Complete diploid genomes anchored to the pangenome and interpreted with the help of AI models. Endorsed! We are very actively building towards this future for medical genetics 🔮

It's crazy that all of HPRCv2 (466 human genomes totalling 1.5Tbp) can be indexed in just 24GB! Or 36GB with ~single cache miss LF-mapping, which makes it *much* faster than the B-tree representation used by RopeBWT.

Movi 2 has appeared (as an advance article) in Bioinformatics 🧬 Faster, leaner pangenome queries — half the memory of Movi 1, ~30% faster. Paper: academic.oup.com/bioinformati... Code: github.com/mohsenzakeri/Movi (1/6)

Last chance to register for a Scalable genomics course this autumn! It will be a banger. With @katiejenike.bsky.social @richard-durbin.bsky.social @npmalfoy.bsky.social and @vikramshivakumar.bsky.social! coursesandconferences.wellcomeconnectingscience.org/event/scalab...

T2T roadshow this week! ✈️ Monday, ESHG talk on personalized genomes and Robertsonians ✈️ Wednesday, Sanger ToL talk on great ape acrocentric chromosomes 🚂 Thursday, QMUL talk on a little bit of both 🚇 Friday, London reunion with T2T legend @sergeynurk.bsky.social 🎉

Now published: journals.plos.org/plosbiology/...

We are excited to share our pan-pangenome paper! This is a long time coming work of my postdoc with the incredible @psudmant.bsky.social, and a stellar group of people! I hope you enjoy reading it! And I am excited to talk more more about it this week at #PEQG26!! www.biorxiv.org/content/10.6...

🦋🌿High-quality genomes begin with quality biological material. 🐝 Before sequencing, each species is identified, documented, collected, and preserved to ensure integrity. For insects, this requires field expertise, taxonomy, and preservation workflows. Biodiversity genomics starts with the specimen🐞

T2T assemblies for nearly all major Y chromosome haplogroups courtesy of a collab between @humanpangenome.bsky.social and HGSVC! What was once the hardest human chromosome to finish can now be routinely assembled thanks to ONT + Verkko www.biorxiv.org/content/10.6...

A big preprint from my group! Muller Elements are considered to be conserved in flies. We tested it by reconstructing the ancestral dipteran karyotype using 340 chromosomal genomes and suprise suprise, they're not... Led by @juliagries.bsky.social and Sam Ebdon. www.biorxiv.org/content/10.6... 🧵👇

🧬New from @ahoischen.bsky.social & co! 📄HiFi sequencing accurately identifies clinically relevant variants in paralogous genes

Old friend and new @jhucompsci.bsky.social colleague @benlangmead.bsky.social visited the NIH today and presented a great talk on pangenomes and BWT at exactly the level I need to hear it 🚣 🚣 🚣 😆 Thank you Ben!

Revamped the teaching materials site. Light/dark mode switch at the top. More consistent, compact presentation of all the materials. + Icons and such! www.langmead-lab.org/teaching.html

Off to the first of five “Summer of Nanopore” workshops. More than 100 faculty across the U.S. be trained, joining a growing network of educators making genome sequencing a routine part of classroom learning and research experiences. Box 1 of 3; water surveillance mobile lab!

Some thoughts on where AI in genomics stands right now, building on a symposium we recently hosted at UChicago. Seven points, ranging from why scaling DNA models hasn't delivered, to why metadata is the real bottleneck, to the weird backlash against AI in academia open.substack.com/pub/blekhman...

1/ There is a bill going through the New York State legislature that would transform our ability to provide medical genetics care: www.nysenate.gov/legislation/...

Don't miss the ASHG annual meeting abstract submission deadline, just one week away! This year's meeting will be held in Montreal, October 20–24. The deadline is earlier than in previous years, so be sure to submit and share your research: ashgmeeting.ashg.org/programs/abs... #ASHG26 #ASHG2026

Happy 100th to a real one.

🧵 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...

Arang Rhie from @aphillippy.bsky.social ’s lab told us about there is hidden structural variation on the human acrocentric chromosomes This project benefited from UK Biobank using all hg38 sequences (chrUn_…) More available at doi.org/10.64898/202... #BoG2026 @cshlmeetings.bsky.social

We now have genome browsers on our UCSC mirror at genome.senckenberg.de for the 1033 mammal and 866 bird assemblies, showing spliceAi, reference-based and ref-integrated TOGA2 tracks. Tables with links to all browsers are genome.senckenberg.de/TOGA2Mammali... & genome.senckenberg.de/TOGA2Aves.html

Celebrate the last day of finals by joining us for the last CS seminar of the semester @sergek.bsky.social! Learn more here: www.cs.jhu.edu/event/cs-sem...

Friday was my last day at NHGRI. After 10 wonderful years, my lab is headed to Johns Hopkins University genomeinformatics.github.io/movingday/

Super happy to share the published version of our study: “Germline sequence variation within the ribosomal DNA is associated with human complex traits” in Cell Genomics www.cell.com/cell-genomic...!

