being an extraordinary scientist, was a brilliant teacher who loved everything genetics. In his honor, some of the world's leading experts came together to create the 'Casey Brown Lecture Series' on human genetics 1/ shorturl.at/eCm7S

I've said it before, but the most interacted-with part of your paper is the title, followed by the abstract and Fig. 1, then steeply downhill from there. Plan accordingly.

Happy New Year everyone. I having pleasing maths to share (courtesy of my 18yo who saw it on insta). 2025 is the only square this century! 🤓

Can’t believe there were like 6 months last year when I thought I would have to use LinkedIn as my primary social media platform

Hear me loud and clear, please. The sole path to safely gene-edit people such as this remarkable family - is to gene-edit more people. More CRISPR trials for N=rare in blood, liver, eye, lung - will pave the way for editing the brain. www.nytimes.com/2024/12/22/h...

Many academics point to bioRxiv as “the one thing improving science publishing”. If so, the one thing you all can do is persuade colleagues to submit and make this a norm. 1/2

Linde Jacobs’s mother died after a genetic mutation gradually laid waste to her brain. Now the same gene is coming for her own mind. Can she find a way to stop it?

Very important paper: 2 billion dollars could save approx 500,000 children from dying from malaria. That's a very high ROI, easy to scale, and an issue we shouldn't drag our feet on. It took years of funding struggles to develop malaria vaccines in the first place. We can't let that happen again.

Insightful thread by @erikvannimwegen.bsky.social arguing for nudges in the publishing system instead of blowing it up. What I find curious is how our truly vast publishing ecosystem is stubbornly resistant to any *experimentation*. eLife tries a couple things and gets vilified. What the heck! 1/2

Excited to be tutoring at the Leena Peltonen School of Human Genetics on July 27-31, alongside a stellar crew. If you’re a late-stage or recently graduated PhD student this is an awesome opportunity to get 1:1 time with faculty at the cutting edge of genomics. Apply by March 7th at lpshg.com

The bendiness does not change THE BENDINESS DOES NOT CHANGE!! Behold, the curvature blindness illusion journals.sagepub.com/doi/10.1177/...

Why do association studies prioritize trait-specific variants??? A quick thread about the importance of thinking about all traits at once 👇 1/6 (🧪🧬)

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...