New pre-print: "Systematic comparison of colocalization methods using protein quantitative trait loci" led by @hwang_seongwon at www.biorxiv.org/content/10.1.... Which method does best? Find out!

There are two complementary views of scientific advance: the "heroes" view, individual geniuses driving unique one-of-a-kind advances, and the "multiple discovery" or zeitgeist view, that the time is ripe for a discovery, and the details of who makes it first, where, and how are, well, details.(1/3)

tinyurl.com/GenGenFaculty GenGen is hiring group leaders! If you want to generate data at scale to train the next generation of AI models to make molecular biology predictive and programmable, we want to hear from you.

Let’s talk about rare variant association tests - we have a new method that helps you discover more with the same data! It’s called *FlexRV* to signal our approach: “flexibly modeling rare variant pathogenicity improves gene discovery for complex traits”. www.biorxiv.org/content/10.1...

New 🧬✂️ pre-print! We show that paired prime editing can efficiently generate large deletions — even >1 Mb — with high precision and at scale. We use this to perform the first pooled prime deletion screen across the human genome. 🔗 biorxiv.org/content/10.1... A short thread (by Juliane Weller)👇

This! Fancy web interfaces let you explore the data, but they are not the same as sharing the data. You can do both!

Genuine Q - how does blinding work for GLP-1 agonists? I took semaglutide for 5 months earlier this year and had a super obvious effect on apetite in 2-3 hours. I suspect many participants would know quite quickly on which arm of the trial they are?

I've been asked about this paper (www.nature.com/articles/s41...) enough times that I finally had to read it. The basic claim is that mRNA vaccines had huge synergistic benefit with checkpoint blockade against lung cancer melanoma. tl;dr it's glam-slop & everyone involved should be embarrassed

New: GWAS of serurm antibody levels. Interesting findings include genetically correlated traits with hard-to-find shared causal variants, and apparently genetically uncorrelated traits sharing causal variants that operate in inconsistent directions www.medrxiv.org/content/10.1...

New pre-print "Mendelian randomization in a multi-ancestry world: reflections and practical advice" led by @amymariemason.bsky.social on - arxiv.org/abs/2510.17554

🎉 Come to see @triinuvarvas.bsky.social poster nr W56 at #wcpg2025 today! Also, we are recruiting in 2026 and if you are interested in PhD or postdoc positions to work with the fantastic Estonian Biobank data then get in touch or fill out the interest form here ➡️ genomics.ut.ee/en/research-...

Serious questions for the Wellcome Trust and Wellcome Leap to answer here. Allocating $50m to microbiome pseudoscience is bad enough. But things get alarmingly murky when you notice that the Program Director is working on commercial microbiomics products.

I am very happy to finally share SAFE-LD, a method convert genotypes to an anonymised privacy-preserving version to be used to precisely compute LD. Led by @gdesanctis.bsky.social Claudia Gianbartolomei @sodbo.bsky.social and Davide bolognini. 📄: shorturl.at/BgXqq Github: shorturl.at/b49Wa

🎉 New preprint out! "Removing genetic effects on plasma proteins enhances their utility as disease biomarkers" We show that adjusting plasma proteins for genetic effects can make them stronger predictors of disease 👉 doi.org/10.1101/2025...

1/7 New BMI GWAS out! Using Estonian Biobank (n=204,747) and replication in FinnGen, we show that even in Europe you can still find region-specific biology if you zoom into population-tailored sumstats. Big thanks to co-author @kanwalbatool.bsky.social :)

We found a globally rare variant rather common in Estonia that rises BMI by 0.8 units per allele 🤯 @estbiobank.bsky.social

I'm very excited to be attending my first #ASHG25 this week! Come find me at poster board 1090F to talk about flexible and efficient eQTL mapping with quasar!

Can DNA sequence models predict mutations affecting human traits? We introduce TraitGym, a curated benchmark of causal regulatory variants for 113 Mendelian & 83 complex traits, and evaluate functional genomics and DNA language models. Joint work w/ Gökcen Eraslan and @yun-s-song.bsky.social 🧵👇

New pre-print: "PCSK9 and breast cancer survival: a Mendelian Randomization study" www.medrxiv.org/content/10.1... led by Janne Pott. Brief thread:

Excited to share my poster at #ASHG2025 (Board 9173F)! Can’t wait to see everyone next week!

New findings in @natcomms.nature.com demonstrate the impact of allelic variation on monocyte context-specific splicing. @bpfairfax.bsky.social & colleagues show that many risk polymorphisms lead to differential gene splicing. ➡️Reveals putative mechanisms of diverse disease risk alleles inc. cancer

Trans-eQTL mapping prioritizes USP18 as a negative regulator of interferon response at a #lupus risk locus www.nature.com/articles/s41... @natcomms.nature.com @unitartupress.bsky.social @kauralasoo.bsky.social

Many enhancers that drive tissue-specific gene expression are already connected to gene promoters in human pluripotent cells. In a new preprint, we share some clues about when, how, and why this happens! www.biorxiv.org/content/10.1...

