kauralasoo.bsky.social - Profile | ThreadSky | a Reddit-style client for Bluesky

Estonia hands down

submitted 3 days ago • 1 comment

Looking forward to attending #GeneForum2025 in Tartu, Estonia Sept 9-10 and learning more about @estbiobank.bsky.social. Thanks @kauralasoo.bsky.social for the invitation!

submitted 12 days ago • 0 comments

Our new contribution to the quest to find causal GWAS genes! Sam Ghatan from my lab at @nygenome.org led a systematic comparison of eQTLs and CRISPRi+scRNA-seq screens. TL;DR: they provide highly complementary insights, with ortogonal pros and cons. 🧵👇 www.biorxiv.org/content/10.1...

submitted 14 days ago • 1 comment

Come and join us! We’re hiring a new Group Leader in Generative Biology at the @sangerinstitute.bsky.social Building AI models or the data to train them? Core funding of >$130M a year for a faculty of ~30. www.nature.com/naturecareer... acrobat.adobe.com/id/urn:aaid:... pls RT!

submitted 14 days ago • 1 comment

New preprint! My (now former) postdoc @kvastad.bsky.social led this integration of GWAS and spatial transcriptomics (ST) data to identify tissue structures with enrichment of disease-implicated genes = likely causal drivers of disease biology. www.biorxiv.org/content/10.1...

submitted 15 days ago • 4 comments

Noice! Extraction from the SRA's horrible format is one of the main reasons that I (and many others) generally prefer the ENA. This may tilt the scales. Excited to try this out. Also, Noam is an absolute beast here, knocking out exciting tools one after the other!

submitted 20 days ago • 3 comments

Very excited to give a virtual talk as part of the @eshg.bsky.social webinar series tomorrow at 4pm (CEST). If you want to listen in, register here: wma.eventsair.com/eshg-webinar... I will talk about all the exciting things we can learn from GWAS summary statistics...

submitted 21 days ago • 0 comments

This is a lovely thread of self-introductions from members of the compbio/genomics crowd on BlueSky. It feels a bit more friendly and warm than a starter pack

submitted 24 days ago • 0 comments

Reads and resources that caught my eye on genetics, omics, and deep phenotyping this week 🧬 1⃣ A new multimorbidity framework for disease risk prediction [1/8]🧵

submitted 23 days ago • 1 comment

Very excited to share our preprint led by M. Levin @skoyama.bsky.social J. Woerner & with S. Damrauer assessing genome-wide pleiotropy of >1,000 clinical traits across ~1.7M individuals with nearly 30K locus-trait associations! www.medrxiv.org/content/10.1... @medrxivpreprint.bsky.social

submitted 27 days ago • 3 comments

Single task, lightweight, short-context bp res. profile models often perform on par or outperform current large, multi task, long context models on counterfactual prediction. Much to do to improve. Bonus: robust, efficient interpretation of syntax Great collab with @jengreitz.bsky.social lab.

submitted 32 days ago • 0 comments

Regulatory sequence ML has been widely applied to predict substitution SNP effects (to promising results!), but most teams have shied away from indels. www.biorxiv.org/content/10.1...

submitted 34 days ago • 1 comment

📢🌎 A big step forward for inclusive genomics Announcing a major collaboration between @sangerinstitute.bsky.social @pacbio.bsky.social to map the hidden language of genes in the immune system at single-cell resolution. 👇Why this matters, especially for underrepresented populations:

submitted 35 days ago • 1 comment

A really nice thread (as always from Eric) demonstrating the utility of the new @opentargets.org platform with a focus on HbA1c

submitted 37 days ago • 0 comments

The most famous heuristic in mapping gwas snps to genes is "it's usually the closest gene". But only slightly less well-known is this: consider the colocalized phenotypes. That is, a genetic variant seldom disrupts exactly one phenotype. What else does tugging on that thread do?

submitted 37 days ago • 3 comments

Really nice work and post by @kauralasoo.bsky.social. the note about MR is very valid - it seems unlikely that nearly every measured metabolite is on the causal pathway for T2D/CAD - and indeed Kaur's more focused "curated instrument" cis variants gives a null result for branch chain amino acids

submitted 37 days ago • 0 comments

We've just posted an updated version of our metabolic trait GWAS preprint. The GWAS summary statistics are still the same as in October, but we've included several new follow-up analyses and completely rewritten the manuscript! See thread below for some highlights. www.medrxiv.org/content/10.1...

submitted 38 days ago • 3 comments

We have known for a long time that CRISPR works - gene editing - “traditional” indel inducing, base editing and funkier types. We have a set of traits in a set of organisms where we know causal genes or alleles, and the consequences of knockouts.

submitted 43 days ago • 3 comments

Excited to share our recently published overview of the @estbiobank.bsky.social 🧬 We highlight the unique features of the biobank and the conducted scientific research it has enabled, including the many recall studies that have been carried out over the years! www.nature.com/articles/s41...

submitted 43 days ago • 1 comment

💡Can we use real world drug purchase data to study the genetics of medication dosing? We explored this by analyzing 20 years of digital drug dispensing data linked to the @ESTbiobank which hosts 212,000 genotyped participants. 🧵 📄 doi.org/10.1101/2025...

submitted 46 days ago • 1 comment

𝐒𝐞𝐞𝐤𝐢𝐧𝐠 𝐚 𝐡𝐨𝐬𝐭 𝐢𝐧𝐬𝐭𝐢𝐭𝐮𝐭𝐢𝐨𝐧 𝐟𝐨𝐫 𝐲𝐨𝐮𝐫 𝐌𝐒𝐂𝐀 𝐏𝐨𝐬𝐭𝐝𝐨𝐜𝐭𝐨𝐫𝐚𝐥 𝐅𝐞𝐥𝐥𝐨𝐰𝐬𝐡𝐢𝐩? Find your research group and join us at the University of Tartu! Check our list of supervisors, application details, and everything else you need to know ut.ee/en/content/postdoctoral-research-university-tartu

submitted 53 days ago • 0 comments

For those who don't know it, I really think the fivex #eqtl/ #sqtl browser is one of the most useful and intuitive tools when doing detective work on a new #gwas hit. fivex.sph.umich.edu Much thanks to all its creators & @kauralasoo.bsky.social & team for the upstream work on the eqtl catalogue.

submitted 53 days ago • 1 comment

Big thanks to the community for the great feedback we are receiving on the spring @opentargets.org Platform release. There are many positive and new ideas for improving our scientific interpretation and products. Feedback is a critical aspect of an open project's lifecycle. Please keep it coming 🧬🖥️

submitted 53 days ago • 0 comments

Anyone who works in ML/AI knows it is doomed to failure without knowing a thing about the domain. Design for useful predictions/behavior cannot happen in a vacuum, and the objective isn't a fixed point either. There's too much nonsense from deep thinkers about "replacing jobs"

submitted 54 days ago • 0 comments

Join us in Lausanne for a newly launched Computational Biology Symposium with a stellar lineup of speakers! Registration and abstract submission open: share your original research work in a friendly atmosphere!

submitted 62 days ago • 0 comments

Le Monde reporting that a French scientist traveling to Houston to attend a conference was denied entry to US after a search of his phone & computer revealed messages critical of Trump's science cuts, "which [says CPB] conveyed hatred of Trump & could be qualified as terrorism". Computer confiscated

submitted 62 days ago • 614 comments