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...

Very excited to share new work from my PhD on a new software package for eQTL mapping: quasar. The quasar software package is a C++ program designed to provide a flexible and efficient eQTL mapping. www.medrxiv.org/content/10.1...

🧬 The latest Open Targets Platform release includes the first genetic evidence for ESR1 in osteoporosis ESR1 is a known target for osteoporosis, with approved drugs such as Estradiol, but this is the first time we have genetic evidence for this association platform.opentargets.org/disease/EFO_...

Our paper, MR-link-2 has just been published! Offering pleiotropy robust Mendelian randomization from a single region! www.nature.com/articles/s41...

📢 (on more!) New study from our team in the Journal of Translational Medicine: Polygenic and pharmacogenomic contributions to medication dosing: a real-world longitudinal biobank study 🔗 tinyurl.com/25u3a5j7 (thread below) 👇

🎉(1/4) Excited to share that our latest paper is now published! We investigated genetic factors linked to antidepressant side effects in 13,000 individuals from the @estbiobank.bsky.social , leveraging data from questionnaires and clinical notes using NLP. www.nature.com/articles/s41...

One thing that really bothers me with the new "virtual cell" terminology is that it is currently largely focused on a very narrow definition of models that can predict effects of trans perturbations (gene dosage, drugs etc) on gene expression. 1/

AlphaGenome: advancing regulatory variant effect prediction with a unified DNA sequence model https://www.biorxiv.org/content/10.1101/2025.06.25.661532v1

🚀 AlphaGenome shows the power of FAIR and reusable data. Quality data and tools matter! When research outputs, like those from @eqtlcatalogue.bsky.social, are open and well-documented, they drive breakthroughs. 📖 Read more: bit.ly/AG_news #FAIRdata #OpenScience #AlphaGenome #Genomics

Lausanne Comp Bio Symposium 2025 (cbiosymposium.unil.ch) 🗓 Abstract deadline 30 June (𝟑 𝐝𝐚𝐲𝐬 𝐭𝐨 𝐠𝐨!!!) 🎤 Oral presentation notifications: 7 July ✅ Early Bird registration deadline: 11 July 💰 Registration fee for non-PI: 150 CHF

Preprint out today! A team led by @tobioinformatics.bsky.social and Bradley Harris in @carlanderson.bsky.social ‘s lab has created the largest single-cell atlas of IBD tissues to date www.medrxiv.org/content/10.1...

Great to see @eqtlcatalogue.bsky.social data strongly represented in variant interpretation benchmarks in the AlphaMissense preprint (expression QTLs, splicing QTLs and polyadenylation QTLs). Clean, uniformly processed data resources matter! @elixirestonia.bsky.social

Excited to launch our AlphaGenome API goo.gle/3ZPUeFX along with the preprint goo.gle/45AkUyc describing and evaluating our latest DNA sequence model powering the API. Looking forward to seeing how scientists use it! @googledeepmind

This a really exciting leap forward for genomic sequence to activity gene regulation models. It is a genuine improvement over pretty much all SOTA models spanning a wide range of regulatory, transcriptional and post-transcriptional processes. 1/

Job alert ‼️ @thomasdwkim.bsky.social and I are recruiting a postdoc in single-cell genomics via the NORPOD program of the @nordicembl.bsky.social. Collaboration between @fimm-uh.bsky.social and @dandrite.bsky.social on multimodal data integration in neurodevelopment. jobs.helsinki.fi/job/Helsinki...

I wrote a short piece on how becoming an IgA Nephropathy patient has changed my perspective on biomedical research, developing an appreciation for the challenges in data interpretability & availability and the importance of patient engagement www.nature.com/articles/s41...

Testing causal links between all imaginable phenotypes with MR in UKB is easy! But inferring causality still requires that the MR assumptions are valid (notably: genetic instruments must act on outcome only via exposure) See also from @mendelrandom.bsky.social pmc.ncbi.nlm.nih.gov/articles/PMC...

This makes no sense to me. How does genetically predicted walking speed relate to biological aging (here as telomere length( except as some sort of biomarker of overall health? www.nature.com/articles/s42...

Two ERC Advanced Grants to Estonia this year! Congratulations to @tedersoo.bsky.social and Ülo Niinemets!

I wrote a review of a recent paper on false discovery and multiple testing correction. liorpachter.wordpress.com/2025/06/16/r...

Delighted that the 'flagship' manuscript on our @genesandhealth.bsky.social 44k exomes (British Pakistanis & Bangladeshis) is now preprinted. Great academic-industry collaboration. Lots of new associations (mostly additive, a few recessive) and new insights into homoz knockouts & drug discovery.

The difficult part of the work is not performing the analysis, but rather finding and justifying that the genetic variants inform us in a specific way about the effects of ketone metabolism.

Can you use variant level information in colocalisation? Yes! Will it improve accuracy on average? Yes! Will it make a substantial difference? Not using any information we could think of. Very nice work by @jeffreypullin.bsky.social to adapt coloc to enable these questions to be addressed.

Extremely proud of @rjhfmstr.bsky.social for his @eshg.bsky.social Early Career Award received yesterday in Milan. A truly deserved recognition of his outstanding presentation and ingenious research on parent-of-origin effect inference! #ESHG2025

Justified standing ovation for Nobel laureate Katalin Karikó at #ESHG2025 She shared her adventurous scientific life and life lessons like "If you want to do something, you find a way. If not, you find excuses", and reminded us scientists to thank our near and dear because "they suffer a little bit"

Slides are here: www.mendelianrandomization.com/images/burge.... If you are interested in learning more, we have online courses on Mendelian randomization and Genetics in Drug Development (www.mendelianrandomization.com/index.php/on...) with continuous enrolment: please sign up!

@kauralasoo.bsky.social starts his plenary talk #eshg2025 with their heroic effort of integrating eQTL studies (eQTL Catalogue, v7 42 studies, www.ebi.ac.uk/eqtl/Data_ac...). From personal experiences, this is an amazing resource!

A very pleasant poster session, lots of friendly people came to talk about our work. I took @jeffbarrett.eu's advice to ask everyone who visited my poster what they work on, to get some actual convos rather than spending an hour repeating my spiel over and over #ESHG2025

Amazing population-level single cell RNAseq showcases at #eshg2025 -TenK10K (Powell, Australia) and 6.5K donors (Soranzo,UK). lots of interesting findings:cell-type specific eQTLs, disease-associated cell compositions, eGenes enrichment for drug developments, etc. Crucially - they're *open source*!