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Johannes Hingerl

@johahi.bsky.social
108 followers 123 following 7 posts

ML for regulatory genomics. PhD student @ Gagneurlab johahi.github.io

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Reposted by Johannes Hingerl
Kipoi @kipoizoo.bsky.social · 25/06/2026
Join us for our next Kipoi Seminar with Ruoyu Wang, Jian Zhou Lab, University of Chicago no recording! 👉 Title: Sequence-based regulatory code for heterogeneous and dynamic chromatin 🗓️ Wed Jul 1, 5:30pm CEST 🧬http://kipoi.org/seminar 🦋@kipoizoo.bsky.social
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Kipoi @kipoizoo.bsky.social · 30/05/2026
Join us for our next Kipoi Seminar with Zeming Lin, Biohub @biohub.org 👉 Title: Protein Language Models 🗓️ Wed May 6, 5:30pm CET 🍃 kipoi.org/seminar 🦋 @kipoizoo.bsky.social
kipoi.org
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bioRxiv Genomics @biorxiv-genomic.bsky.social · 19/03/2026
Modeling cis-regulatory variation in human brain enhancers across a large Parkinson's Disease cohort www.biorxiv.org/content/10.64898/20…
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nilswagner.bsky.social @nilswagner.bsky.social · 26/01/2026
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...
biorxiv.org
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Kipoi @kipoizoo.bsky.social · 23/01/2026
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
kipoi.org
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Surag Nair @suragnair.bsky.social · 10/11/2025
Excited to share Nona: a unifying multimodal masking framework for functional genomics. Models for DNA have evolved along separate paths: sequence-to-function (AlphaGenome), language models (Evo2), and generative models (DDSM). Can these be unified under a single paradigm? 1/15
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Nature Methods @natmethods.nature.com · 16/10/2025
gReLU advances deep learning based modeling and analysis of DNA sequences with comprehensive toolsets and versatile applications. @avantikalal.bsky.social @gokcen.bsky.social www.nature.com/articles/s41...
nature.com
gReLU: a comprehensive framework for DNA sequence modeling and design - Nature Methods
gReLU advances deep-learning-based modeling and analysis of DNA sequences with comprehensive toolsets and versatile applications.
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Shubhankar Londhe @slondhe.bsky.social · 14/10/2025
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.
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Johannes Hingerl @johahi.bsky.social · 13/10/2025
Happy to share that Flashzoi is now published! We enhanced Borzoi with RoPE & FlashAttention for >3x faster training/inference & 2.4x reduction in memory usage. This brings large-scale genomic analysis and fine-tuning within reach of academic budgets. 📄: doi.org/10.1093/bioi...
doi.org
Flashzoi: an enhanced Borzoi for accelerated genomic analysis
AbstractMotivation. Accurately predicting how DNA sequence drives gene regulation and how genetic variants alter gene expression is a central challenge in
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Stein Aerts @steinaerts.bsky.social · 24/09/2025
The Biodiversity Cell Atlas white paper is out! A bold vision to map the diversity and evolution of cell types across the tree of life 🌍
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Yun S. Song @yun-s-song.bsky.social · 22/09/2025
We are excited to share GPN-Star, a cost-effective, biologically grounded genomic language modeling framework that achieves state-of-the-art performance across a wide range of variant effect prediction tasks relevant to human genetics. www.biorxiv.org/content/10.1... (1/n)
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Jesse Engreitz @jengreitz.bsky.social · 18/09/2025
Excited for a major milestone in our efforts to map enhancers and interpret variants in the human genome: The E2G Portal! e2g.stanford.edu This collates our predictions of enhancer-gene regulatory interactions across >1,600 cell types and tissues. Uses cases 👇 1/
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Jacob Schreiber @jmschreiber91.bsky.social · 27/08/2025
In the genomics community, we have focused pretty heavily on achieving state-of-the-art predictive performance. While undoubtedly important, how we *use* these models after training is potentially even more important. tangermeme v1.0.0 is out now. Hope you find it useful!
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bioRxiv Bioinfo @biorxiv-bioinfo.bsky.social · 12/08/2025
tangermeme: A toolkit for understanding cis-regulatory logic using deep learning models www.biorxiv.org/content/10.1101/202…
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Gagneur lab @gagneurlab.bsky.social · 05/06/2025
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...
