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Reposted by Linda Kachuri

Science Magazine @science.org · 18d

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

Amid war, a Ukrainian genomics research program blooms

Inaugural project for new center searches for genes involved in diabetes

www.science.org

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Linda Kachuri @lindakachuri.bsky.social · 18d

Can anyone recommend a good immigration lawyer?

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Andrea Ganna @andganna.bsky.social · Aug 22

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.

The American Journal of Human Genetics @ajhgnews.bsky.social · Aug 20

📣Online now!
📄 #PheWAS of male and female sex chromosome trisomies in 1.5 million participants of MVP, FinnGen, and UK Biobank
@finngen.bsky.social @ukbiobank.bsky.social

Phenome-wide association study of male and female sex chromosome trisomies in 1.5 million participants of MVP, FinnGen, and UK Biobank

We examined disease associations for sex chromosome trisomies (SCTs) by performing a phenome-wide association study in 2,769 individuals with SCT (47,XXY: 1,319; 47,XYY: 1,108; and 47,XXX: 342). Many ...

www.cell.com

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Vijay G. Sankaran @bloodgenes.bsky.social · Aug 15

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...

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Michael Epstein @epsteinstatgen.bsky.social · Jun 23

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!

The American Journal of Human Genetics @ajhgnews.bsky.social · Jun 20

🚨New method!
📄CADET: Enhanced transcriptome-wide association analyses in admixed samples using eQTL summary data
🧑‍🤝‍🧑 @epsteinstatgen.bsky.social @yjingj.bsky.social & co

CADET: Enhanced transcriptome-wide association analyses in admixed samples using eQTL summary data

CADET is a transcriptome-wide association test for admixed cohorts that leverages local ancestry information to improve detection of trait-influencing genes. CADET outperformed existing methods using ...

www.cell.com

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Sasha Gusev @sashagusevposts.bsky.social · Aug 2

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...

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Andrea Ganna @andganna.bsky.social · Jun 1

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

FIMM-EMBL Group Leaders in Molecular Medicine

jobs.helsinki.fi

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Nicholas Mancuso @nmancuso.bsky.social · Jul 21

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!

Nature Genetics @natgenet.nature.com · Jul 21

📢OUT TODAY @natgenet.nature.com

📰Improved multiancestry fine-mapping identifies cis-regulatory variants underlying molecular traits and disease risk.

By @zeyunlu.bsky.social, @nmancuso.bsky.social and colleagues.

⬇️

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

Improved multiancestry fine-mapping identifies cis-regulatory variants underlying molecular traits and disease risk - Nature Genetics

SuShiE is a multiancestry fine-mapping method for molecular quantitative trait loci that leverages linkage disequilibrium heterogeneity to improve resolution, infer cross-ancestry effect size correlat...

www.nature.com

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Linda Kachuri @lindakachuri.bsky.social · Jun 21

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

Integration of MRI radiomics and germline genetics to predict the IDH mutation status of gliomas - npj Precision Oncology

npj Precision Oncology - Integration of MRI radiomics and germline genetics to predict the IDH mutation status of gliomas

www.nature.com

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Nature Reviews Genetics @natrevgenet.nature.com · Jun 16

New online! Making sense of the polygenicity of complex traits

Making sense of the polygenicity of complex traits

Nature Reviews Genetics, Published online: 16 June 2025; doi:10.1038/s41576-025-00866-7Hakhamanesh Mostafavi recalls a landmark paper by Boyle et al. on the omnigenic model, which proposed that complex traits are influenced by thousands of genes across the genome, including many that are only indirectly related to a trait through regulatory networks.

www.nature.com

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Arslan Zaidi @aazaidi.bsky.social · May 25

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

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Nicholas Mancuso @nmancuso.bsky.social · May 15

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...

Abstracts

Abstract submission for ASHG 2025. We encourage you to submit your latest research on human genetics and genomics for programming at the ASHG 2025 Annual Meeting.

urldefense.com

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Haky Im @hakyim.bsky.social · May 14

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.

scPrediXcan integrates deep learning methods and single-cell data into a cell-type-specific transcriptome-wide association study framework

Zhou et al. introduce scPrediXcan, a novel transcriptome-wide association study framework that integrates the deep learning-based model ctPred for cell-type-specific expression prediction. Applied to ...

www.cell.com

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Mykhaylo M. Malakhov @mykmal.xyz · May 7

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)

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Dr Kat, Epidemiologist @epidemiologistkat.bsky.social · Apr 30

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?

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Aoxing Liu @aoxing2.bsky.social · Apr 28

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.

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Andrea Ganna @andganna.bsky.social · Apr 18

🚨 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...

Association between plausible genetic factors and weight loss from GLP1-RA and bariatric surgery - Nature Medicine

The authors found, after analyzing 10,960 individuals from 9 multiancestry biobanks across 6 countries, that genetic factors previously associated with BMI have limited impact on GLP-1 receptor agonis...

www.nature.com

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Data Bear 🏳️‍🌈 @dataandpolitics.net · Apr 12

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

Data and Politics

Data + Politics. San Francisco, Tech, Politics. With Kindness.

data-and-politics.ghost.io

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Reposted by Linda Kachuri

Chris Buckley @chrisbuckley.bsky.social · Mar 25

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)

Peter Tennant @pwgtennant.bsky.social · Mar 25

"We are losing sight of the academic mission: to think, to enquire, to design & perform new research, to innovate, to teach & communicate our findings for the purpose of societal improvement"

A painfully accurate read. That lays out the folly of the modern uni!

academic.oup.com/brain/articl...

On the responsibilities of intellectuals and the rise of bullshit jobs in universities

You may never have considered yourself to be one. Why would you? But if you’re reading this, there is more than a likelihood that you are one. If you’re a

academic.oup.com

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Maike Morrison @maikemorrison.bsky.social · Mar 14

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...

5 relative abundance plots arranged to have increasing compositional variability (variability across relative abundance samples, here vertical bars)

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Gurdeep Pandher of the Yukon @gurdeep.ca · Mar 17

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

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Randall Munroe @xkcd.com · Feb 26

RNA xkcd.com/3056

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Shai Carmi @shaicarmi.bsky.social · Nov 10

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...

Slack

join.slack.com

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The Polygenic Score Catalog @pgscatalog.bsky.social · Feb 26

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

Linda Kachuri @lindakachuri.bsky.social · Feb 11

📣 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

Nature Genetics @natgenet.nature.com · Feb 11

📢ONLINE @naturegenet.bsky.social

📰Genome-wide association study of prostate-specific antigen levels in 392,522 men identifies new loci and improves prediction across ancestry groups.

By Thomas Hoffmann, @lindakachuri.bsky.social, @johnwitte.bsky.social and co.

⬇️

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

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