Excited to share a big KaryoScope update this past week: the HKS k-mer backend is now integrated, and you can build databases for any features of interest. The complete @humanpangenome.bsky.social HG002 assembly (~6.3 Gbp) now annotates in 21 minutes on a MacBook Pro. 🧵
Floris Barthel
@florisbarthel.bsky.social
Assistant professor @TGen | Postdoc @jacksonlab @MDAndersonNews | Genomics | Cancer | Gliomas | Telomeres
Excited to share a big KaryoScope update this past week: the HKS k-mer backend is now integrated, and you can build databases for any features of interest. The complete @humanpangenome.bsky.social HG002 assembly (~6.3 Gbp) now annotates in 21 minutes on a MacBook Pro. 🧵
HPRC2: A human pangenome reference with near-complete coverage of common genetic variation https://www.biorxiv.org/content/10.64898/2026.07.21.739710v1
Fast Set Operations for Compact k-mer Sets https://www.biorxiv.org/content/10.64898/2026.05.24.727514v1
Busy month at the lab. We've refreshed our site with four new preprints: arm-specific telomeres in astrocytoma (Jehangir), pancreatic cancer assembly (Wagner), telomere crisis in astrocytes (Mbegbu) and KaryoScope (Ranallo-Benavidez). Plus new(-ish) lab members Shea, Nick, Daniel, Griffin, and Divy.
the barthel laboratory - studying telomere dysfunction in gliomagenesis and evolution at TGen
The Barthel Laboratory studies how telomere dysfunction drives structural genome evolution and shapes the molecular trajectory of cancer. Based at TGen in Phoenix, Arizona, we combine cytogenetics and...
barthel-lab.org
Telomere crisis is an engine of genomic instability, driving the structural evolution of cancer genomes. Our new preprint finds this damage isn't random: it converges on the nucleolus and the chromosomes that build it. 🧵 www.biorxiv.org/content/10.6...
The human genome's most variable and clinically important regions (centromeres, telomeres, and acrocentric short arms) have been hardest to study at scale. Thrilled to share KaryoScope, our new preprint that brings them within reach. 🧵 www.biorxiv.org/content/10.6...
🧵 Excited to contribute to a new preprint led by Justin Zook & the NIST/GIAB team: "A complete human pancreatic cancer genome": the first near-complete, haplotype-resolved tumor cell line assembly (HG008-T, hypodiploid PDAC). 📄 www.biorxiv.org/content/10.6...
Very excited for our lab's first paper to be printed!
⭐ #NARBreakthrough ⭐ New study delivers the first chromosome-level phased assemblies, uncovering >50,000 #structuralvariants and rescuing millions of #unmappable reads in BJ and IMR-90 human cell lines. 📖 Read here: doi.org/10.1093/nar/... #Genomics #CellLines #CommunityResource
New preprint! We used Oxford Nanopore long-read sequencing to ask: does chromosome-arm-specific telomere length shape how IDH-mutant astrocytoma genomes evolve? Short answer: yes, and in two opposite directions. 🔗 www.biorxiv.org/content/10.6...
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. 1/n
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 ...
science.org
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
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.
guarracinolab.github.io
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]
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
Circular DNA has a ticket to ride chromosomes | Nature
How circular extrachromosomal DNA is inherited during cell division is a puzzle. Key sequences enabling this DNA to journey with chromosomes have been identified. How circular extrachromosomal DNA is inherited during cell division is a puzzle. Key sequences enabling this DNA to journey with chromosomes have been identified.
rdcu.be
Nature research paper: Genetic elements promote retention of extrachromosomal DNA in cancer cells go.nature.com/3JLvsSJ
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!
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.
sandbox.bio
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.
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.
davekeating.substack.com
Grateful to @mishakolmogorov.bsky.social @benedictpaten.bsky.social @acarroll.bsky.social @kishwar.bsky.social and team for the opportunity to contribute.
@tgenresearch.bsky.social partners to release new technology with @googleresearch.bsky.social and @ucscgenomics.bsky.social: DeepSomatic 🧑🏽💻 This #machinelearning method is a major leap forward for #cancer mutation #detection. More at bit.ly/4nYDDJY and lnkd.in/gQA4frVa #Research #Genomics
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 :)
Cell-Free DNA Sequencing Uncovers the Longitudinal Consequences of Temozolomide Treatment and Host Co-Culture in Glioblastoma
Glioblastoma (GBM) is a highly aggressive brain tumor with limited options for longitudinal monitoring. We evaluated the potential of cell-free DNA (cfDNA) as a real-time biomarker of tumor burden und...
biorxiv.org
podcasts.apple.com/us/podcast/l... @florisbarthel.bsky.social and team on liquid biopsy for brain tumors 💪
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
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
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
bit.ly
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...
PheedLoop
PheedLoop: Hybrid, In-Person & Virtual Event Software
meetings.ashg.org
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
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...
bit.ly
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
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...)
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.
nature.com
Thrilled to share our preprint led by the lab's incredible first PhD student, @sharvarimankame.bsky.social! 🎉 We've explored the longitudinal consequences of temozolomide (TMZ) treatment & host co-culture in #Glioblastoma using cell-free DNA (cfDNA) sequencing. A deep dive into therapeutic impact..
Cell-Free DNA Reveals the Longitudinal Effects of Temozolomide Treatment and Host Co-Culture in Glioblastoma Models
Glioblastoma (GBM) is a highly aggressive brain tumor with limited options for longitudinal monitoring. We evaluated the potential of cell-free DNA (cfDNA) as a real-time biomarker of tumor burden und...
doi.org
This is going to be a cool event, invited talk by Jana Ebler + discussion panel and latest research activities in graphs+pangenomics!
Also check the pangenomics mini-symposium, TBA a flash talk by @imartayan.bsky.social 🧬
REINDEER2: practical abundance index at scale https://www.biorxiv.org/content/10.1101/2025.06.16.659990v1