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Posts by Jonathan Frazer

Population-scale repeat expansions elucidate disease risk and brain atrophy - Nature Decreased brain volumes and increased NfL levels can be observed earlier than disease diagnosis in short-tandem-repeat-associated neurological diseases.

Very nice paper from Regeneron www.nature.com/articles/s41...

1 week ago 3 0 0 0
Biomedical genomics - Dr. Núria López-Bigas
Biomedical genomics - Dr. Núria López-Bigas Dr. Núria López-Bigas, Group Leader, Biomedical Genomics Laboratory, IRB Barcelona.

🧬 What if reading a tumor's mutations could tell us exactly how to fight it? Dr. @nlbigas.bsky.social is doing exactly that — decoding the genomic fingerprints of #cancer to guide personalized treatments. This is #CancerResearch, reimagined.

1 week ago 6 2 0 0
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evedesign: accessible biosequence design with a unified framework Unified protein design for computational researchers and experimentalists

Meet evedesign: open-source AI, accessible protein design
✅Combine models for multiobjective optimization
✅Integrate experimental data
✅ Run on your own infrastructure
📄Paper: www.biorxiv.org/content/10.6...
💻Code: github.com/evedesignbio
🌐Webserver: evedesign.bio
Collaborate: hello@evedesign.bio

4 weeks ago 27 6 0 0

New paper showing that much of the apparent success of protein language models in predicting mutational effects is a mirage: These models mostly memorize sites. 1/
www.biorxiv.org/content/10.6...

1 month ago 180 72 6 5

The main project of my PhD 🧬🔬 is out: we developed single-cell lentiMPRA, a lentivirus-based method to measure enhancer activity and transcriptomes at single-cell resolution. We then applied sc-lentiMPRA to fully synthetic enhancers 🧩...

🔗 doi.org/10.64898/202...

1 month ago 37 10 3 3
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🚨 NEW
@FraticelliLab
PREPRINT JUST WENT LIVE

biorxiv.org/content/10.6...

Here, we describe PLSTCs, Soluplus-based expansion cultures of primary mouse *Acute Myeloid Leukemia* Stem Cells. And then we use LARRY barcoding to identify drivers of leukemogenicity and drug resistance!

1 month ago 27 8 1 1
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Home – Cell Symposia: Decoding Cellular Complexity: Single Cell Biology in the Era of AI Cell Symposia: Decoding Cellular Complexity: Single Cell Biology in the Era of AI

Join us at Cell Symposia: Single-Cell Biology in the Era of AI (Dec 2–4, 2026, Munich) 🇩🇪

From multi-omics to AI-driven models of cellular dynamics — an exciting lineup across experimental & computational biology.

Hope to see you there!
🔗 www.cell-symposia.com/single-cell-...

1 month ago 15 10 0 0
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🚀 From modality-specific to compositional foundation models for cell biology

Happy to share our new Perspective in Cell Systems.

We describe an emerging shift toward compositional multimodal architectures 🧩
authors.elsevier.com/c/1mdzg8YyDf...

1 month ago 11 3 1 0

Early bird registration is closing Feb 28! We will have an AMAZING party!

2 months ago 2 3 0 0
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Our grad-level "Deep Learning" course (MIT's 6.7960) is now freely available online through OpenCourseWare: ocw.mit.edu/courses/6-79...

Lecture videos, psets, and readings are all provided.

Had a lot of fun teaching this with @sarameghanbeery.bsky.social and @jeremybernste.in!

2 months ago 123 38 3 2
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Accelerating Scientific Research with Gemini: Case Studies and Common Techniques Recent advances in large language models (LLMs) have opened new avenues for accelerating scientific research. While models are increasingly capable of assisting with routine tasks, their ability to co...

Post 3 of attempting to share more ML/Bio papers on Bluesky: Accelerating Scientific Research with Gemini: Case Studies and Common Techniques
arxiv.org/abs/2602.03837

2 months ago 2 0 0 0
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Training LLMs with verifiable rewards uses 1bit signal per generated response. This hides why the model failed.

Today, we introduce a simple algorithm that enables the model to learn from any rich feedback!
And then turns it into dense supervision.

(1/n)

2 months ago 10 3 1 1
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Self-Distilled Reasoner: On-Policy Self-Distillation for Large Language Models Knowledge distillation improves large language model (LLM) reasoning by compressing the knowledge of a teacher LLM to train smaller LLMs. On-policy distillation advances this approach by having the st...

Post 2 of sharing interesting ML/bio papers that don’t seem to be getting much attention on Bluesky.

Three papers on self-distillation, all from the same week!
arxiv.org/abs/2601.18734
arxiv.org/abs/2601.19897
arxiv.org/abs/2601.20802

2 months ago 2 0 0 0
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Why don’t neural networks learn all at once, but instead progress from simple to complex solutions? And what does “simple” even mean across different neural network architectures?

