Very excited for our paper in @nature.com on what genes association studies discover and why. It was a privilege to work closely with @jeffspence.github.io, @jkpritch.bsky.social, and our collaborators.

Excited to share our latest work on the factors that determine what genes we find (and don't find!) in GWAS and burden tests. We describe a critical concept that we call *specificity*. Led by Jeff Spence and Hakhamanesh Mostafavi:

How does life evolve to adapt to modern cities? Out now in Science, my PhD work with @lindymcbr.bsky.social uncovers the ancient origin of the “London Underground mosquito” – one of the most iconic examples of urban adaptation. 🧵(1/n) @science.org www.science.org/doi/10.1126/science.ady4515

Why do complex traits differ in their genetic architecture? In our new PLOS Biology paper, we will try to convince you that two simple scaling laws drive differences in the number, effect sizes and frequencies of causal variants affecting complex traits. Thread: journals.plos.org/plosbiology/...

I’ll be attending #ASHG25! I’m currently hiring for (i) a Senior Research Scientist or (ii) a Postdoc position in my lab. If you’re interested, please reach out to arrange a time to meet and discuss.

Bittersweet to be leaving @docedge.bsky.social after a wonderful postdoc, but excited to share that I'm joining @uoregon.bsky.social next month as an Assistant Professor in the Department of Data Science.

The 2026 Probabilistic Modeling in Genomics (ProbGen) meeting will be held at UC Berkeley, March 25-28, 2026. We have an amazing list of keynote speakers and session chairs: probgen2026.github.io Please help spread the news.

I'm thrilled that my lab at NYU is now supported by an NIH MIRA grant! I'm looking to hire 1-2 senior lab members (outstanding postdoc candidates or experienced staff scientists) with expertise in computational or statistical methods in human genetics or genomics. Please share!

A brief musical note: I’m very excited to share that my brilliant wife, a pianist and composer, has just released her debut album featuring works by Iranian women composers, including one of her own. Here is the link in case you’d like to take a listen: www.navonarecords.com/catalog/nv67...

Staff scientist position (computational): I am looking for a computational scientist to join my genomics lab at Stanford. They should have an outstanding skillset in ML/statistical methods for genomic applications, postdoc experience and a strong publication record. #sciencejobs

It was fun writing this short piece on the omnigenic model. Sharing it here, though it's a painful time as my family, along with millions of others, is at risk in Iran and the region.

Thanks to everybody who chimed in! I arrived at the conclusion that (1) there's a lot of interesting stuff about interactions and (2) the figure I was looking for does not exist. So, I made it myself! Here's a simple illustration of how to control for confounding in interactions:>

Amidst all the terrible and terrifying news, so lovely to hear of @jkpritch.bsky.social's election to the National Academy of Sciences. Congratulations!

I've been singing with the Bronx County Chorus since 2015. It's a beautiful, intergenerational community bringing free music to the Bronx since the 1930s. With grants shrinking, they now need support to keep going. If you can, please consider helping: www.gofundme.com/f/support-th...

Posting on behalf of Shamil Sunyaev: Eimear(Vice Chair) and I (Chair) are organizing the 2025 Gordon Research Conference (GRC) on Human Genetics and Genomics, which will be held on July 6-11, 2025 in beautiful University of Southern Maine, Portland, Maine.

A really nice paper by @drghawkes.bsky.social et al. argues that rare and common genetic associations converge on the same genes. While this seems at odds with our recent work about how burden tests and GWAS prioritize different genes, our results agree (🧬🧪🧵 1/6) www.biorxiv.org/content/10.1...

One month to go until the CSHL Biology of Genomes abstract deadline! My all-time fav meeting, and one of the few covering genomics broadly. We have a ✨🤩 lineup of speakers, but it's the abstract talks & posters that really make the meeting - send us your best work! meetings.cshl.edu/meetings.asp...

Think of a polygenic score you care about. Are direct genetic effects driving variation among people in this predictor? Or perhaps other, confounding factors? We at the @arbelharpak.bsky.social & @docedge.bsky.social Labs developed a method to tackle this question. [1/n]

The distribution of highly deleterious variants across human ancestry groups https://www.biorxiv.org/content/10.1101/2025.01.31.635988v1

Our paper “A genome-wide atlas of human cell morphology” is finally out today in @naturemethods.bsky.social ! www.nature.com/articles/s41... (I tweeted about our preprint in 2023 over at the bad place, but deactivated my account, so here we go again!)

