Paolo Casale

PI at @HelmholtzMunich, fellow at @TU_Muenchen, pushing the boundaries of computational methods for human genetics & health AI.

[Paolo Casale @fpcasale]

Now out in @GenomeBiology!

HistoGWAS combines histology foundation models, statistical genetics and generative AI to characterize variant effects on tissue morphology, enabling genetic analysis at the tissue scale.

Led by @skc_2017
@HelmholtzMunich @PioneerCampus

[Paolo Casale @fpcasale]

@JohnGolf_CA @MariosGeorgakis Exactly. The signal is already there at GTEx scale. Our simulations show that ~10K samples would detect variants explaining ~10× less variance. Scaling this opens the door to systematic mapping of disease loci effects on tissue architecture.

[Paolo Casale @fpcasale]

@GenomeBiology @skc_2017 @HelmholtzMunich @PioneerCampus https://t.co/TbJ1FZqr0j

[Paolo Casale @fpcasale]

Now out in @GenomeBiology!

HistoGWAS combines histology foundation models, statistical genetics and generative AI to characterize variant effects on tissue morphology, enabling genetic analysis at the tissue scale.

Led by @skc_2017
@HelmholtzMunich @PioneerCampus

[Paolo Casale @fpcasale]

📢 Deadline extension: RECOMB-Genetics 2026

The RECOMB-Genetics 2026 workshop will take place in Thessaloniki, Greece 🇬🇷 on May 25, 2026, as part of the RECOMB satellite meetings, just before the main RECOMB conference (May 26–29).

📅 Submission deadline: April 2 (AoE)

👉 https://t.co/1CxyO3KFWe
@RECOMBconf

[Paolo Casale @fpcasale]

Huge thanks to all co-authors and collaborators for their contributions. Daniel Sens, Ayshan Aliyeva, Shubham Chaudhary, Qiaohan Xu, Emmanuelle Salin, Johannes Schiefelbein, Ben Asani, Oana Veronica Amarie, Elida Schneltzer, @asegre, @ja_schnabel, @caina89

[Paolo Casale @fpcasale]

New preprint: REECAP, a framework using imaging foundation models for disease genetics analysis. We benchmark it against alternative image-derived representations and link loci to retinal morphology. Led by @shilova_lubov, collab with @BjoernEskofier.

🔗 https://t.co/ZNTb5NBWud

[Paolo Casale @fpcasale]

🚀 In @genomeresearch!
BayesRVAT integrates pathogenicity predictions, e.g. from AI sequence models, to model gene disruption-response in rare variant association studies. Collab with @caina89 & @Tkaraletsos.
@HelmholtzMunich @PioneerCampus @czbiohub
🔗https://t.co/H5ULR7EnFm

[Paolo Casale @fpcasale]

🚨 RECOMB-Genetics Deadline 🚨

The RECOMB-Genetics 2025 workshop is in Seoul 🌏 on April 25, 2025, just before the main RECOMB conference (April 26–29).

📅 Submission deadline: Feb 14, 2025 (AoE)

👉https://t.co/4AifuCsur6

Submit your work and join us for this exciting event!

[Vagheesh Narasimhan @vagheesh]

AI is completely insane! (From the lab of this years winner of the Nobel prize)

https://t.co/aQ0Zur5wSE

[Paolo Casale @fpcasale]

🚨 RECOMB-Genetics Deadline 🚨

The RECOMB-Genetics 2025 workshop is in Seoul 🌏 on April 25, 2025, just before the main RECOMB conference (April 26–29).

📅 Submission deadline: Feb 14, 2025 (AoE)

👉https://t.co/4AifuCsur6

Submit your work and join us for this exciting event!

[RECOMB Conference Series @RECOMBconf]

🚨 UPCOMING DEADLINES 🚨

⭐️Highlights: January 27, 2025
📋Posters: January 27, 2025

RECOMB-Seq: January 24 (abstracts)
RECOMB-Microbiome: January 31
RECOMB-P&E: February 5
RECOMB-CG: February 7
RECOMB-Genetics: February 14
RECOMB-CCB: February 14

https://t.co/rLiCgmclJ6

[Simon Wengert @SimonWengert]

After 4 fantastic years of research, with @caina89 & @heinig_matthias, I’m thrilled to share the first tissue specific map of apparent mtDNA heteroplasmy in humans and their relationships with donor age and mtDNA gene expression across 49 human tissues!👇
https://t.co/bQ5rxhbMTX

[Paolo Casale @fpcasale]

Thrilled to announce that my group at @HelmholtzMunich and @PioneerCampus will contribute to the transformative scientific endeavor of advancing virtual cell models with @Tkaraletsos and @cziscience. Truly honored to collaborate with such a pioneering and brilliant team! 🧬🔬

[Theofanis Karaletsos @Tkaraletsos]

Excited to share we are partnering with new AI residents @StephanMandt, @FrancescoLocat8, @fpcasale and their labs at @UCIrvine, @ISTAustria, and @HelmholtzMunich in support of our work at @cziscience to build virtual cell models that can accelerate scientific discovery and progress.

[Florian Kofler @neuronflow]

We present MultiOrg: an #organoid dataset tailored for #object_detection tasks with #uncertainty quantification. Over 400 high-resolution 2D #microscopy images and multi-expert annotations of more than 60,000 organoids.
Paper: https://t.co/39WjGkSVF4
Data: https://t.co/64vBOSvPGi

[Shubhankar Londhe @sg_londhe]

Looking to enhance rare variant association testing? Catch my platform talk on FuncRVP - a Bayesian rare variant association framework leveraging functional gene embeddings.
Nov 7, 11:30-11:45, Room 501. #ASHG24

[Tingying Peng @p_tingying]

I’m thrilled to introduce MemBrain V2(https://t.co/YLuu6oKEqt), our latest research tool developed by @LorenzLamm and co-supervised by @bengeliscious, right here at the beautiful Princeton campus. It’s exciting to see how widely it’s being adopted by the community!

[Prof Lennart Nacke, PhD @acagamic]

PhD students—Do this and 90% of your paper problems will disappear.

The secret to getting your papers accepted isn't what you think.

It's about...

10 rules to structure your papers like you mean business.
I wish I knew these when I started my PhD.
Here they are:

[Alex Strudwick Young @AlexTISYoung]

https://t.co/pqWNSLcJYx

[Paolo Casale @fpcasale]

As a physicist-turned-AI scientist, I’m thrilled to see this! Physics principles are at the core of AI breakthroughs, and AI models are dynamic physical systems!!! 🌍🔬 #AI #Physics #NeuralNetworks #NobelPrize2024

[The Nobel Prize @NobelPrize]

BREAKING NEWS
The Royal Swedish Academy of Sciences has decided to award the 2024 #NobelPrize in Physics to John J. Hopfield and Geoffrey E. Hinton “for foundational discoveries and inventions that enable machine learning with artificial neural networks.”

[Paolo Casale @fpcasale]

Thrilled to see this out in @genomeresearch! We here enable risk predictions using GWAS summary stats, unlocking biomarker discovery without follow-up data. Led by @D4niel_Sen5 in collab with @BjoernEskofier. @HelmholtzMunich @PioneerCampus @TU_Muenchen https://t.co/Fem5yohc1G