I was one of the Editorial Board Members at @gigascience.bsky.social who resigned from the Editorial Board. 🧪 🔓 ⬇️ retractionwatch.com/2025/11/03/d...

My former mentor, colleague, and friend Hamilton Smith passed away this week. He was a giant in science, a Nobel Laureate, but also one of the nicest people you could ever meet. He will be missed by many. www.jcvi.org/media-center...

About half the GigaScience editorial board (incl me) just resigned (academic.oup.com/gigascience/... is not yet updated). I resigned because it is very unclear what is happening and why - see @scedmunds.bsky.social blog post gigasciencejournal.com/blog/and-its..., for eg

1/ WashU research news; excited to share our new paper on Chromosome 9p Syndromes 🧬 Hope you take the time to read it. Here is the link: link.springer.com/article/10.1... @washugenetics.bsky.social

I am hiring! - looking for a Staff Scientist to co-run my research group with me. Staff Scientist is a senior professional scientist role at EMBL. Please forward to people you might know who could be interested! embl.wd103.myworkdayjobs.com/en-US/EMBL/j...

We investigated Constellation from Illumina @bcmhgsc.bsky.social for rare disease cases @gregor-research.bsky.social from @bcmhouston.bsky.social. We tested HG002-4 & sequenced 21 families. We could detangle complex SV & other interesting findings described here: www.medrxiv.org/content/10.1...

Read the preprint here with all the details, plus lots of other long-read powered analysis! www.medrxiv.org/content/10.1...

The T2T zebra finch genome has hatched! 🐣 🧬 @vertebrategenomes.bsky.social

For those interested in #Indigenous #Genomics and #ASHG25 in Boston, here are some interested posters/talks/events coming out of the Tsosie Lab, @nativebio.bsky.social, and @d4itdr.bsky.social. For those looking for Friday plans, attend our Ancillary Event, debuting a #Tribal #data repository!

Out today via @natgenet.nature.com, the first federally funded #Tribal #data repository, a revolutionary approach to data management and applied/operationalization of IDSov @d4itdr.bsky.social. Also, if you are at #ASHG25, come see us this morning in 205ABC www.nature.com/articles/s41...

actually it reminds me more of finding 1000s of human contaminants annotated as proteins within draft bacterial genomes in GenBank, which we published in 2018 (and @aphillippy.bsky.social knows this work): pubmed.ncbi.nlm.nih.gov/31064768/

A telomere-to-telomere map of somatic mutation burden and functional impact in cancer https://www.biorxiv.org/content/10.1101/2025.10.10.681725v1

Excited to share our new paper on predicting gene expression in yeast! We introduce "Shorkie," a supervised ML model that builds off a self-supervised foundation to interpret regulatory DNA. Preprint: www.biorxiv.org/content/10.1...

In honor of ASHG week (since I won’t be there), see "Choose your human genome reference wisely", in which Vivien Marx interviewed me @fergalmartin.bsky.social @lh3lh3.bsky.social @danrdanny.bsky.social @heidirehm.bsky.social and others on the state of the human reference rdcu.be/eJejg 🧵[1/10]

Now Hiring! Whitney Laboratory Assistant/Associate Professor in Marine Bioscience Apply & More Info - explore.jobs.ufl.edu/en-us/job/53... We seek a creative, collaborative scientist whose research harnesses or advances cutting-edge tools. Please help spread the word & reach out with any questions!

Big news! We're hiring lots of new faculty here at the University of Virginia School of Data Science @uvadatascience.bsky.social! You can find all our postings here: datascience.virginia.edu/faculty-jobs

🚨 New paper alert on telomeres! 🚨 Something different from the group! Thanks to Yuxin, a talented student in the lab, we used long-reads in 75 human trios to study telomeres and their inheritance.

Last week we were in the Washington Post for our characterization of Robertsonian chromosomes. This week we are entering our 10th day of being shut down and all of our research is on hold. To help me feel not-so-bad, here is a thread of some studies we released right before the shutdown 🧵 [1/n]...

Now that I'm settled in at @umasschan.bsky.social, I'm hiring at all levels: grad students, post-docs, and software engineers/bioinformaticians! The goal of my lab is to understand the regulatory role of every nucleotide in our genomes and how this changes across every cell in our bodies.

And it's posted! If you're interested and eligible, please consider applying through the UMD portal: umd.wd1.myworkdayjobs.com/en-US/UMCP/j.... If you're a PI working in algorithmic genomics (& you can recommend my lab to your top graduating students ;P), please let them know!

Read ‘Sperm sequencing reveals extensive positive selection in the male germline’ from @sangerinstitute.bsky.social and collaborators in @nature.com below: nature.com/articles/s41...

I’m pleased as punch to share our hot off the presses article in @ajhgnews.bsky.social : A scalable approach for genomic-first rare disorder detection in a healthcare-based population Also presenting next week at #ashg25 #ashg2025 www.cell.com/ajhg/abstrac...

How Robertsonian chromosomes can lead to miscarriage or trisomy explained in one great figure from Human Molecular Genetics (Strachan and Read) that I have referred to many times

🚂 The T2T train keeps rolling: "The formation and propagation of human Robertsonian chromosomes" with Gerton and Garrison labs is out! What's a Robertsonian chromosome? Let Jen tell you herself in this great video, or read our paper: [1/3] 📺 youtu.be/JmlY5omxQVc 📄 www.nature.com/articles/s41...

