Floris Barthel

A small polymerase ribozyme that can synthesize itself and its complementary strand The emergence of a chemical system capable of self-replication and evolution is a critical event in the origin of life. RNA polymerase ribozymes can replicate RNA, but their large size and structural ...

How could a simple self-replicating system emerge at the origins of life? RNA polymerase ribozymes can replicate RNA, but existing ones are so large that their self-replication seems impossible. Could they be smaller?

Excited to share our latest work in @science.org on a new small polymerase.
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Guarracino Lab | Pangenome Research We develop methods to build and analyze pangenomes, with applications in cancer and complex disease. Translational Genomics Research Institute, Phoenix, AZ.

Looking for a postdoc to build my new lab at TGen (Phoenix, AZ) focused on pangenome methods for cancer and complex disease. Full stack — from pangenome assembly and compression to association studies and somatic variant discovery. Reach out if interested! guarracinolab.github.io#join

Time for a thread on our Christmas preprint “Origin and evolution of acrocentric chromosomes in human and great apes”. I had so much fun with this project and paper. It will be hard to summarize in a thread, but I’ll try www.biorxiv.org/content/10.6... [1/21]

*Mic drop* 🎤

Great to see this out!

New tool from @alexsweeten.bsky.social to find and classify all your satellites: "AniAnn's: alignment-free annotation of tandem repeat arrays using fast average nucleotide identity estimates"
📄 www.biorxiv.org/content/10.6...
📦 github.com/marbl/anianns

It was a great pleasure to learn about a recent discovery in ecDNA biology that answers the most critical question on ecDNA maintenance! @nature.com Are you a non-scientist? No worries! My team wrote a lay-audience-friendly summary about this exciting research finding! Check it out! rdcu.be/eQMvM

Congratulations, we need more assemblies of model organisms!

Efficient sequence analysis with bqtools Interactive bqtools tutorial: learn to analyse sequence data efficiently with BINSEQ files using a command-line interface in your browser.

BINSEQ is a high-performance format for sequencing data and bqtools is a CLI tool that lets you create and manipulate these files in the style of samtools.

Excited to release a tutorial with @robert.bio showcasing how to use it to encode, decode, and grep sequences in the browser on sandbox.bio!

The most pro-EU party just won big in the Dutch election D66 had a surprise surge, tripling their seats in yesterday's Netherlands election—and its openly gay leader Rob Jetten is set to become prime minister.

Breaking: it's now official, the pro-EU D66 party came first in the Dutch election. Their best result ever.

The National Press Agency has just announced the final vote count. It’s a narrow victory with D66 just 15,155 votes ahead of the far-right PVV of Geert Wilders.

Grateful to @mishakolmogorov.bsky.social @benedictpaten.bsky.social @acarroll.bsky.social @kishwar.bsky.social and team for the opportunity to contribute.

Happy to host them. We have a paid summer internship program here at @tgenresearch.bsky.social

Yi-An Chen presenting his work on the telomeric interactome #ASHG2025, now also on biorxiv: www.biorxiv.org/content/10.1...

Thanks for sharing, @samiramin.com! See our first pre-print on this topic here: www.biorxiv.org/content/10.1.... More to follow :)

Ogechukwu (Mimi) Mbegbu, super star RA and resident FISH-ing expert showcasing her cytogenetic analysis of astrocytes undergoing telomere dysfunction at #ASHG2025. Lots of chromosomal chaos observed and a 3-fold bias towards acrocentric abnormalities?! Stay tuned for the mechanism

Clinical, radiological, and molecular insights into extracranial metastases from adult gliomas AbstractBackground. Extracranial metastases from adult gliomas cause diagnostic and therapeutic challenges and are generally poorly investigated. The aim o

Read the original work here academic.oup.com/neuro-oncolo...

Uncommon Territory: The Clinical and Molecular Profile of Metastatic Gliomas Floris P Barthel; Uncommon Territory: The Clinical and Molecular Profile of Metastatic Gliomas, Neuro-Oncology, , noaf244, https://doi.org/10.1093/neuonc/n

I had the opportunity to write an editorial for a piece in Neuro-Oncology (@neuroonc.bsky.social) executing a genomic analysis on perhaps the largest cohort of extracranial metastases of adult gliomas to date. Congratulations to the authors on this terrific piece of work! bit.ly/494Pz8s

Getting excited for #ASHG25. The must see talk is tomorrow at 1:30 by Qiuhui (Iris) Li presenting the first large-scale integration of long-read genome sequencing with electronic health record data across >1000 All of Us participants meetings.ashg.org/event/ASHG25...

Why does the telomere interact with these distant repeats? We speculate that this is key for maintaining nuclear organization or chromosome territories and may involve nuclear orphan receptors. Many questions remain. Read the paper to dive into the data 👇 #TelomereC #Genomics #Chromatin #Epigenetics

We validated these contacts with classic 3C/PCR and confirmed the 3D proximity using Southern Blotting and stunning 3D FISH data, proving these are real, higher-order chromatin structures.

Specifically, we found strong enrichment at three classes of repetitive elements: Interstitial Telomeric Sequences (ITS), Telomere-Associated Repeat 1 (TAR1), and D20S16 elements.

The telomeric interactome spans the entire genome! While contacts are enriched near telomeres (<100 Kb), over 80% of all interactions occurred >5 Mb away from chromosome ends. This isn't just about the subtelomere.

Our initial goal was to map telomeric regulation of key genes, like TERT. The reality? Gene-level interactions were massively outnumbered by contacts with repetitive elements! 🤯

To map the telomeric interactome, we developed Telomere-C (Telomere Conformation Capture). This novel, ligation-free method uses a biotinylated PNA probe to capture telomeric DNA, allowing us to measure nuclear contacts efficiently using short-read sequencing.

Mapping the Telomeric 3D Interactome with Telomere-C Reveals Repetitive Element Hubs Associated with Telomere Maintenance Telomeres are essential for genome integrity, but the accurate, high-resolution mapping of their three-dimensional (3D) chromatin interactions, a process thought to mediate gene regulation and telomer...

This 7-year journey has reached a first milestone! 🥳 Excited to share our preprint (3rd of 2025) on the 3D telomeric interactome, a project that started with a K99 in 2018. Thanks to Yi-An Chen, first postdoc in our lab and first author who worked tirelessly to realize this dream. bit.ly/3W3wuMk

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Mapping the Telomeric 3D Interactome with Telomere-C Reveals Repetitive Element Hubs Associated with Telomere Maintenance https://www.biorxiv.org/content/10.1101/2025.10.09.681516v1

Efficient and accurate search in petabase-scale sequence repositories - Nature MetaGraph enables scalable indexing of large sets of DNA, RNA or protein sequences using annotated de Bruijn graphs.

After years of research and continuous refinement, we’re thrilled to share that our paper on the MetaGraph framework — enabling Petabase-scale search across sequencing data — has been published today in Nature (www.nature.com/articles/s41...)

Fully on board with this as you know and happy to contribute my 2 cents. Coordinates/position, be gone!

P.s. this is a repost of a deleted post from earlier today, where the link to the pre-print was not working. An update to BlueSky allowing post editing would be welcomed :)