Sharing our new paper @iclr_conf led by Yedi Zhang with Peter Latham

arxiv.org/abs/2512.20607

2 months ago 154 41 7 3
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Perplexity Cannot Always Tell Right from Wrong Perplexity -- a function measuring a model's overall level of "surprise" when encountering a particular output -- has gained significant traction in recent years, both as a loss function and as a simp...

Bluesky doesn’t really shine yet as a place to discover papers, especially at the intersection of biology and ML. To help a little, I’m going to start sharing papers I find interesting. To kick things off, here’s one from @petar-v.bsky.social and colleagues at DeepMind
arxiv.org/abs/2601.22950

2 months ago 65 10 3 0

"Probing the Dark Energy in the Functional Protein Universe" is now published in @pnas.org 🎉

www.pnas.org/doi/10.1073/...

2 months ago 6 4 0 0
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For no reason, I remembered today that I too once got to take a picture holding Nobel Prize that I didn't earn

3 months ago 121 9 2 1

TF-MINDI is out! A new method to learn cis-regulatory codes through rich embeddings of TF binding sites. TF-MINDI decomposes motif neighbourhoods, and works downstream of any sequence-to-function deep learning model. We deeply study the enhancer code in human neural development, check out the thread

3 months ago 60 38 1 0
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We’ve updated the EVEREST benchmark to include real-world viral evolution! www.biorxiv.org/content/10.1...

Co-led by Noor Youssef and me, along with co-authors Navami Jain, Aarushi Mehrotra, Sarrah Leung, Abigail Jackson, @deboramarks.bsky.social, and with @cepi.net @futurehousesf.bsky.social!

3 months ago 5 2 1 0

🚨🚨🚨

We're looking for a research tech to work on alt splicing, pancreatic islets and diabetes. The goal is to set a high-throughput platform to investigate the role of alternative exons in beta cell biology!

Interested in joining our lab at @melisupf.bsky.social? 👇

www.upf.edu/documents/d/...

3 months ago 6 5 0 0

My guess is main conference (bridge) workshops (panda)

4 months ago 0 0 1 0
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Interactions with polygenic background impact quantitative traits in the UK Biobank Association studies have linked many genetic variants to a variety of phenotypes but under-standing the biological mechanisms underlying these signals remains a major challenge. Since genes operate wi...

Excited to share a preprint of my PhD project looking at interactions between SNPs and polygenic scores in the UK Biobank!

A thread... 🧵

www.medrxiv.org/content/10.1...

4 months ago 52 19 1 1

...and if you are interested in doing a PhD with Mafalda and I, we currently have one opening, with deadline this Sunday! www.crg.eu/en/content/t...

4 months ago 1 1 0 0

LFB is NeurIPS-bound! 🎉

Mafalda, @cwjpugh.bsky.social and I will be in San Diego next week for NeurIPS -- happy to chat variant effect prediction (or just say hi).

“From Likelihood to Fitness: Improving Variant Effect Prediction in Protein and Genome Language Models”
openreview.net/pdf/a151f62e...

4 months ago 10 1 1 0
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New paper “Proteome-wide model for human disease genetics” is now live at Nature Genetics: rdcu.be/eRu7K
popEVE (pop.evemodel.org) finds the needles in the haystacks of human genetic variation:

4 months ago 31 12 1 0
Centre for Genomic Regulation Website

...and if you are interested in doing a PhD with Mafalda and I, we currently have one opening, with deadline this Sunday! www.crg.eu/en/content/t...

4 months ago 4 0 0 0
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Proteome-wide model for human disease genetics Nature Genetics - popEVE is a proteome-wide deep generative model to identify and predict pathogenicity of missense mutations causing genetic disorders.

popEVE is out in Nature Genetics! 🎉
We built a proteome-wide model that combines cross-species and human population variation to rank missense variants by disease severity and help diagnose rare genetic disorders.
rdcu.be/eRu7K

4 months ago 50 20 2 1
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New AI model enhances diagnosis of rare diseases PopEVE system outperformed rivals such as Google DeepMind’s AlphaMissense

PopEVE covered by @financialtimes.com today! www.ft.com/content/bc49...

4 months ago 5 0 0 0
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Today we introduce Mafalda Dias and @jonnyfrazer.bsky.social from CentreGenomic Regulation @crg.eu ,with one PhD position open in their lab.

Learn more about the PhD programme and how to apply → www.evomg-dn.eu

#PhD #DoctoralTraining #ResearchCareers #LifeSciences #Genomics #EvolutionaryBiology

5 months ago 4 2 0 0

🚨 Two weeks left to apply!

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