How population stratification makes environments look like genes. A short 🧵:

Modern GWAS can identify 1000s of significant hits but it can be hard to turn this into biological insight. What key cellular functions link genetic variation to disease? I'm very excited to present our new work combining associations and Perturb-seq to build interpretable causal graphs! A 🧵

Very excited about this new work from our lab! Explainer thread coming soon @minetoota.bsky.social

I am excited to share the first first-author paper of my PhD describing work with Changde Cheng, Mark Kirkpatrick and @arbelharpak.bsky.social has been published at AJHG! We ask if sex-differential gene expression drives sex-differential selection in humans. (1/14) www.cell.com/ajhg/fulltex...

Our daughter's wonderful teacher and her family lost everything in the Eaton fire. If you can spare a few dollars to help out, I would be grateful www.gofundme.com/f/help-the-l...

Now available as preprint: The ENCODE 4 expanded registry of regulatory elements - 2.35M 🧍 human cCREs - 927k 🐭 mouse cCREs www.biorxiv.org/content/10.1... Led by @moorejille.bsky.social, this preprint summarizes data and analyses generated by hundreds of contributors across ENCODE 4

I’m thrilled to join #GENETICS as an associate editor!

I truly think teaching the complexities of inheritance to demonstrate that it’s more than simple Mendelian genetics that explains traits would help reduce the number of people who believe in genetic determinism. Disease would be a fruitful start to that but it can be applied to a variety of traits

The secret sauce for starting a new lab is to set up the right kind of culture; one that best enables innovative science with its “enthusiasm, lucid criticism, nonconformism, and friendship” (Francois Jacob)

Very cool paper. Something I have always been curious about is the extent to which rare burden trait-specific genes are themselves regulators of pleiotropic genes. I.e. the genes on the bottom are TFs for the variants on the top.

A great paper and a great thread! One point that I partcularly liked was this one: "In particular, [GWAS] variants can be trait specific in two ways: they can either affect a trait-specific gene or affect a pleiotropic gene in a context-specific manner."

Excited to share our latest work! We find that common-variant GWAS and rare-variant burden tests prioritize genes in fundamentally different ways, with important implications. Check out Jeff’s excellent thread below👇

Most of the talks from our Oct meeting are now online, with a few more to come: www.precisionmedicine.columbia.edu/videos

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...

Super excited to release this new preprint: Jeff and Hakhamanesh drill into key questions about GWAS and rare variant studies: What SNPs and genes do these discover, and why? We introduce a concept called SPECIFICITY, which we show is a fundamental determinant of what is found in GWAS/ RV studies

If you do GWAS or rare variant association studies, check out this short thread on the concept of SPECIFICITY, and why it is a major determinant of what we find:

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

Specificity, length, and luck: How genes are prioritized by rare and common variant association studies https://www.biorxiv.org/content/10.1101/2024.12.12.628073v1

@jkpritch.bsky.social Looks fascinating. Is there a bluesky thread about this somewhere? "We find that GWAS prioritize genes near trait-specific variants, while burden tests prioritize trait-specific genes."

In a new preprint led by @TheNikhilMilind, we explored a fascinating paradox: For many traits the number of duplications or loss-of-function (LoF) mutations is correlated with phenotype. Curiously, for most traits, the AVERAGE direction of LoFs and Dups is the SAME. Why?

I wrote about Eric Turkheimer's recent book on "the nature-nurture debate", which should be of interest to people thinking not just about the genetics of behavior but complex traits more broadly. A 🧵:

Thread of some really great works out this week in the world of countering naive genetic thinking (e.g. hereditarianism, genetic determinism, scientific racism)

Another cool part of @nikhilmilind.dev 's paper was that he spent a lot of time optimizing burden tests (LoFs, deletions, duplications), and all of those summary data (410 traits!) are released here: doi.org/10.5281/zeno...

We have multiple postdoc positions available in my group at NYU. Join us if you're interested in complex trait genetics and biology. More information about the lab on our website: mostafavilab.org

Come join us in the Zuckerman Institute at Columbia on May 17th for the 2024 New York Area Population Genetics Meeting. Keynotes by Lindy McBraide and Cedric Feschotte Register here zuckermaninstitute.columbia.edu/new-york-are...

The #gnomAD team is proud to announce the release of gnomAD v4! The v4 dataset includes 730,947 exomes & 76,215 genomes, which is ~5x larger than the v2 & v3 releases combined, & includes nearly 120K indivs of non-European genetic ancestry broad.io/gnomad #ASHG23 (1/11)

The Dept of Human Genetics is hiring computational genomics faculty again this year! Last year we recruited Xiaoxu Yang - please apply to join him and our human, computational, developmental, and evolutionary genetics faculty. Please spread the word! utah.peopleadmin.com/postings/153...

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"