Why do some individuals defy their polygenic score? In the largest study of its kind (402k UKB individuals; 7 continuous traits + 3 diseases), we asked: If your phenotype deviates from common-variant polygenic score prediction, what's driving that difference? www.medrxiv.org/content/10.6...

How do the metabolic waste products get cleared from our brain? And how does this process intersect with the brain's immune system? An exceptional review by @jonykipnis.bsky.social and colleagues cell.com/neuron/fullt...

Excited to welcome @nmancuso.bsky.social! Join us tomorrow to learn about cutting edge methods for investigating regulatory genetic effects in diverse cell types and populations! 🧬🤩 @dbdsstanford.bsky.social @stanfordeph.bsky.social

How do GWAS and rare variant burden tests rank gene signals? In new work @nature.com with @hakha.bsky.social, @jkpritch.bsky.social, and our wonderful coauthors we find that the key factors are what we call Specificity, Length, and Luck! 🧬🧪🧵 www.nature.com/articles/s41...

Genomic superstar @chundru.bsky.social taking on fake-news genotypes in >900k individuals. He shows allele-level filtering is rarely suffifient, and makes the brave choice to properly tackle chrX! We’ll be providing our filtered AoU WGS plink pgens for all registered users: watch this space

A few programming notes for #ashg25 from trainees in my group @mdanderson.bsky.social + a thread of me being a proud PI. Please drop by these sessions and talk to @taylorhead.bsky.social, @seantbres.bsky.social , @ytchang11.bsky.social, and me in Boston @geneticssociety.bsky.social next week!

Samples of DNA collected from thousands of Ukrainians are part of a study probing the genetics of type 1 diabetes. https://scim.ag/4nabr6B

Can anyone recommend a good immigration lawyer?

Happy to see this online! Having an extra sex chromosome really challenge the binary definition of sex based on XX and XY. So it is not only a medical, but also an important societal question.

Grateful for this terrific commentary by @tomonroe.bsky.social in @jclinical-invest.bsky.social on our paper that is out in final print format today: www.jci.org/articles/vie... Please check it out: www.jci.org/articles/vie...

Our new AJHG paper is online. We develop a new TWAS tool that uses local-ancestry information to improve power of gene mapping in admixed samples. Lead author Taylor Head (now at MD Anderson) did a phenomenal job spearheading this work!

A final point about trust. Herasight has apparently partnered with Heliospect Genomics, founded by self-described eugenicist Jonathan Anomaly (a member of both companies). Anomaly and Heliospect were profiled last year by Hope Not Hate: investigations.hopenothate.org.uk/superbaby-fa...

We have 2-3 group leader positions opening @fimm-uh.bsky.social !! We are looking for outstanding candidates in human genetics and precision medicine. This time we have a focus on population health data science. E.g. AI for EHR/health data        Generous starting package 💰 shorturl.at/FAk6n

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!

IDH mutations are some of the most informative prognostic markers for #glioma. Our small, proof-of-concept study shows that #multimodal classifiers that include #polygenic risk scores can improve pre-operative molecular subtyping: www.nature.com/articles/s41... 🧠🧬 @stanford-cancer.bsky.social

New online! Making sense of the polygenicity of complex traits

Our paper on the theoretical properties of SNP heritability in admixed populations is out in Genetics: academic.oup.com/genetics/adv... with @jinguohuang.bsky.social, @nicole-kleman.bsky.social , Saonli Basu, and Mark Shriver

It's that time of the year again: ASHG Abstracts! ASHG has always provided an excellent avenue to present novel methods in StatGen and GenEpi, get early feedback, and meet your colleagues! Deadline is June 9th, so still plenty of time :D Link below 👇 www.ashg.org/meetings/202...

Check out our scPrediXcan paper www.cell.com/cell-genomic... Led by the talented @Charles_Zhou12 and supervised by @MengjieChen6 and me, with thanks to many contributors. scPrediXcan integrates deep learning and single cell expression data into a powerful cell type specific TWAS framework.

I'm excited to share our latest work, now out in #PLOSGenetics! If you feel limited by linear models in TWAS or PWAS but don't think you can switch to nonlinear methods due to a lack of individual-level phenotype data, this paper is for you. 🔗 journals.plos.org/plosgenetics... Thread below 👇 (1/6)

Hating on “Big Pharma”? Cool, it’s a $1.6 trillion regulated industry. But hang on…the $6.3 trillion wellness industry sells you mushroom tea, dewormers, crash diets, and alkaline water—no regulations, no oversight. But hey, it’s ‘natural,’ right?

3/n Genetic correlation is straightforward but remember HLA - largely impacting T1D & other AIDs - is excluded by LDSC. If genetic correlation is a genome-wide non-HLA measurement, how can we get HLA back into the game? We built a within-sample HLA PGS with weighted ridge classifiers in FinnGen.

🚨 New paper 🚨 Do known genetic factors for obesity and type 2 diabetes affect weight loss from GLP1-RA (Ozempic) or bariatric surgery? 🔍 10,960 people, 9 biobanks, 6 countries 🧬 Minimal genetic impact on GLP1-RA response 📉 Modest effect after surgery www.nature.com/articles/s41...