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Gagneur lab @gagneurlab.bsky.social · 24/05/2025
This year, the lab has a great representation at the #eshg2025: 3 talks, 2 posters, 1 spin-off stand ! 1/n
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Lucía Barbadilla Martínez @luciabarmar.bsky.social · 14/05/2025
Our review "Predicting gene expression from DNA sequence using deep learning models" is finally out! 🤗
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Jacob Schreiber @jmschreiber91.bsky.social · 12/05/2025
a fundamental challenge in my field is that staring at long-running jobs, waiting for them to finish, is not seen as productive
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Kipoi @kipoizoo.bsky.social · 02/05/2025
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
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Gagneur lab @gagneurlab.bsky.social · 05/05/2025
Many of you enjoy our sequence-based model of single-cell RNA and ATAC data scooby... Don't miss Laura Marten's talk at the upcoming Kipoi seminar about it this Wed! @lauradmartens.bsky.social @johahi.bsky.social @kipoizoo.bsky.social Last preprint version: www.biorxiv.org/content/10.1...
biorxiv.org
scooby: Modeling multi-modal genomic profiles from DNA sequence at single-cell resolution
Understanding how regulatory DNA elements shape gene expression across individual cells is a fundamental challenge in genomics. Joint RNA-seq and epigenomic profiling provides opportunities to build u...
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Jacob Schreiber @jmschreiber91.bsky.social · 24/04/2025
Our preprint on designing and editing cis-regulatory elements using Ledidi is out! Ledidi turns *any* ML model (or set of models) into a designer of edits to DNA sequences that induce desired characteristics. Preprint: www.biorxiv.org/content/10.1... GitHub: github.com/jmschrei/led...
biorxiv.org
Programmatic design and editing of cis-regulatory elements
The development of modern genome editing tools has enabled researchers to make such edits with high precision but has left unsolved the problem of designing these edits. As a solution, we propose Ledi...
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Stein Aerts @steinaerts.bsky.social · 04/04/2025
Very proud of two new preprints from the lab: 1) CREsted: to train sequence-to-function deep learning models on scATAC-seq atlases, and use them to decipher enhancer logic and design synthetic enhancers. This has been a wonderful lab-wide collaborative effort. www.biorxiv.org/content/10.1...
biorxiv.org
CREsted: modeling genomic and synthetic cell type-specific enhancers across tissues and species
Sequence-based deep learning models have become the state of the art for the analysis of the genomic regulatory code. Particularly for transcriptional enhancers, deep learning models excel at decipher...
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Niklas Kempynck @niklaskemp.bsky.social · 03/04/2025
We released our preprint on the CREsted package. CREsted allows for complete modeling of cell type-specific enhancer codes from scATAC-seq data. We demonstrate CREsted’s robust functionality in various species and tissues, and in vivo validate our findings: www.biorxiv.org/content/10.1...
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bioRxiv Genomics @biorxiv-genomic.bsky.social · 03/04/2025
CREsted: modeling genomic and synthetic cell type-specific enhancers across tissues and species www.biorxiv.org/content/10.1101/202…
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Gagneur lab @gagneurlab.bsky.social · 07/03/2025
In today's poster session #probgen25. To the pop gen folks, interesting observation: The influence of a nucleotide on reconstructing others, rather than its own reconstructability, is a better predictor of function. This metric makes DNA LMs beat conservation in several benchmarks.
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Gagneur lab @gagneurlab.bsky.social · 06/03/2025
and @pedrotomazdasilva.bsky.social will present tomorrow at #probgen25 poster 128 on dependency analysis of DNA language models. Come and see what functional relationships DNA LMs capture, from regulatory code to RNA structures. Preprint: doi.org/10.1101/2024...
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Gagneur lab @gagneurlab.bsky.social · 06/03/2025
Tomorrow Johannes Hingerl @johahi.bsky.social gives a talk on scooby at #probgen25. Enjoy learning in the legendary CSHL auditorium how to model RNA-seq and ATAC-seq profiles in individual cells from half a megabase of genomic sequence. Preprint: doi.org/10.1101/2024...
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Gagneur lab @gagneurlab.bsky.social · 06/03/2025
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 ;-)
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Kipoi @kipoizoo.bsky.social · 01/03/2025
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
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Gagneur lab @gagneurlab.bsky.social · 19/02/2025
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...
doi.org
PROTRIDER: Protein abundance outlier detection from mass spectrometry-based proteomics data with a conditional autoencoder
Motivation Detection of gene regulatory aberrations enhances our ability to interpret the impact of inherited and acquired genetic variation for rare disease diagnostics and tumor characterization. Wh...
