Congratulations!! Exciting news and super well deserved! 🥳🥳🥳

Woah just discovered this formatmypaper.com

I finally made (it on) my first cover 🤣 🥳!! Congratulations to @hggadvances.bsky.social, and all my fellow co-editors, for establishing a great genomics journal. And to all authors: if your manuscript still needs a home, consider submitting with us. We would be delighted to handle your paper 🫶 💪.

Very exciting preprint by @axel-schmidt.bsky.social, @kuludwig.bsky.social and team! Check out Kerstin's thread for overview

🔔Paper alert! Extremely excited to share a preprint from our lab! Spearheaded by @axel-schmidt.bsky.social, a super talented medical & computational geneticist, we studied latent Epstein-Barr virus (EBV) infection at population-scale. Interested in how this works & what we found? Read along! 👇

🚨 Most variant screens measure growth or abundance. What do they miss? That variants impact a spectrum of protein and cellular phenotypes. Variant in situ sequencing (VIS-seq) finds what’s missing: image cells 🔬 first, decode later, revealing multi-scale phenotypes for thousands of variants.👇 1/9

🚀 Thrilled to share our new review on how structural variants reshape 3D genome architecture and cause disease! 🧬🔀 Out now in Nature Reviews Genetics: www.nature.com/articles/s41... #3D-Genome #StructuralVariants #uksh

So exciting - congratulations!!! 💐🎊👍

Congratulations, this sounds awesome! Looking forward to get this data presented live when you visit us in Bonn forward our Summer School 🎊🤣 @immunosens.bsky.social

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"

Congratulations to everyone involved! 🎊💐

Hurray! ImmunoSensation will go on! 🥳 The @dfg.de just announced that ImmunoSensation3, focussing on Immune Diversity will be funded! Let us #celebrate 7 more years of #immunology in #Bonn 🎉 www.immunosensation.de/news/immunos...

🧬 Today! Prof. Rami Abou Jamra (Uni Leipzig) speaks on "Genome sequencing for rare disease diagnostics" at the GHGA lecture series Advances in Data-Driven Biomedicine. Don’t miss it! 📅 May 21 | ⏰ 4PM 🔗 Register: dkfz-de.zoom.us/meeting/regi... #Genomics #RareDiseases #GHGA

@nickywhiffin.bsky.social at #VariantEffect25

Good morning #VariantEffect25! Kicking things off we have Mafalda Dias, @bennibolo.bsky.social @muffley.bsky.social welcoming us to this 8th annual symposium. We have 250 in-person participants, 60 people online, from 20 countries!

Diving into the 1st session of #VariantEffect25 we have David Adams @davidjadams.bsky.social from the Wellcome Sanger Institute presenting “Decoding Cancer: Clinical and Functional Roles of Nucleotide Variants in Cancer Genes”

Can AI-designed binders degrade, aggregate, stain and enrich endogenous proteins in human cells? Check out our new preprint! www.biorxiv.org/content/10.1...

📢 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)

My story: I’m a single father and cancer researcher whose wife died of a rare cancer. Science and biomedical research is personal to me. Here is my op-ed in my hometown newspaper. Pls fwd. www.vindy.com/opinion/edit...

Key reads from last week on human genetics, multiomics, and precision medicine 🧵 1⃣New e/sQTL resource from TOPMed In 14,324 whole blood & tissue samples the study detects cis- and trans-e/sQTLs and colocalizes them with 10,000 GWAS signals for 164 traits. 🔗 www.medrxiv.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 🧵

Decoding cilia signaling and function by the one and only @wachtenlab.bsky.social Thanks for delivering a fantastic #FEBS national lecture at the Norwegian bioscience society winter meeting.

Friends and colleagues, I’ve written a book on effective functional genomics study design, which will be available on Amazon in a couple of weeks. Sharing the TOC to spark interest. I hope students and those planning genomics experiments will find it useful! I’ll share updates soon

Now available as preprint: The ENCODE 4 expanded registry of regulatory elements - 2.35M 🧍 human cCREs - 927k 🐭 mouse cCREs www.biorxiv.org/content/10.1... Led by @moorejille.bsky.social, this preprint summarizes data and analyses generated by hundreds of contributors across ENCODE 4

Happy to share our newest work on #covid19 #hostgenetics ! An analysis of >1000 whole genomes with @kuludwig.bsky.social and Axel Schmidt at University of Bonn and Uniklinik Bonn, the DeCOI consortium and many colleagues from around Germany & beyond. #plospathogens journals.plos.org/plospathogen...

