Keeping fuel duty at the same level for 15 years, while phasing in a cumbersome-to-implement tax on EV owners seems insane. www.bbc.com/news/article...

PRSformer: Disease Prediction from Million-Scale Individual Genotypes [new] Deep learning w/ neighborhood attention predicts disease from million-scale genotype data by learning genetic interactions.

I wrote a little bit about the "missing heritability" question and several recent studies that have brought it to a close. A short 🧵

The field has also gained leverage from personal genomics initiatives, as in this study of ~52k adults answering “yes” to “have you been diagnosed with dyslexia?” vs >1 million responding “no”, which found 42 associated loci + high genetic overlap with directly assessed reading/language skills. 10/n

Delighted to see our method, PRSformer, at #NeurIPS2025! PRSformer is AI model for population-scale disease-risk prediction from individual genomes. It lays the groundwork for phenome-wide risk prediction. www.biorxiv.org/content/10.1...

PRSformer: Disease Prediction from Million-Scale Individual Genotypes https://www.biorxiv.org/content/10.1101/2025.10.26.684578v1

The brilliant Sarah Senk, together with Taiyo Inoue, has just launched a podcast that explores the implications of AI for higher education: My Robot Teacher. Please give it a listen! #MyRobotTeacher #HigherEd www.youtube.com/watch?v=H2Ta...

YOUR 2024/25 CARABAO CUP WINNERS 😍

On the x-axis is every human gene, ranked by number of publications containing mention of the gene name. Lots left to discover...

We're hiring a postdoc to help shape our autism research program; please consider applying. www.23andme.com/careers/jobs...

"the science of extreme longevity continues as an immense joke." www.nytimes.com/2025/01/20/o...

We're looking for a talented statistical geneticist to come work with us! www.23andme.com/careers/jobs...

We're looking for a talented statistical geneticist to come work with us! www.23andme.com/careers/jobs...

Humans tend to inherently believe that context matters. But context doesn’t seem to matter all that much in genetics. Epistasis between mutations doesn’t seem to influence their stability in this amazing saturation mutagenesis paper. www.nature.com/articles/s41...

So given that, can you spot the error right at the start of this Wikipedia article on HERC2? "HERC2 is a giant E3 ubiquitin protein ligase, implicated in DNA repair regulation, pigmentation and neurological disorders."

Good news, Altmetric has now started watching BlueSky for mentions of publications. And by the way, provides an easy comparison between this and the old site for a recent preprint of mine which I posted simultaneousl at both. Numbers speak by themselves !

Yesterday was a hard day at 23andMe, and we said goodbye to a number of tremendously talented colleagues. If people have job openings in the genetics space that they'd like me to share with the impacted folks, please do post here.

Today seems like a good day to share this Scientific American story on how vaccines have saved more lives throughout history than any other intervention www.scientificamerican.com/article/see-...

Hello #ASHG 2024!

I want to try something new at #ASHG24 this year: I'm going to block some time on Friday afternoon to meet with any trainees who would be interested to chat on any topic.

Long COVID #GWAS preprint identifies #HLA class II associations | #23andMe www.medrxiv.org/content/10.1...

I made a starter pack full of statistical genetics (adjacent) scientists. it covers all flavours of behaviour, psychiatric, social science and population genetics people. One click follow all of em! let me know if I missed key people!

In the latest edition of "Huh, I didn't expect that to work", our latest paper shows that LLMs can outperform existing methods for identifying causal genes in genome-wide association studies. www.medrxiv.org/content/10.1...

I recently made a comic complaining that NASA refuses to listen to my good ideas for improving the Solar System (xkcd.com/2750). To my delight, NASA’s Science Mission Directorate has sent me an actual expert panel evaluation of my “flatten the planets” proposal! Sadly, they decided not to fund it.

Science making progress on the important questions! www.nature.com/articles/s42...

A real moonshot project in biomedical research would be a decisive legal, regulatory and IT effort to really make data access work for researchers across the world. It's not as sexy as AI, CRISPR, or ginormous sequencing projects, but more transformative and better bang for the buck.

Is there a list of evolutionary “mistakes” but for the genome, not just physiology? That is things that came to be but aren’t good for long term fitness

Our paper, showing PRS are predictive of incident disease - not just classifiers of existing disease: www.medrxiv.org/content/10.1...

This is just a filter I’m holding, not a lens, so that’s the actual angular size of the sun in the photo. I’m always a little unnerved to realize how small the sun is when you take away all the glare.

This is a really important study that gives at least a partial answer to a question that I've got since the earliest GWAS: do susceptibility alleles affect progression? The answer for these diseases is a pretty strong "No" for _mortality_, which may or may not be a good surrogate for progression 1/n

Is the genetics of disease susceptibility and progression shared? 🤷‍♂️ We look at this question within a global biobank collaboration across 10 major diseases

Latest from Xilin Jiang, Alkes Price, Gil McVean and co 👉 Age-dependent topic modeling of comorbidities in UK Biobank identifies disease subtypes with differential genetic risk www.nature.com/articles/s41...

I'm delighted to release the first half of my new textbook in human genetics: web.stanford.edu/group/pritch... "An Owner's Guide to the Human Genome: an introduction to human population genetics, variation and disease"

Free test ordering starts up again today. www.covid.gov/tests

Excited about our new paper! We developed a DL model to predict 1y mortality in the full Finnish population using A LOT of longitudinal information. This “digital aging marker” is very accurate, but with some interesting and important caveats www.medrxiv.org/content/10.1...

I went to a place

This is absolutely gorgeous and kinda kind-blowing. A reconstruction of the great city of Tenochtitlán. tenochtitlan.thomaskole.nl

Fingers crossed this is the new place for Science Twitter. Nth time lucky?