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Which #MDSsm patients are most likely to have UBA1 mutations associated with #VEXAS syndrome? Our study now out in @BloodJournal: Molecular and clinical presentation of UBA1-mutated MDS by Elli Papaemmanuil, PhD, Elsa Bernard, @MariaCreignou, David Beck, MDS IWG-PM & MDS Foundation

I am tremendously grateful and fortunate to work with such an amazing group (and some additional folks who could not join us)!!!

Hi #ScienceTwitter! Is there a good book on biotech you would recommend? I recently read 'Genentech: The Beginnings of Biotech' and loved it.

There has been confusion over mitochondrial mutation detection, consensus variant calling, and lineage tracing in single cells. Here, we detail how ReDeeM addresses these challenges, improving detection of mtDNA mutations by 10-fold and lineage tracing. Led by Chen Weng and

Respect to Chen for addressing these concerns so constructively. A key point here is that majority (2/3) of the one-molecule mutations have high average support across cells (i.e., they're not LMHCs). They contain valuable lineage information and shouldn't be discarded.

Transformation of fetal Schwann cell precursors (SCPs) may represent one possible mechanism of tumour initiation in #neuroblastoma with chromosome 17 aberrations as a characteristic element. New KI study published in Molecular Cancer BMC. doi.org/10.1186/s12943…

when my preprint hits 1 citation

It's great to see my first paper of the PhD published in Nature Biotechnology! go.nature.com/47ARizC. This describes our scRNA-seq method, scITD, for analyzing how the transcriptional states of multiple cell types are linked across patients. A few highlights from the paper:

Submitting my revised manuscript this week, and it’s safe to say this remains my favorite point-by-point response to reviewer 🥲

Very excited to share our preprint demonstrating that common genetic variants contribute to variable expressivity in rare telomere biology disorders! Highlights below 1/ medrxiv.org/content/10.110…

I'm thrilled to share our new study of the spatial evolution of Kras;p53-driven mouse lung adenocarcinoma! It's been fantastic leading this with Dian Yang & Sun_Dawei, and enjoying a long-standing collaboration with Jonathan Weissman's Lab Yosef Lab & Fei Chen Lab. biorxiv.org/cgi/content/sh…

Thrilled to see our work out today! It’s been a joy to be a part of this incredible team! 🧬🩸

WHY DOES THE EPIGENETIC CLOCK TICK? While money has been poured into developing therapies to reverse the epigenetic clock (Altos Labs 🤑), why the epigenome changes with age at all is unclear. In Nature Aging today, we suggest a potential driver: somatic mutations.

Today, we at OpenAI launched Deep Researcher and I wanted to share a deeply personal story about how amazing this tool is and how it will change the world. Trigger warning, related to cancer....1/9

Thrilled to join the 2024 cohort of Damon Runyon Cancer Research Foundation fellows!

What do you do when grants are cancelled, faculty searches are frozen, and the ability to do the science you believe in is slipping out of reach? I wrote an essay. On efforts to solve aging with reprogramming, the primacy of the epigenome, and the path to rewriting our future:

Delighted to share our study out in Cell Stem Cell today from the dream team Elli Papaemmanuil, PhD Iannis Aifantis AK Eisfeld Dan Landau! We profiled IDH-mutated AML patients to define how IDH and co-mutations shape the disease at baseline and responses to IDH-inhibitors. 🧵👇