This is one of the coolest studies that I have seen recently! Thanks for highlighting, @jeffreypullin.bsky.social! Genes and environment profoundly affect the human virome

Happy to share that this work together with @opentargets.org is now out at Nature Communications.

By ‘epigenetic’, you mean what? a. A non-genetic mechanism for inheritance of a trait or phenotype? b. Something involving transcription regulation? c. A modifiable cellular memory? d. Genetic influences on cell differentiation? Without specifying which, the press release is uninterpretable.

It took two more desk rejects, but happy to share that this study has now been publised in @genetics-gsa.bsky.social. In the end, we received very constructive reviews that I think really improved the clarity of the paper. doi.org/10.1093/gene...

The science is, in fact, clear. Good studies [1] consistently show a weak association between tylenol & autism. Those studies are very careful to say they can't establish whether this is causal. A huge Swedish study used a clever sibling design to address this, and showed zero causal effect [2].

don't release preprints without a Methods section don't release preprints with a Supplementary Materials section don't release preprints without data don't release preprints without code use preprint servers to share your science, not advertisements

A project many years in the process, we’re pleased to present our work on multi-ancestry meta-analysis across a boatload of traits in the UK Biobank: www.nature.com/articles/s41...

It was indeed a great conference, I really enjoyed it and would highly recommend to others! Excellent location too.

The #PragmaticClimateReset is a two part-essay calling for a reset in our approach to climate action. Part I shows why narratives trumpeting the failure of efforts to date are wrong. Part II says that, nevertheless, the climate community now needs to change its approach. 1/n

And so many other excellent speakers like @srubinacci.bsky.social @stevesphd.bsky.social @hilarycmartin.bsky.social & many more who made it an awesome conference - now called mini-ASHG (by Hilary Martin) and we loved it 🥰

Variable information across SNPs in GWAS data can cause false rejections of colocalisation which can be resolved by proportional colocalisation tests https://www.biorxiv.org/content/10.1101/2025.09.08.674910v1

So excited about this year’s Gene Forum in Tartu being kicked off now by our keynote speaker @eimearekenny.bsky.social 🤩

I am extremely honored and beyond excited to share that I have been awarded a European Research Council Starting Grant! 🚀.🧬 🧠 💻 Grateful for the support of my colleagues and mentors — and excited for the journey ahead!

Huge congrats @klehto.bsky.social on this achievement!! Her work has already enriched the @estbiobank.bsky.social and will continue to do so! 💙🖤🤍

Huge congratulations to @klehto.bsky.social from @estbiobank.bsky.social for winning half of all ERC Starting Grants coming to Estonia this year! Very well deserved!

So proud of two postdocs in the team @alextremophile.bsky.social and @ruebenadawes.bsky.social. My role here was one of 'chief cheerleader' with this work truly led by these two superstars 🤩 The key take-home: be careful when using SpliceAI precomputed scores. Why? Read Alex's 🧵to learn more. 🧬💻🩺

I'm often asked how human genetic data can be used to validate drug targets. In our new ‪@natcardiovascres.nature.com‬ paper, we provide an end-to-end framework for genetically validating IL-6 inhibition for atherosclerotic cardiovascular disease outcomes 🧵

Extremely proud to see this work led by @mihkeljesse.bsky.social now out on biorxiv!

Out now on bioRxiv! 🧬🖥️ A team from the Cowley, Bassett, and @gosiatrynka.bsky.social labs integrate pooled iPSC phenotyping, transcriptomics, and CRISPR perturbations to identify genetic drivers of molecular and cellular phenotypes in microglia www.biorxiv.org/content/10.1... #neuroskyence

Grrrr. We don't call protein phosphorylation or acteylation epiproteomics. So let's not call RNA modification epitranscriptomics. In fact, realisitically, epigenetics has so many definitions, some of them non-overlapping, that this whole epi-XXXX (genetics/genomics whatever) is just not helping us.

Good discussion & study-design recommendations in this new preprint by @mikelove.bsky.social @klmohlke.bsky.social & colleagues: Higher eQTL power reveals signals that boost GWAS colocalization 🧪🧬 www.biorxiv.org/content/10.1...

Great career opportunities in Cellular Genomics @sangerinstitute.bsky.social Big data (human in vivo + in vitro) + AI to derive biological mechanisms at scale. We are seeking a range of research expertise including spatial omics and perturbation at scale

A graph used by our minister of finance to support his claim that expensive food prices are caused (!) by too much retail space (Tallinn). I will use that example in my statistics classes on causal inference.

Under which circumstances do genomic neural networks learn motifs and their interactions?https://www.biorxiv.org/content/10.1101/2025.07.25.666754v1

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!

🧬 New @emblebi.bsky.social service beta launched: Perturbation Catalogue 🔎 Browse genetic perturbation datasets 🧠 Train models 🧬 Interpret variant function 🧭 Explore gene dependencies Search, test APIs, suggest datasets, send feedback! 🔗 www.ebi.ac.uk/perturbation... Funded by @opentargets.org

I'm excited to share work on a research direction my team has been advancing: connecting machine learning derived genetic variant embeddings to downstream tasks in human genetics. This work was led by the amazing Divyanshi Srivastava! www.biorxiv.org/content/10.1...