🐴 Happy to announce a new addition to the T2T stable! "Fully Phased Telomere-to-Telomere Assemblies for Thoroughbred Horse and Donkey Haplotypes derived from a Mule Illuminate the Peculiar Evolution of Equid Centromeres" 📄 www.biorxiv.org/content/10.6...

This. A thousand times this.

Meiosis faces a fundamental problem: It must repair hundreds of DNA double-strand breaks while executing a transcriptional programme essential for gamete development. But many of these breaks occur in genes. So how are these two processes reconciled? www.biorxiv.org/content/10.6...

More acrocentric investigations, this one led by @arhie.bsky.social 🕵🏻‍♀️ “Biobank-scale genotyping of Robertsonian translocations reveals hidden structural variation on the human acrocentric chromosomes” 🧵[1/8] 📄 www.biorxiv.org/content/10.6...

We built the first complete genome for the common marmoset, fully resolving regions that were previously missing: centromeres, acrocentric short arms, and more. A new reference genome for anyone working with marmosets. This was an awesome collaborative effort & I’m grateful to all my co-authors! 🧬

Myloasm, our long-read metagenome assembler, is now published! w/ @mgmarin.bsky.social and @lh3lh3.bsky.social Very rewarding after > a year of development and countless hours thinking about assembly. Thanks to beta testers, Li lab, and reviewers who gave very helpful feedback. rdcu.be/famFj

Finally is the paper where we present the unique genomic architectures of the Arctic codfishes out!! Nice work by @gadus-sivus.bsky.social and co-authors … @biovitenskap.bsky.social @unioslo-cees.bsky.social link.springer.com/article/10.1...

Recently amplified gene arrays are a super interesting phenomenon, but many still resist our attempts to assemble them. @dantipov.bsky.social has developed a new method (Trivial Tangle Traverser) that resolves assembly graph tangles caused by such sequences (1/4) www.biorxiv.org/content/10.6...

AlphaFold database has entered the era of complexes. Together with NVIDIA, DeepMind and EBI, we use ColabFold, OpenFold and MMseqs2-GPU to predict ~31 million complexes (homo & hetro-dimers) resulting in 1.8 million high-quality predictions 📄 research.nvidia.com/labs/dbr/ass... 🌐 alphafold.ebi.ac.uk

Level up your #pangenomics game! Workshop, conference & biohackathon in #Memphis, May 11-15, 2026. Join us and get your hands dirty with sequence alignment, explicit and implicit graphs, cutting-edge methods, and AI. Register now! pangenome.github.io/MemPanG26/ #Bioinformatics #MemPanG26

Excited so share our newest study using a single-library HiFi-CiFi approach to generate chromosome-scale diploid assemblies of two vole genomes, identifying putative drivers of divergent pair-bonding behavior, namely a prairie-vole-specific duplication of Avpr1a gene, led by @mabuelanin.bsky.social

Congratulations, @vikramshivakumar.bsky.social!

Remembering Phil Bourne. Personal reflections on a legendary scientist, leader, builder, and mentor. blog.stephenturner.us/p/rememberin...

Congrats Duilio on discovering the 1st Toxin-Antidote system in vertebrates! 🎉He single-handedly established the embryo project in my lab!👍

We're excited to announced that our 2nd Annual QMUL Centre for Epigenetics Conference is happening on June 18th, 2026 at Mile End! To find out more and book your ticket, please follow this link: www.qmul.ac.uk/epigenetics/... The deadline to book your tickets is Monday, June 8th 2026.

explorers at the farthest reaches of our knowledge 🤩 neuronal ribosomes, and their mysterious rRNA expansion segments immense story from the dream team @andschwarz.bsky.social & @muellermara.bsky.social in the @erin-schuman.bsky.social lab at @mpibrain.bsky.social ribosome structure♥️neurons

new reference genomes for Plasmodium ovale wallikeri and Plasmodium malariae (& Pf too) direct from blood taken from children carrying these parasites -- this was done with as little as 2 ng of DNA. all sorts of craziness going on in the subtelomeric regions ...

Abstract submissions are open, and the program will be largely driven by the submissions! If you're on the east coast for Biology of Genomes, this will be a fun few day jaunt to CT afterwards. Bonus- if you drive from Long Island, the ferry is a ton of fun!

JAX Long-Read Sequencing Workshop Keynotes by @aphillippy.bsky.social & @mydennis.bsky.social Co-organized by @olgaanczukow.bsky.social, @christinebeck.bsky.social & Mark Adams ✈️ Trainee travel awards 📝 Abstracts due March 3 🥼 Optional wet-lab training session 🔗 www.jax.org/education-an...

Have thoroughly enjoyed my collaborations with Andrea! Check out his shiny new lab & homepage!

This was such a fun project. Adam's thread on it is a great summary!

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]

It has been two weeks since the unexpected death of Peer Bork, and all of us in his research group are deeply missing him. His scientific vision brought us together as a team, and we are immensely grateful for the time we spent together. 🧵

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

Pregnancy loss is common in humans, and chromosomal abnormalities are the leading cause. Using genetic data from ~140,000 IVF embryos, we show that maternal variation in meiosis genes influences recombination and aneuploidy risk. First authors: @saracarioscia.bsky.social & @aabiddanda.github.io