Not being able to access the @ukbiobank.ac.uk is becoming a significant issue for a PhD student in our group and I can only imagine this is mirrored in many other places. It would be fantastic to at least have a timeline we could work with.

I might be biased, but would strongly recommend! Go and checkout how you can use DeepRVAT in your research + some teasers on what v2 will hold at #ESHG 🧬🔎

Brian Clarke@brianfclarke.bsky.social · 2mo ago

#ESHG attendees: Hope to see you at my presentation about our Nature Genetics paper on deep learning for rare variant genetics. Sunday 8:30-9:15am in session E02. It's an educational session for non-experts in AI, so I'll start from the basics and explain the principles behind the model in detail.

Hot off the press! Jun Cheng presents AlphaGenome at the Kipoi seminar this Wednesday. Don’t miss it.

Kipoi@kipoizoo.bsky.social · 7mo ago

Join us for our next Kipoi Seminar with Jun Cheng, DeepMind 👉 AlphaGenome: advancing regulatory variant effect prediction with a unified DNA sequence model 📅 Wed Feb 4, 5:30pm CET 🧬 kipoi.org/seminar 🦋 @kipoizoo.bsky.social

How many high-impact developmental variants are we missing by relying only on adult splicing annotations? We address this in our preprint “Aberrant splicing prediction during human organ development”: www.biorxiv.org/content/10.1...

Staying active during this time #ASHG25 is important🏋️‍♀️, so go and check out Shubhankar’s poster! Really happy to be part of this project!

Shubhankar Londhe@slondhe.bsky.social · 10mo ago

Excited to share UKBBGym at #ASHG25, a new benchmark for variant effect predictors using WGS, proteomics and phenotypes from 500K UKBiobank participants. Stop by for insights on the impact of non-coding variants and how computational scores stack up against exp assays. Poster 5022W, Wed 2:30-4:30.

DeepRVATv2 is in the making! We learn from >60M WGS variants, >90 features, and 500k UKB participants to predict gene impairment beyond coding regions and showcase how DeepRVAT can advance rare disease diagnostics and gene constraint measurement. Learn more at my Poster 5058W, Wed 2:30pm #ASHG25

This was such a special event! So grateful that I could be part of it, learning about great science, making truly unique connections with amazing fellow students and tutors, and even learning how to punt 🛶 Huge thanks to everyone who helped bring this unique school back to life!

Andrea Ganna@andganna.bsky.social · last yr.

Leena Peltonen School of Human Genetics in full-swing! @gosiatrynka.bsky.social @dgmacarthur.bsky.social @bpasaniuc.bsky.social @tuuliel.bsky.social @hilarycmartin.bsky.social @sashagusevposts.bsky.social @zkutalik.bsky.social @mashaals.bsky.social @alemedinarivera.bsky.social

@thbec.bsky.social is going to share preliminary results on Meta-DeepRVAT, a new approach for deep learning based meta-analysis improving the power of rare variant association studies using population scale external control cohorts. #MLCSB 📅 July 21 |📍 Poster A-312

Job alert: Join us for a postdoc in AI in genetics at @EMBL Heidelberg! Great collaboration with @Adrian Cortes @GSK, aiming to develop new tools to elucidate genetic effects using population-scale cohorts and single-cell readouts. Please share! embl.wd103.myworkdayjobs.com/de-DE/EMBL/d...

Postdoctoral Researcher in Computational Genetics

The research group of Oliver Stegle looks for a postdoctoral researcher to join a collaborative project with GSK with the goal to apply computational methods to investigate the effects of rare variant...

embl.wd103.myworkdayjobs.com

Update of our protein outlier caller PROTRIDER. We now handle missing values, a widespread issue for mass spec where missing values are not a random -- and this improves outlier detection on non-missing data! Thumbs up to Daniela and George for the great work. doi.org/10.1101/2025...

Gagneur lab@gagneurlab.bsky.social · 2y ago

Excited to share that PROTRIDER, our method to call outliers on mass spectrometry-based proteomics data, is out now!! #proteomics #massspectrometry #raredisease doi.org/10.1101/2025...

Join us for our next Kipoi Seminar with Katherine Pollard, Gladstone Institute of Data Science & Biotechnology,UCSF, Biohub @gladstoneinst.bsky.social @czbiohub.bsky.social 👉Human variant interpretation with sequence-to-activity models 📅Wed June 4,5:30pm CET🧬 kipoi.org/seminar/🦋@kipoizoo.bsky.social

Excited to be back at #eshg2025! Come by my poster today to check out fresh results on how rare high impact variants influence gene expression across immune cells—analyzed in 5,000 UK Biobank participants

Gagneur lab@gagneurlab.bsky.social · last yr.

Eva Holtkamp @evaholtkamp.bsky.social shares insights on rare variant effects on cell type-specific gene expression in immune cells across 4,978 UK Biobank participants - catch poster P18.066.A (Sunday, 1pm)

Join us for our next Kipoi Seminar with Laura Martens, Gagneur lab, TUM @lauradmartens.bsky.social @gagneurlab.bsky.social @tum.de 🐕scooby: Modeling multi-modal genomic profiles from DNA sequence at single-cell resolution 📅Wed May 7, 5:30pm CET 🧬https://kipoi.org/seminar/ 🦋kipoizoo.bsky

The next selection round for the DKFZ International PhD Program has started. Please consider applying to this really excellent program! I'll be proposing projects, as will many other outstanding PIs.

Hello #probgen25! We have 3 contribs this year @lauradmartens.bsky.social starts today, poster 87, presenting scooby modeling scRNA-seq and sc-ATAC-seq profiles from DNA and applications. Shhh... don't tell it further... rumour says there are awesome cute scooby stickers to win ;-)

Join us for our next Kipoi Seminar with with Alexander Sasse @lxsasse.bsky.social @zmbh.uni-heidelberg.de 👉Advanced training strategies for genomic sequence-to-function models 📅 Wed March 5, 5:30pm CET 🧬 kipoi.org/seminar/ 🦋 @kipoizoo.bsky.social

Join us for our next Kipoi Seminar with with Pedro Tomaz da Silva @pedrotomazdasilva.bsky.social @gagneurlab.bsky.social @TU_Muenchen! 👉Nucleotide dependency analysis of DNA language models reveals genomic functional elements 📅Wed Feb 5, 5:30pm CET 🧬https://kipoi.org/seminar/ 🦋kipoizoo.bsky

Hey reg genomics folks, here is our little x-mas present: Flashzoi. Borzoi. Just as good. 3x faster. Thumbs up to @johahi.bsky.social for the great initiative, conception & implementation. Big thanks to Johannes Linder, David Kelley and colleagues to have created Borzoi and shared it freely.

bioRxiv Genomics@biorxiv-genomic.bsky.social · 2y ago

Flashzoi: An enhanced Borzoi model for accelerated genomic analysis https://www.biorxiv.org/content/10.1101/2024.12.18.629121v1

Flashzoi: An enhanced Borzoi model for accelerated genomic analysis https://www.biorxiv.org/content/10.1101/2024.12.18.629121v1