Hakhamanesh Mostafavi
@hakha.bsky.social
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Assistant Professor at NYU Langone. Genetics, evolution and biology of complex traits and diseases.
pinned post!
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!
2 months ago
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Yun S. Song
4 months ago
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.
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Home - ProbGen 2026
Your Site Description
https://probgen2026.github.io
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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!
2 months ago
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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...
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Nahoft – Navona Records
Drawing its name from a melodic motif found in Iranian music, NAHOFT is the culmination of pianist Ava Nazar’s collaboration with the Iranian Female Composers Association, showcasing six woman compose...
https://www.navonarecords.com/catalog/nv6747/
2 months ago
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Jonathan Pritchard
3 months ago
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
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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.
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3 months ago
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Julia M. Rohrer
5 months ago
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:>
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Molly Przeworski
5 months ago
Amidst all the terrible and terrifying news, so lovely to hear of
@jkpritch.bsky.social
's election to the National Academy of Sciences. Congratulations!
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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...
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Donate to Support the Longest Running Community Chorus in the Bronx!, organized by Denise Wharton
Keep the Bronx Singing – Support the Bronx County Chorus! … Denise Wharton needs your support for Support the Longest Running Community Chorus in the Bronx!
https://www.gofundme.com/f/support-the-longest-running-community-chorus-in-the-bronx
5 months ago
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Molly Przeworski
5 months ago
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.
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2025 Human Genetics and Genomics Conference GRC
The 2025 Gordon Research Conference on Human Genetics and Genomics will be held in Portland, Maine. Apply today to reserve your spot.
https://www.grc.org/human-genetics-and-genomics-conference/2025/
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Jeff Spence
6 months ago
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...
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Whole-genome sequencing analysis of anthropometric traits in 672,976 individuals reveals convergence between rare and common genetic associations
Genetic association studies have mostly focussed on common variants from genotyping arrays or rare protein-coding variants from exome sequencing. Here, we used whole-genome sequence (WGS) data in 672,...
https://www.biorxiv.org/content/10.1101/2025.02.24.639925v1
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Tuuli Lappalainen
8 months ago
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...
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Samuel Pattillo Smith
8 months ago
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]
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A Litmus Test for Confounding in Polygenic Scores
Polygenic scores (PGSs) are being rapidly adopted for trait prediction in the clinic and beyond. PGSs are often thought of as capturing the direct genetic effect of one's genotype on their phenotype. ...
https://www.biorxiv.org/content/10.1101/2025.02.01.635985v1
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bioRxiv Genetics
8 months ago
The distribution of highly deleterious variants across human ancestry groups
https://www.biorxiv.org/content/10.1101/2025.01.31.635988v1
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JT Neal
8 months ago
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!)
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A genome-wide atlas of human cell morphology - Nature Methods
An optical pooled cell profiling platform (PERISCOPE) based on Cell Painting and optical sequencing of molecular barcodes was used to develop the first unbiased genome-wide morphology-based perturbati...
https://www.nature.com/articles/s41592-024-02537-7
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Sasha Gusev
8 months ago
How population stratification makes environments look like genes. A short 🧵:
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Jonathan Pritchard
8 months ago
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 🧵
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Jonathan Pritchard
8 months ago
Very excited about this new work from our lab! Explainer thread coming soon
@minetoota.bsky.social
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Matt Ming
8 months ago
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...
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No evidence for sex-differential transcriptomes driving genome-wide sex-differential natural selection
We assess the evidence for a genome-wide relationship between sex differences in gene expression and sex differences in natural selection. We develop an improved model for testing this association but...
https://www.cell.com/ajhg/fulltext/S0002-9297(24)00458-0
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Doc Edge
9 months ago
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...
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Donate to Help the Lim Family rebuild after the Altadena Eaton Fire, organized by roy yoo
On Wednesday, January 7th, the devastating Eaton fire in Altadena, C… roy yoo needs your support for Help the Lim Family rebuild after the Altadena Eaton Fire
https://www.gofundme.com/f/help-the-lim-family-rebuild-after-the-eaton-fire
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Axel Visel
9 months ago
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
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I’m thrilled to join
#GENETICS
as an associate editor!
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9 months ago
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Branden McEuen
9 months ago
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
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Itai Yanai
9 months ago
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)
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Sasha Gusev
9 months ago
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.
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Kaur Alasoo
9 months ago
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."
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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👇
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9 months ago
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Molly Przeworski
10 months ago
Most of the talks from our Oct meeting are now online, with a few more to come:
www.precisionmedicine.columbia.edu/videos
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Jeff Spence
9 months ago
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...
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Specificity, length, and luck: How genes are prioritized by rare and common variant association studies
Standard genome-wide association studies (GWAS) and rare variant burden tests are essential tools for identifying trait-relevant genes. Although these methods are conceptually similar, we show by anal...
https://www.biorxiv.org/content/10.1101/2024.12.12.628073v1
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Jonathan Pritchard
9 months ago
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
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Jonathan Pritchard
9 months ago
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:
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Jeff Spence
9 months ago
Why do association studies prioritize trait-specific variants??? A quick thread about the importance of thinking about all traits at once 👇 1/6 (🧪🧬)
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bioRxiv Genomics
9 months ago
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
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Eric Fauman (he/him)
9 months ago
@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."
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Jonathan Pritchard
10 months ago
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?
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Sasha Gusev
10 months ago
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 🧵:
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Book Review: Eric Turkheimer's "Understanding the Nature-Nurture Debate"
Or, some thoughts on The Gloomy Prospect and the Gloomy Present
https://open.substack.com/pub/theinfinitesimal/p/book-review-eric-turkheimers-understanding?r=43f9ax&utm_campaign=post&utm_medium=web&showWelcomeOnShare=true
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Kevin Bird
almost 2 years ago
Thread of some really great works out this week in the world of countering naive genetic thinking (e.g. hereditarianism, genetic determinism, scientific racism)
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Jeff Spence
11 months ago
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...
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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
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Home | Mostafavi Lab
https://mostafavilab.org
over 1 year ago
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Andres Bendesky
over 1 year ago
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...
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NYAPG24
Join us on Friday, May 17, 2024 for an all-day conference hosted at Columbia’s Zuckerman Institute showcasing research in evolutionary genetics. Alongside formal presentations, the conference will enc...
https://zuckermaninstitute.columbia.edu/new-york-area-population-genetics-meeting-nyapg24
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Genome Aggregation Database (gnomAD)
almost 2 years ago
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)
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Hakhamanesh Mostafavi
Aaron Quinlan (he/him)
almost 2 years ago
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...
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Jonathan Pritchard
almost 2 years ago
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"
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An Owner's Guide to the Human Genome
An Owner's Guide to the Human Genome
https://web.stanford.edu/group/pritchardlab/HGbook.html
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