Our new paper is out! Tweetorial coming soon!

bioRxiv Genetics@biorxiv-genetic.bsky.social · 2mo ago

Accounting for recurrent mutation in the frequency spectrum of rare alleles https://www.biorxiv.org/content/10.64898/2026.05.29.728884v1

Accounting for recurrent mutation in the frequency spectrum of rare alleles https://www.biorxiv.org/content/10.64898/2026.05.29.728884v1

Yesterday our article was featured on the cover of Nature. I'm incredibly proud of this team, led primarily by Latin Americans, & the result of the decade-long work by @hunemeier.bsky.social & lab. Kudos to the 1st authors too (incl @macscastro.bsky.social here on 🟦☁️) www.nature.com/nature/volum...

Why do schizophrenia GWAS signals look so flat across the genome? In our recent preprint, we explored why psychiatric disorders — and, more broadly, brain-related traits involving the central nervous system — appear to have unusual genetic architectures. 🧵1/n

Great perspective by @philipcball.bsky.social. Elementary genetics teaching (HS/college) focuses on Mendelian traits (single gene => single trait). However, it is now clear that polygenicity and pleiotropy are the norm. Curriculum must change accordingly. www.sciencedirect.com/science/arti...

Should biology put complexity first?

The dictum “Everything should be made as simple as possible, but no simpler” poses a problem for biology. How simply can it be told without doing dama…

sciencedirect.com

Faculty position at the department of medicine, University of Chicago. Please share.

Yoav Gilad@ygilad.bsky.social · 8mo ago

academicjobs.uchicago.edu/positions/16...

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...

Specificity, length and luck drive gene rankings in association studies - Nature

Genetic association tests prioritize candidate genes based on different criteria.

nature.com

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/...

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...

journals.plos.org

Population Biology Modeling & Theory (PBMT) is a peer-reviewed journal reporting advances in modeling and theory within population biology. Its scope spans demography, ecology, epidemiology, evolutionary biology, population genetics, and phylogenetics. PBMT will be online soon.

My first paper as a PI is now out on PNAS! www.pnas.org/doi/full/10....

Why do males and females often differ in traits? The expected answer: selection. But our new paper in GENETICS shows that genetic drift alone can generate sexual dimorphism — even when male & female optima are the same

I heard in the elevator a graduate student joking about destroying their lab and starting over, and I was just thinking that the lab I did my PhD. in was actually completely destroyed this week.

Jennifer Blanc and @jeremyjberg.bsky.social use theory and simulations to study the process of testing for an association between polygenic scores and axes of ancestry variation when confounding factors are present. Learn more about their findings in #GENETICS: buff.ly/EmKpXyP

Out today in @pnas.org! www.pnas.org/doi/10.1073/...

Maggie Steiner@maggiesteiner.bsky.social · 2y ago

Excited to share a new preprint with @jnovembre.bsky.social ! We use a combination of population genetic theory, simulation, and data analysis to ask: how does study design in genetic studies (including biobanks) impact the discovery of rare, deleterious variants?

What is epistasis? New preprint Blue-torial! (Work by the wonderful postdocs Maryn Carlson and Bryan Andrews) www.biorxiv.org/content/10.1...

Robust detection of specific epistasis using rank statistics

The phenotypic effect of a mutation may depend on the genetic background in which it occurs, a phenomenon referred to as epistasis. One source of epistasis in proteins is direct interactions between r...

biorxiv.org

My most recent preprint, currently working on revising (some review suggestions were very helpful!). This comes from my NSF PRFB postdoc project in Annalise Paaby’s lab, on C. elegans regulatory rules from doing the first (we think) ASE study in this system. www.biorxiv.org/content/10.1...

Stabilizing selection and adaptation shape cis and trans gene expression variation in C. elegans

An outstanding question in the evolution of gene expression is the relative influence of neutral processes versus natural selection, including adaptive change driven by directional selection as well a...

biorxiv.org

www.biorxiv.org/content/10.1... Smart study to test whether lower prediction accuracy in non-Europeans is due to between-population differences in population structure, genetic nurture, or assortative mating.

Within-Family GWAS does not Ameliorate the Decline in Prediction Accuracy across Populations

As polygenic prediction extends beyond the research domain to involve clinical applications, the urgency of solving the "portability problem" becomes amplified -- that is, the fact that polygenic indi...

biorxiv.org

New work by Andy Dahl and Michal Sadowski on using GxE to study genetics of drug response now out in Cell Genomics www.cell.com/cell-genomic...

Characterizing the genetic architecture of drug response using gene-context interaction methods

Sadowski et al. propose a framework to study the genetics of response to commonly prescribed drugs in large biobanks. They quantify the heritability of response to statins, metformin, warfarin, and methotrexate, and identify associated genes. Their analysis also shows the importance of accounting for drug use in genetic risk prediction.

cell.com

Excited to share a new preprint with @jnovembre.bsky.social ! We use a combination of population genetic theory, simulation, and data analysis to ask: how does study design in genetic studies (including biobanks) impact the discovery of rare, deleterious variants?

bioRxiv Genetics@biorxiv-genetic.bsky.social · 2y ago

Study design and the sampling of deleterious rare variants in biobank-scale datasets https://www.biorxiv.org/content/10.1101/2024.12.02.626424v1

Very interesting work by Tade Souaiaia et al on the non-polygenic architecture of the extremes of complex traits. For many traits, polygenic scores show "regression to the mean" around the tails, as extreme traits are mostly due to rare alleles. www.biorxiv.org/content/10.1...

We are accepting applications for the 2025 Evolution Seminar Series Early Career Award here at UW-Madison. Deadline November 30. evolution.wisc.edu/seminars/ear... Please share with grad students and postdocs working in evolutionary biology!

Supplemental Figure 3. The demographic model

@popgengoogling.bsky.social · 2y ago

Could God make a demographic history so complex even she couldn't estimate N_e

Optimist: The cup is half full. Pessimist: The cup is half empty. Population geneticist: The cup is either a quarter full or overflowing and I can never remember whether there's a factor of two for haploids or diploids. bsky.app/profile/hutc...

Dave Hutchinson@hutchinsondave.bsky.social · 2y ago

Optimist: The cup is half full. Pessimist: The cup is half empty. Yorkshireman: A cup? Luxury!

A reminder for new folks. BlueSky does not have an algorithm to raise posts of interest. It is incumbent upon you to do so via reposting. Liking things only provides feedback to the poster but does not promote the post. The signal to noise ratio is taking a brief beating, so great to help curate.

Going Blue feels like taking a fresh breath after a long nasty cold... Happy to have a place to read, share, and talk about science. Welcome home!