I started a newsletter. My first post is going to be a deeper dive into insider trading on Wednesday. I’ll be writing about tech, San Francisco, politics, and AI. With kindness. I’d be grateful for any boosts as I’m excited and nervous for this. data-and-politics.ghost.io

Accurately describes the phenomenon of Bureaucratic Capture, where a bureaucracy is set up to serve an organization, but everyone ends up serving the bureaucracy instead (not confined to universities, of course)

1/ Hey y'all, I'm excited to share my latest paper, which is out now in PNAS! We introduce FAVA, a statistical framework to measure compositional variability across microbiome samples. If you want to measure variability across a stacked bar plot, FAVA is for you! Paper: doi.org/10.1073/pnas...

Wishing a joyous St. Patrick's Day to everyone celebrating ☘️☘️☘️

RNA xkcd.com/3056

Given several new followers here, I'm posting the link to our Slack group "genetic genealogy science". We post and discuss manuscripts on phasing/imputation, IBD, recombination, demographic inference, ancient DNA, ancestry/admixture, etc. All are welcome. join.slack.com/t/geneticgen...

Also out today is this multi-ancestry PGS for PSA! 🔗: www.pgscatalog.org/publication/...

📢 Thrilled to see this out, an atlas of e/sQTL across multiple tissues and diverse ancestries in 14,324 TOPMed participants: www.medrxiv.org/content/10.1... Grateful to the #TOPMed #Omics WG for giving me an opportunity to learn and contribute to this important work 🧬

5⃣pQTLs for circulating proteome in children & adolescents In a population of 2,147 children & adolescents, 733 genetic variants were identified that influence levels of 433 proteins. Great resource for GWAS follow-up analyses — available pQTL data come from adults 🔗 www.nature.com/articles/s41...

It was awesome to see the range of molecular & genetic epidemiology research being done in our department! Thank you @martinafu.bsky.social @danielpanyard.bsky.social and Javier Perez Garcia for making our Flash Talks a success 🤩

Stanford Medicine researchers sifted through thousands of single nucleotide mutations in DNA to identify fewer than 400 that are functionally associated with inherited cancer risk. med.stanford.edu/news/all-new...

📣 Happy to share our latest paper - an exciting step forward for PSA genetics with a much larger and more diverse GWAS and a more predictive PGS ⚡️ @johnwitte.bsky.social @stanford-cancer.bsky.social @stanfordmedicine.bsky.social

Excited to share our latest work exploring the role of germline genetics in the development of multiple primary cancers @lindakachuri.bsky.social @jovia-n.bsky.social @johnwitte.bsky.social

Peter Visscher is a luminary in human genetics, but in this case, he is completely wrong. Here's why 🧵 www.nature.com/articles/s41...

📣Online now! 📄Characterizing substructure via mixture modeling in large-scale genetic summary statistics 🧑‍🤝‍🧑 @audreyhendricks.com & colleagues

My book, An Intuitive Primer on Effective Functional Genomics Study Design, is published! I’d really appreciate it if you could help spread the word, and I’d love to hear your thoughts and feedback. I hope people will find it useful. It’s available on Amazon: tinyurl.com/mx2hewen

Truveta has built a database of 120M de-identified EHRs for digital phenotyping—and now they're teaming up with Regeneron and Illumina to sequence 10M patients across 30 US health systems. 🧬 Major move for precision medicine! www.geekwire.com/2025/seattle...

This paper was a long time coming, happy to see it out today in @naturecomms.bsky.social: www.nature.com/articles/s41... We found some interesting links between genetic regulation of blood cell traits and #glioma risk + survival, pointing to #immune related mechanisms 🧠🧬

A New Year's rant, for 2025 😊:

How to do differential expression with scRNAseq data? State of the art is "pseudo-bulk" analysis with RNA-seq methods like edgeR or DESeq2, where "cell type" is encoded as discrete categories. Biologically, discrete categories are not always the most appropriate concept.(1/3) doi.org/10.1038/s415...

A patient’s polygenic risk score may be able to help clinicians differentiate the more dangerous prostate cancers from those that will never cause an issue, according to research by Fred Hutch and scientists from the Canary Prostate Active Surveillance Study. bit.ly/3ZTJBSM

Scientists, academics, researchers: We’re excited to share that @altmetric.com is now tracking mentions of your research on Bluesky! 🧪

Work by PhD student @jayatirsharma.bsky.social on how grouping Hispanic/Latino participants into a single group can obfuscate substantial substructure, leading to false conclusions. We show how heterogeneity by background group wrt genetic ancestry and environment can affect genetic risk models.

Please join us next spring in Durham when we host the annual meeting of the Brain Tumor Epidemiology Consortium (BTEC) focused on brain metastasis! Registration and abstract submission open now with junior investigator travel awards available. sites.usc.edu/braintumorca...

👀🔖 Thank you for this compilation @shaicarmi.bsky.social - the @prsdiversity.bsky.social consortium reviewed several PRS methods for diverse populations in this @naturerevgenet.bsky.social 2023 commentary led by @lindakachuri.bsky.social and Tian Ge, pubmed.ncbi.nlm.nih.gov/37620596/

Policy makers, journalists, and the public should consider what it means if the incoming head of NIH failed to design, execute, interpret, and communicate a public health study in a critical moment in the pandemic, and continued to double-down on the interpretation.