#エコチル調査 の成果を #NHK で報道していただきました。次は遺伝子解析研究についても取り上げてもらえるよう精進していきたいと思います！ news.web.nhk/newsweb/na/n...

Our group present two posters this afternoon at #ASHG2025!

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

Perhaps the biggest change is that we have added some practical guidelines for performing MR with proxy exposures. These are summarised on this nice figure prepared by Ida Rahu:

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

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

Excited to present our work on developing jaxQTL, a fast single-cell eQTL mapping tool that improves power and robustness in identifying sc-eQTLs using count-based models. See details in threads 🧵 www.medrxiv.org/content/10.1...

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...

Why do so many disease risk variants show no regulatory effects in GTEx and/or other standard eQTL studies? What do we mean when we say a regulatory effect is "context-specific" and how do we define the context? We explored these questions using brain organoids and oxygen stress.

🚨 Preprint update! We expanded our study on parent-of-origin effects with new findings from the MoBa cohort, now leveraging up to 265,000 individuals! Discover fresh insights into the genetic architecture of early growth! Updated preprint: www.medrxiv.org/content/10.1...

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.

📣📣 Thrilled to see this cool work finally out in the wild! "Genome-wide analyses of variance in blood cell phenotypes provide new insights into complex trait biology & prediction" www.nature.com/articles/s41... Loads of cool findings including MR for alcohol usage -> increased variance in BC traits

Nice! Environmentally responsive eQTLs are enriched for being more distal and for constrained genes relative to conventional QTLs.

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

I proudly advocate for 2002 as the year GWAS began 🙂 www.nature.com/articles/ng1...

📢 new preprint alert: So so excited to share our analysis on the impact of common and rare variants on single-cell gene expression in blood, using WGS and scRNA-seq data from nearly 2,000 individuals and 5.4m cells as part of TenK10K phase 1 🧬 www.medrxiv.org/content/10.1... 🧵👇 (1/n)

Looks like a nice resource: * Array genetic data for 80,638 Japanese children * 1,163 child health and developmental traits (e.g. food allergy, anthropometric, developmental) * Parental environmental exposures www.medrxiv.org/content/10.1...

Thrilled to share that our paper has been accepted to #ESHG2025 as an oral presentation! bsky.app/profile/nats...

📣 New from the lab: The contribution of genetic determinants of blood gene expression and splicing to molecular phenotypes and health outcomes www.nature.com/articles/s41... Check out the INTERVAL RNAseq portal www.intervalrna.org.uk Led by @alextokolyi.bsky.social & Elodie Persyn!

We wrote a review article on modelling and design of transcriptional enhancers using sequence-to-function models. From conventional machine learning methods to CNNs and using models as oracles/generative AI for synthetic enhancer design! @natrevbioeng.bsky.social www.nature.com/articles/s44...

studies of regulatory variation and GxE interactions in the heart. here's the preprint: www.biorxiv.org/content/10.1...

Modern GWAS can identify 1000s of significant hits but it can be hard to turn this into biological insight. What key cellular functions link genetic variation to disease? I'm very excited to present our new work combining associations and Perturb-seq to build interpretable causal graphs! A 🧵

📢 Thrilled to see this out, an atlas of e/sQTL across multiple tissues and diverse ancestries in 14,324 TOPMed participants: www.medrxiv.org/content/10.1... Grateful to the #TOPMed #Omics WG for giving me an opportunity to learn and contribute to this important work 🧬

I'm delighted to present our nationwide effort to identify genetic determinants of child health and development in Japan. Preprint: www.medrxiv.org/content/10.1...