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

Recently learned that I will be promoted to FULL PROFESSOR(!) this coming summer. So happy and thankful for those that have supported me along the way, including collaborators, mentors, colleagues, friends, family, trainees, and letter writers. #bighugs #youdabest #firstgen

1,000 PacBio genomes in a prospectively designed clinical utility study. This was the biggest and most important study that made us go live in diagnostics. Long-read genomes as a genetic first tier test across many rare diseases! www.medrxiv.org/content/10.6...

very sad news. Peer Bork was one of the leaders of our field, a wonderful scientist, and he's much too young to be gone. www.embl.org/news/embl-an...

T2T zebrafish annotation drop 🐟

Mitchell is fantastic! Highly recommended!

if you're interested, note that the time is UK time. In the US, that will be 9:00am.

Now published in Nature Biotechnology: go.nature.com/44P7nSm If you missed it, the TL;DR is in my April thread below

Now published in Algorithms for Molecular Biology: link.springer.com/article/10.1.... Key message: a tiny CNN model with 7k parameters can capture main splice signals across vertebrates+insect and halves the minimap2 & miniprot junction error rate. I always use this new feature now.

Haplotype-Resolved Genomics Reveals Conserved Chromatin Architecture and Epigenetic Constraints of Human Neocentromeres https://www.biorxiv.org/content/10.64898/2025.12.23.696241v1

Congratulations, To you, Steven and Prajna. Super cool findings.

I've been thinking about the "virtual cell" concept and wanted to write up a few thoughts. Specifically on how I think the prior experience in GWAS informs the most likely way these models will be useful. andrewcarroll.github.io/2025/12/23/t...

If you’ve heard me talk in the past ~5 years, you will know I have developed an obsession with acrocentric chromosomes. This is all of that, condensed into one paper. I will do a full thread in the new year, but for those that want something to read over the holidays, have at it. Such a cool story!

The registration deadline is fast approaching for probgen 2026! Abstracts due by January 15, registration by January 31 probgen2026.github.io

Human acrocentric chromosome short arm de novo mutation and recombination https://www.biorxiv.org/content/10.64898/2025.12.16.694519v1

Complete genomes of a multi-generational pedigree to expand studies of genetic and epigenetic inheritance https://www.biorxiv.org/content/10.64898/2025.12.14.693655v1