New blog post! metaMDBG (@gaetanbenoit.bsky.social) and Myloasm (@jimshaw.bsky.social) have had recent releases, so I updated the benchmarks from the Autocycler paper: rrwick.github.io/2025/09/23/a... Both tools improved considerably! Time to update your conda environments 😄

More from HG002: This figure shows the incredible progress of de novo assembly over the past 5 years. Ash1 was a good "collapsed haplotype" assembly from 2020. Now we have single-tech solutions (ONT 6B4) that can produce nearly perfect diploid assemblies out of the (HERRO/Verkko) box 🤯

A couple editorial notes: (1) Element is Aviti UltraQ, ILMN is NovaSeq PCR-Free. (2) This is showing *per read* accuracy, which doesn't capture the randomness of the errors. Random (uniform) errors are better, but we couldn't decide on a metric for showing this. Suggestions welcome

Check this out! This is a big deal and helps lead the way for how we should think about analyzing genomes.

Delighted to finally announce a preprint describing the Q100 project! “A complete diploid human genome benchmark for personalized genomics” For which we finished HG002 to near-perfect accuracy: www.biorxiv.org/content/10.1... 🧵[1/14]

hey bluesky 👋 visa hurdles mean I’m looking for opportunities outside the US. I’m a computational biologist (bacterial + phage genomics, postdoc in Koonin’s group @ NIH). I am interested in teaming up on funding apps. reach out if this resonates!

New blog post – A quick look at Roche's SBX lh3.github.io/2025/09/11/a...

How many chromosomes can an animal have? In our paper out now in @currentbiology.bsky.social we show that the Atlas blue butterfly has 229 chromosome pairs- the highest in diploid Metazoa! These arose by rapid autosome fragmentation while sex chromosomes stayed intact. www.cell.com/current-biol...

More youtube videos coming soon to www.youtube.com/BenLangmead! New recording setup. I've got a couple videos in the editing phase and hope to keep up a rhythm of 1 new video per week.

Preprint out for myloasm, our new nanopore / HiFi metagenome assembler! Nanopore's getting accurate, but 1. Can this lead to better metagenome assemblies? 2. How, algorithmically, to leverage them? with co-author Max Marin @mgmarin.bsky.social, supervised by Heng Li @lh3lh3.bsky.social 1 / N

Please take a moment to tell us how you use the Genome Browser: surveymars.com/q/mnb... Your feedback supports future improvements and our continued funding.

Now published in GigaScience with minor improvements: academic.oup.com/gigascience/... * Download: zenodo.org/records/1490... * More info: github.com/lh3/panmask

What a figure!

🌎👩‍🔬 For 15+ years biology has accumulated petabytes (million gigabytes) of🧬DNA sequencing data🧬 from the far reaches of our planet.🦠🍄🌵 Logan now democratizes efficient access to the world’s most comprehensive genetics dataset. Free and open. doi.org/10.1101/2024...

📢🚨📢🚨 Genome Informatics deadline extended to September 8! meetings.cshl.edu/meetings.asp.... Please spread the word. If you are like me and had at least one abstract that wasn't quite ready by last week's deadline, you get another swing. See you there!

From @jxtxfoundation.bsky.social | JXTX + CSHL 2025 Genome Informatics Scholarships | Up to $750 for domestic or $1,250 for international travel | Application deadline is September 15, 2025 | #OpenScience 🧬 🖥️ 🧪 ⬇️ jxtxfoundation.org/news/2025-6-...

📅 Registration is now open for the VGP in-person conference!

#zebrafish genome update, our T2T assembly of the inbred strain of AB (M-AB) generated by my buddy Nori Sakai has now been released at NCBI and will be a second reference genome for zebrafish (GRCz12ab):

The Sudmant lab at UC Berkeley is seeking a postdoc to work on a fully funded NIH project to understand differences in DNA repair and somatic mutation across the primate tree of life. Please spread widely to those who may be interested aprecruit.berkeley.edu/JPF05052

taxburst v0.3.0 is now released - this is an update of the Krona visualization system for microbiome/metagenome taxonomy analyses. Enjoy!

🚨 Our parent-of-origin study is out in Nature! 🧬 Maternal and paternal alleles can have distinct — even opposite — effects on human traits, revealing a hidden layer of genetic architecture that standard GWAS miss. 🔗 www.nature.com/articles/s41... Highlights below!

Pospelova et al. present a comparative analysis of full-length sequences of IG/TR loci across 46 mammalian species, demonstrating these as rapidly evolving genomic regions, with implications for immunogenomics. 🔗 doi.org/10.1093/molbev/msaf152 #evobio #molbio

📣 New preprint 📣 We present a detailed map of nascent and mature ribosomal RNAs in mouse hematopoiesis and AML (including absolute rRNA molecule numbers), and outline principles of rDNA regulation. Work by Eleanor Sams (@eleanor44.bsky.social) & Victoria Feist (@victoriafeist.bsky.social). (1/x)

After 10 years of work, a complete telomere-to-telomere gap-free genome for C. elegans finally exists: it has 106 Mb rather than the textbook 100.3 Mb, and up to 366 additional genes. genome.cshlp.org/content/35/8...

It's exciting to see the continuing legacy of T2T sequencing methods being discussed on @scifri.bsky.social ! 🧬 Complete genomes are helping us understand more and more about genetic function and diversity in areas of our DNA that were unreadable just a few years ago.

This was both fun and terrifying to tape! Awesome to talk with @glennislogsdon.bsky.social and @aphillippy.bsky.social about our sequencing data / paper, the improvements to large-scale sequencing projects, and what this means for our understanding of our DNA!