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Niklas Kempynck @niklaskemp.bsky.social · 14/02/2025
Just very happy to have our paper out today! A big thanks to all our co-authors, and to Nikolai and @steinaerts.bsky.social for the teamwork over the past years. If you are interested in using our models for cross-species enhancer studies, check out crested.readthedocs.io/en/stable/mo... 🙂
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Gonzalo Benegas @gonzalobenegas.bsky.social · 13/02/2025
Can DNA sequence models predict mutations affecting human traits? We introduce TraitGym, a curated benchmark of causal regulatory variants for 113 Mendelian & 83 complex traits, and evaluate functional genomics and DNA language models. Joint work w/ Gökcen Eraslan and @yun-s-song.bsky.social 🧵👇
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Kipoi @kipoizoo.bsky.social · 03/02/2025
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
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Munich RNA Club @munichrna.bsky.social · 29/01/2025
Join us in our next #MunichRNA19F! 📍 @mpibiochem.bsky.social 📅 19/02/2025 We will hear amazing talks from Shuyao Sha (@kusterlab.bsky.social), @lauradmartens.bsky.social (@gagneurlab.bsky.social), @michaelkugler.bsky.social (@hopfnerlab.bsky.social), Marc Schmitt-Supprian. Don't miss it! 🧬😀
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Yan Hu @yanhu97.bsky.social · 23/01/2025
Super excited to share our new study from the @jbuenrostro.bsky.social Lab in @nature.com! We developed a computational method for tracking transcription factor and nucleosome binding using single-cell ATAC-seq and deep learning. Paper: www.nature.com/articles/s41...
nature.com
Multiscale footprints reveal the organization of cis-regulatory elements - Nature
We developed PRINT, a computational method that identifies footprints of DNA–protein interactions from bulk and single-cell chromatin accessibility data across multiple scales of protein size.
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Vikram Agarwal @vagar.bsky.social · 09/01/2025
Super excited to announce our latest flagship model Borzoi: major props to Johannes & David Kelley et al for advancing it. It's been a long journey from our prior Enformer model into this one. A few innovations: i) longer DNA context, ii) adaptation to predict RNA-seq abundance and splice isoforms,
nature.com
Predicting RNA-seq coverage from DNA sequence as a unifying model of gene regulation - Nature Genetics
Borzoi adapts the Enformer sequence-to-expression model to directly predict RNA-seq coverage, enabling the in-silico analysis of variant effects across multiple layers of gene regulation.
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Anshul Kundaje @anshulkundaje.bsky.social · 08/01/2025
Congrats to Johannes Linder, David Kelley et al. on the journal publication of Borzoi - a long context sequence models of RNA-seq coverage profiles with many nice applications for transcriptional & post-transcriptional regulation & variant effect prediction. www.nature.com/articles/s41... 1/
nature.com
Predicting RNA-seq coverage from DNA sequence as a unifying model of gene regulation - Nature Genetics
Borzoi adapts the Enformer sequence-to-expression model to directly predict RNA-seq coverage, enabling the in-silico analysis of variant effects across multiple layers of gene regulation.
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Anshul Kundaje @anshulkundaje.bsky.social · 07/01/2025
Very excited to announce that the single cell/nuc. RNA/ATAC/multi-ome resource from ENCODE4 is now officially public. This includes raw data, processed data, annotations and pseudobulk products. Covers many human & mouse tissues. 1/ www.encodeproject.org/single-cell/...
encodeproject.org
Single cell – ENCODEHomo sapiens clickable body map
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Nature Biotechnology @natbiotech.nature.com · 02/01/2025
A DNA language model based on multispecies alignment predicts the effects of genome-wide variants - @yun-s-song.bsky.social go.nature.com/4gWppWg
go.nature.com
A DNA language model based on multispecies alignment predicts the effects of genome-wide variants - Nature Biotechnology
A language model predicts the effects of genetic variants in the human genome.
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Johannes Hingerl @johahi.bsky.social · 23/12/2024
Introducing Flashzoi⚡! We’ve upgraded the Borzoi model with rotary pos. encodings and FlashAttention, resulting in a significant speedup with similar or better accuracy for faster variant effect prediction, quicker model development and more efficient genomic analysis www.biorxiv.org/content/10.1...
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Gagneur lab @gagneurlab.bsky.social · 23/12/2024
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.
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bioRxiv Genomics @biorxiv-genomic.bsky.social · 22/12/2024
Flashzoi: An enhanced Borzoi model for accelerated genomic analysis www.biorxiv.org/content/10.1101/202…
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Laura Martens @lauradmartens.bsky.social · 20/11/2024
The Kipoi seminar is now also on BlueSky! 🎉 Follow @kipoizoo.bsky.social for announcements of upcoming speakers
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