Our mentor Casey Brown, apart from being an extraordinary scientist, was a brilliant teacher who loved everything genetics. In his honor, some of the world's leading experts came together to create the 'Casey Brown Lecture Series' on human genetics 1/ shorturl.at/eCm7S

Vaccination significantly reduced #LongCovid in children and adolescents among ~300,000 kids and teens www.thelancet.com/journals/ecl...

Excited to share our latest preprint on scE2G – a new model to link enhancers to target genes using single-cell data – with state-of-the-art performance across multiple perturbation benchmarks. biorxiv.org/cgi/content/... Read more below! 1/12

Very interesting work by Tade Souaiaia et al on the non-polygenic architecture of the extremes of complex traits. For many traits, polygenic scores show "regression to the mean" around the tails, as extreme traits are mostly due to rare alleles. www.biorxiv.org/content/10.1...

Non-native English speakers need 50% more time to write a paper When they do, they face a 2.5 times higher chance of being rejected because of language journals.plos.org/plosbiology/...

‘A place of joy’: why scientists are joining the rush to Bluesky For me, it certainly feels good to be here! @natureportfolio.bsky.social @bsky.app www.nature.com/articles/d41...

Interested in Structural Variants? Join for this 3-day course with @sedlazeck.bsky.social and Luis Paulin in December (2-4): physalia-courses.org/courses-work... We’ll cover tools and workflows for SVs using @illumina @oxfordnanopore.bsky.social and @pacbio.bsky.social data!

Congratulations to @nickywhiffin.bsky.social on being awarded the Balfour Lecturer! Her innovative contributions on the role of genetic variants in rare diseases are shaping the future of research and discovery. We look forward to her inspiring lecture! genetics.org.uk/medals-and-p...

Fabulous work with colleagues in Burundi, who took up Mpox sequencing to understand the situation AND are willing to share pre-publication, shows the expanding tree, and evidence for several introductions not taking off. In progress virological.org/t/preliminar...

COVID booster study: 58% vaccine effectiveness (95% CI 50-66%) vs hospitalization & 75% VE (95% CI 71-80%) vs death over 24 wks - impressive in a population already vaccinated 4x previously! Matched cohort study (target trial emulation) in elderly Scandinavian population from 2023-2024 season.

The Long-read sequencing Special Issue is now LIVE! Guest-edited by @ahoischen.bsky.social , @sedlazeck.bsky.social, and @anaconesa.bsky.social.

A big day of output for the Human Cell Atlas, a global collaborative project with 100 countries to understand our ~37 trillion cells A Wikipedia of our cells, a "remarkable achievement" nature.com/articles/d41... nature.com/immersive/d4...

My group's work dissecting the contribution of common variants to rare neurodevelopmental conditions is now out at nature.com/articles/s41..., led by co-first authors Qinqin Huang (not yet on blue sky) and @emiliewigdor.bsky.social . See below for Emilie's tweetorial.

We strongly suggest that academic publishers and other platforms that host research rapidly implement a Share to Bluesky button for their articles. Here's how: docs.bsky.app/docs/advance... #AcademicSky #HigherEd #Altmetrics

The preliminary #eshg25 program is online. Stellar line-up of invited speakers - full breadth of our amazing field. Grateful to a wonderful SPC @eshg that made this possible. See you all in Milan next year! 2025.eshg.org/programme-at...

Check out the new and fully GDPR compliant Helmholtz Munich genotype imputation server! rdcu.be/d0h3y Server webpage: imputationserver.helmholtz-munich.de/index.html (don't think Ele Zeggini has joined bluesky yet but this is basically a cross-post from her twitter)

Genau das 👇. Jede:r Einzelne ein Held. Größter Respekt vor diesem Mut! Zeigen wir weiterhin, dass sie nicht allein sind 💪. #WirSindMehr.

Made it to the other side 🥳 - thanks #WomenInSTEM for the invite 👩‍🔬. Trying to re-grow and extend my science-friend- community. Let's go 😊💪!