Arbel Harpak

What James Watson got wrong about DNA - The Boston Globe The science he helped pioneer consistently undermines his view that genes determine everything about us.

"What James Watson got wrong about DNA"

By the great Sohini Ramachandran (@sramach.bsky.social) and your boy for The Boston Globe (@bostonglobe.com).

www.bostonglobe.com/2025/11/14/o...

My department at UT Austin is looking to hire an Assistant Professor in Evolutionary Biology, broadly defined. Feel free to reach out to me with any questions you may have.
apply.interfolio.com/177547

An empirical approach to evaluating the prevalence of long-lived balancing selection in humans--and important limitations. Work by @hannahmm.bsky.social

@jbenning.bsky.social @jedidiahcarlson.com
et al. exemplify how confounding can lead to flawed inference on genetic causality. In studies of human behavior and social outcomes, the cost of downplaying this problem can be steep. royalsocietypublishing.org/doi/epdf/10.... bsky.app/profile/jben...

Simple scaling laws control the genetic architectures of human complex traits Genome-wide association studies have revealed that the genetic architectures of complex traits vary widely. This study shows that differences in architectures of highly polygenic traits arise mainly f...

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/...

If you are at #ASHG2025 and would like to chat in person, please reach out! My lab is looking for curious scientists to join us, especially (but not limited to) postdoctoral researchers.

Not necessarily a bad thing: perhaps your subscribers could use a little more boring in their lives.

The Length of Haplotype Blocks and Signals of Structural Variation in Reconstructed Genealogies Abstract. Recent breakthroughs have enabled the accurate inference of large-scale genealogies. Through modelling the impact of recombination on the correla

Delighted that our paper about the distribution of genomic spans of clades/edges in genealogies (ARGs), and using this for detecting inversions and other SVs (and other phenomena that cause local disruption of recombination) is out in MBE academic.oup.com/mbe/article/... (1/n)

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.

Escape from X inactivation drives sex differences and female trait variation X chromosome inactivation (XCI) partially balances gene dosage between sexes, yet expression from the inactive X (Xi) is variable across genes. In this study, we investigate whether gene-level Xi expr...

1/13 In a new preprint, we (with @xliaoyi.bsky.social‬ in the ‪@arbelharpak.bsky.social‬ lab) find that expression from the “inactivated” X (Xi) is consequential for both female-male differences in gene expression and variation among females in disease and physiology: www.biorxiv.org/content/10.1...

Applications for the 2026 Stengl-Wyer Scholars Program are open! The program provides up to 3 years of support for talented postdoctoral researchers in the broad area of the diversity of life and/or organisms in their natural environments. Learn more here: utexas.infoready4.com/CompetitionS...

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

Characterizing selection on complex traits through conditional frequency spectra Abstract. Natural selection on complex traits is difficult to study in part due to the ascertainment inherent to genome-wide association studies (GWAS). Th

a quick note on my paper with @jeffspence.bsky.social and @jkpritch.bsky.social on conditional frequency spectra, now out in a @genetics-gsa.bsky.social special issue: doi.org/10.1093/genetics/iyae210

More recently, Smith et al. (biorxiv.org/content/10.1...) proposed an estimator of polygenic score confounding that can be directly attributable to stratification/ancestry. They show that it is present in target data from Europe, other continents, even ancient DNA!

How population stratification led to a decade of sensationally false genetic findings Stratification makes environments look like genes

I wrote about how population stratification in genetic analyses led to a decade of false findings and almost certainly continues to bias emerging results. But we are starting to have statistical tools to sniff it out. A 🧵:

Variable prediction accuracy of polygenic scores within an ancestry group The prediction accuracies of polygenic scores in humans vary depending on the characteristics of the samples, as well as based on the study design, within a single ancestry group.

elifesciences.org/articles/48376

www.nature.com/articles/s41...

www.biorxiv.org/content/10.1...

I find it hard to think of any application where it does not matter. It puts in further question the generalizability of the to samples/patients with different characteristics from the GWAS sample, since axes of confounding may differ.

Trump maintains funding freeze at NIH, defying court order The Trump administration is still prohibiting National Institutes of Health (NIH) staff from issuing virtually all grant funding, an NIH official tells Popular Information.

BREAKING

The Trump administration is maintaining a funding freeze at the National Institutes of Health (NIH) in defiance of two federal court orders.

The ongoing freeze was confirmed by an NIH official and internal correspondence reviewed by Popular Information.

The End of Science’s Peacetime Opinion | Defending the practice of science from its adversaries will require dealing with some uncomfortable truths.

"One thing is certain: The changes we make ourselves will be healthier than the ones our adversaries demand."

New work for @undark.org:
undark.org/2025/02/06/o...

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 A major focus of human genetics is to map severe disease mutations. Increasingly that goal is understood as requiring huge numbers of people to be sequenced from every broadly-defined genetic ancestry...

“The distribution of highly deleterious variants across human ancestry groups”. Preprint with Anastasia Stolyarova and @gcbias.bsky.social: www.biorxiv.org/content/10.1...

Undergrads: apply to NYU's Summer Undergraduate Research Program in Biology!
10 weeks of research in a structured setting, featuring terrific mentors, exciting biology, housing in New York, and a stipend.
as.nyu.edu/biology/outr...

If you’ve been directly impacted by a pause or cancellation of an NIH study session, we @forbes.com would like to talk to you

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...

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...

My lab (aprilweilab.github.io) continues to develop GRG and ARG related methods & more. We are looking for a postdoc to join us.

A screenshot of a paper on bioarxiv illustrating the lack of blue sky share button!

Would you like to see @biorxivpreprint.bsky.social add a share to blue sky button?! I know I would! Share this post to let @richardsever.bsky.social @erictopol.bsky.social and others at bioarxiv know!

That's simply because there's no one like you. Grateful to have you back!

Three open-rank positions at UT Austin:
Cluster in Advances in Artificial Intelligence and Data Science for Environmental Systems
Apply here: apply.interfolio.com/158908

For many traits there is a correlation between the number of duplications or loss-of-function (LoF) mutations someone carries, and their phenotype. Curiously, for most traits, these effects are aligned in the SAME direction. Why?

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