We are so excited to see our work out in @nature.com! We present a multi-omic single-cell atlas of 12 organs in human fetal development, explore the enhancer landscape, use deep learning to infer rules of transcription factor activity, and interpret non-coding variants in complex traits: #GeneReg 🧬🖥️
Posts by Emmanuel Cazottes
MPRAs are the gold-standard tool for measuring how DNA sequences drive gene expression and prioritizing variant effects.
In this preprint we asked: does it matter WHERE you place a variant in an MPRA?
Spoiler: yes, and it might lead you to miss disease-causing variants. 1/6
doi.org/10.64898/202...
🔬 X chromosome inactivation: same function, different regulations depending on the species. A study led by @crougeulle.bsky.social with Université Lyon 1 and @embl.org shows that while humans, macaques and marmosets all inactivate one X chromosome, the regulatory mechanisms have evolved differently.
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Science in the Keg brings researchers and the #Vancouver community together for a relaxed evening of discovery and conversation on the science of nutrition! No expertise required!
Free registration luma.com/3a5g5ktr!
In partnership with @scienceinvancouver.com @sbmeubc.bsky.social
Many thanks to the people who collaborated with us on this study! @charbel-alfeghaly.bsky.social @ireneaksoy.bsky.social Cloé Rognard @crougeulle.bsky.social @agneseloda.bsky.social @rougeulle-lab.bsky.social Anouk Necsulea @heardlab.bsky.social Pierre Savatier, Laura Villacorta, Michael Dong
The takeaway: regulatory elements can acquire function before becoming evolutionarily essential. They're complexity waiting to matter !
Using chromatin profiling and CRISPR, we identified enhancers, chromatin boundaries, and long non-coding RNAs controlling XIST, some conserved, others species-specific. The surprise: when we scanned these functional sequences for signatures of natural selection, most are evolving neutrally.
We often assume that if a DNA sequence does something functional, evolution must have preserved it. Our new study challenges this idea by investigated how the regulatory network of XIST, a gene essential for mammalian development, has evolved across marmosets, macaques, and humans.
Our paper on the evolution of XIST regulatory network in primates is now published in Science Advances! Check out the paper www.science.org/doi/10.1126/... or a digest of our findings emmanuelczt.github.io/posts/2026/0... A short 🧵 of our main findings 👇
SOOOO MANY GENOMICS MODELSSSS! 😱 Often unclear which is best since they benchmark differently! In this preprint, we introduce GAME, a new framework that utilizes APIs to enable sustainable, uniform model evaluation so we can see which is actually best for each task. doi.org/10.1101/2025...
Finally out! 🥳 Our paper showing how a transposable element (TE) insertion can cause developmental phenotypes is now published @natgenet.nature.com 🧬🦠🐁
Below is a brief description of the major findings. Check the full version of the paper for more details: www.nature.com/articles/s41588-025-02248-5
Black and white photos of a thylacine (now extinct) and a grey wolf, in the same pose, looking pretty similar!
Lateral adult skull of the c. thylacine and d. wolf. Ventral adult cranium of the e. thylacine and f. wolf. They also look pretty similar!
We tile through ~300 ultra conserved elements 10bp at a time in 6 taxa (some alive, some extinct), to ask, are they the reason the two skulls below- separated by 160 million years of evolution - are so similar?
(image from former PhD student Laura Cook)
The evolutionary foundations of transcriptional regulation in animals www.nature.com/articles/s41... (read free: rdcu.be/evDcA) 🧬🖥️🧪
CAGT was fun! Thanks @carldeboer.bsky.social @sudpinglay.bsky.social and the de Boer lab for organizing! Folks from Seattle, Oregon, and other places. Great community. Arman gave a usual super talk, and Sanchit and Dayag won poster prizes☺️
Postdoc🚨!
Come join our HFSP team to uncover how chromatin moves in cells and what this means for genome function! Great opportunity to combine single-cell genomics, live imaging and polymer physics in the unique mammalian retina with @andersshansen.bsky.social, Davide Michieletto & Sandra Tenreiro
EPIGENETIC HULK READY TO SMASH AGAIN! GET IN LOSERS!
How to find Evolutionary Conserved Enhancers in 2025? 🐣-🐭
Check out our paper - fresh off the press!!!
We find widespread functional conservation of enhancers in absence of sequence homology
Including: a bioinformatic tool to map sequence-diverged enhancers!
rdcu.be/enVDN
github.com/tobiaszehnde...
🧠 Excited to share my main PhD project! We mapped the regulatory rules governing Glioblastoma plasticity using single-cell multi-omics and deep learning. This work is part of a two-paper series with @bayraktarlab.bsky.social @oliverstegle.bsky.social and @moritzmall.bsky.social, Preprint at end🧵👇
Join us on Wednesday next week for two exciting talks on transcription regulation from @kasitc.bsky.social and @davidsuter.bsky.social!
You can register at: us06web.zoom.us/webinar/regi...
Very happy to share the peer-reviewed version of our paper in which we study the formation and function of pair-wise and multi-way enhancer-promoter interactions in gene regulation (see thread below): www.nature.com/articles/s41...
💥🥳 At long last, our latest paper is out!
Gag proteins of endogenous retroviruses are required for zebrafish development
www.pnas.org/doi/10.1073/...
Led heroically by Sylvia Chang & @jonowells.bsky.social
A study which has changed the way I think of #transposons! No less! 🧵 1/n
I’m very excited to share our work on the early evolution of animal regulatory genome architecture - the main project of my postdoc, carried out across two wonderful and inspirational labs of @arnausebe.bsky.social and @mamartirenom.bsky.social. www.nature.com/articles/s41...
🎉 This paper has been a long time and a labour of love (and hardship) for multiple group members, but, finally: we MPRA'ed 25k introgressed variants (Denisovan and Neanderthal) segregating at allele frequencies > 0.15 in humans today to evaluate their potential to regulate gene expression.
We quantify the aggregation of >100,000 random protein sequences to train CANYA, a convolution-attention hybrid neural network to predict aggregation from sequence. With @bennibolo.bsky.social www.science.org/doi/10.1126/...
Delighted to share our latest work deciphering the landscape of chromatin accessibility and modeling the DNA sequence syntax rules underlying gene regulation during human fetal development! www.biorxiv.org/content/10.1... Read on for more: 🧵 1/16 #GeneReg 🧬🖥️
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...
One of the toughest parts of the field of massively parallel reporter assays to measure >~thousands of elements is that there are hundreds of pubs using them, but no central repo to easily locate the results....until now! Great collab w/ Jingjing Zhao, Ilias G-S, and @nadavahituv.bsky.social!!
Vidéos of the symposium are now available online @collegedefrance.bsky.social Just click and enjoy!🙏🏼🤘
I am elated to share that our manuscript describing Variant-EFFECTS, a high-throughput technology we developed to precisely and quantitatively measure the effects of CRISPR-mediated edits on gene expression, is now published at @cellpress.bsky.social: authors.elsevier.com/c/1kxgiL7PXu...