NHGRI is recruiting genomics oriented researchers through the Stadtman mechanism. It is also open to any kind of research, the goal is to match your interests to an institute. The applications are now open until Oct. 1st. Details below:
Adam Phillippy
@aphillippy.bsky.social
Finished a human genome @ NHGRI, working on a few hundred more @ Johns Hopkins University 👨💻 Lab: https://genomeinformatics.github.io
🧬 The VGP Phase I preprint is out! 🎉 The Vertebrate Genomes Project has completed Phase I, delivering 816 of the highest-quality vertebrate reference genomes ever produced. Explore this major new resource for vertebrate genomics: 📄 tinyurl.com/VGPphase1 @vertebrategenomes.bsky.social #Genomics
"Filling the holes in whole genomes: A vision for personalized genomics from telomere to telomere" Brief commentary from me, @khmiga.bsky.social, @msikic.bsky.social, Yu Kang and Yafei Mao for the T2T special issue. Why do we need complete genomes? Check it out! www.cell.com/cell/fulltex...
new preprint from our group led by Talleh Almelli -- important for folks doing single cell on malaria parasites or other organisms with hyperdiverse gene families. www.biorxiv.org/content/10.6...
Evaluating the impact of a sample-matched reference genome on single-cell transcriptomic inferences in Plasmodium falciparum
Background Plasmodium falciparum field isolates exhibit genomic variation, including copy number variation and sequence divergence. In contrast, the P. falciparum 3D7 reference genome (Pf3D7) was deri...
biorxiv.org
New issue alert👉https://cell.com/cell/current On the cover: The Telomere-to-Telomere Consortium has finished the complete, diploid genome of a person. The cover is inspired by a karyotype of the chromosomes in metaphase, representing the two haplotypes as different colors.
We are excited to officially share the first fully phased telomere-to-telomere (T2T) reference genome for a songbird! 🐦 www.cell.com/cell/fulltex...
📣😮BIG release in @cellpress.bsky.social today!!! When @khmiga.bsky.social and @aphillippy.bsky.social led the completion of a single human genome in 2022, it was a milestone. Completing them routinely is a revolution. Welcome to a new era for personalized medicine.
For the past 30 years, “whole-genome sequencing” has been a misnomer. Today the T2T Consortium publishes a dozen papers heralding a future of truly complete genomes for humans and nearly any vertebrate 👨🔬🐒🐦🐀🦒🐎🫏🐹🐟 (sorry, no salamanders): www.cell.com/consortium/t... 🧵[1/15]
#zebrafish genome update. UCSC has added both GRCz12tu and GRCz12ab to the zebrafish pulldown menu making it much easier to find the new assemblies!
Here's a fact that may surprise you. Until recently, nobody had managed to sequence the complete genome of a human being. Then, a landmark paper in 2022 reported end-to-end (telomere-to-telomere) coverage of all chromosomes. The new era of T2T genomics is showcased today in @cp-cell.bsky.social: 🧬🧪👇
Filling the holes in whole genomes: A vision for personalized genomics from telomere to telomere
Two decades after the Human Genome Project, we finally have the ability to read the complete genome of any human and (nearly) any species. These sequences provide the ideal foundation for training pre...
cell.com
I was honoured to make a small contribution to this paper published today in Cell, detailing the first T2T genome assembly of the zebra finch, a crucial model species for neurobiology: tinyurl.com/tguttata
The complete genome of a songbird
Bird genomes are the smallest among amniotes; however, they remain challenging to assemble due to their structural complexity. This study presents a f…
tinyurl.com
We’ve sequenced a marmoset! Grad student @prajnahebbar.bsky.social & @benedictpaten.bsky.social led the effort, and expect it to enable scientists to learn more about genes that contribute to memory loss and Alzheimer's. 🔗https://news.ucsc.edu/2026/08/first-complete-marmoset-genome/
🦒 Fun fact: this is the actual giraffe sequenced! His name is Fenn and he lives at the Cincinnati Zoo. Photo credit: Lisa Hubbard. More Fenn info: cincinnatizoo.org/happy-world-...
For the past 30 years, “whole-genome sequencing” has been a misnomer. Today the T2T Consortium publishes a dozen papers heralding a future of truly complete genomes for humans and nearly any vertebrate 👨🔬🐒🐦🐀🦒🐎🫏🐹🐟 (sorry, no salamanders): www.cell.com/consortium/t... 🧵[1/15]
Come be our colleague. I have been in this Division for 27 years (4 as a postdoc and 23 as a PI). It is an amazing place to work, collaborate, and be inspired. If you are applying to be an Assistant or Associate Professor this Fall, don't miss this deadline.
Join @FredHutch.org's Basic Sciences Division as an Assistant or Associate Professor and help shape the future of fundamental biology. We welcome applicants whose work will complement, extend, or bring new directions to the division.
!!!Reminders!!! Applications due Wed Aug 5 for the @jxtxFoundation scholarships for the @CSHL Biological Data Science conference. Abstracts due Aug 14 for consideration as a talk. #cshldata26 Apply for scholarship: bit.ly/jxtx-biodata26 Conference Info: bit.ly/cshl-biodata26
JXTX + CSHL 2026 Biological Data Science Scholarship
JXTX + CSHL 2026 Biological Data Science Scholarship
bit.ly
Thrilled to post thread re: new single-cell lineage of mouse embryo reconstructed w/ DNA Typewriter. One animal, zygote to late organogenesis (E13.5). Tree has 1,340,794 transcriptionally profiled, annotated tips (cells), 1,142,588 dated internal nodes, rooted at zygote 1/n
1st genome sequenced (Sanger 1977), 1st genome synthesised (Venter 2003), 1st genome + proteome fully mutated (Huijin Xiangua 2026!) @crg.eu @sangerinstitute.bsky.social Complete Mutagenesis of the Genome and Proteome of ΦX174 www.biorxiv.org/content/10.6...
Complete Mutagenesis of the Genome and Proteome of ΦX174
The bacteriophage ΦX174 was the first genome to be sequenced and the first to be chemically synthesised. Here we present a complete map of the consequences of changing every nucleotide in the ΦX174 ge...
biorxiv.org
1/ Excited to share our preprint ImpuT2T: a pangenome-based assembly patching tool ImpuT2T scaffolds draft human assemblies with a pangenome (HPRC2) and patches gaps by leveraging linkage disequilibrium and sequence identity between contigs and reference haplotypes Code: github.com/maojanlin/Im...
ImpuT2T: Pangenome-Based Patching for Human Genome Assemblies
With improvements in sequencing and assembly have come many high-quality telomere-to-telomere assemblies and reference pangenomes. However, the long-read sequencing recipes needed for high quality ass...
biorxiv.org
📢 Genome Informatics 2026 (Hinxton UK + virtual, 2–4 Dec) is coming! Some confirmed speakers now listed: coursesandconferences.wellcomeconnectingscience.org/event/genome... Early-bird registration & bursary deadlines: 7 Sept. Abstract deadline: 5 Oct. Please submit your work & join us!
#zebrafish genome update: So for those of you waiting for RefSeq annotations to hit the GRCz12ab genome, UCSC has generated annotations via BLAST based on the RefSeq RNA's generated for TU.
HPRC2: A human pangenome reference with near-complete coverage of common genetic variation https://www.biorxiv.org/content/10.64898/2026.07.21.739710v1
How did octopuses evolve novel traits? Rishav Mitra, Richard Han, Trey Scott, et al serendipitously discover a unique ribosome adaptation that increases the accuracy of protein synthesis and evolved alongside their elaborate nervous systems vs deep sea relatives. www.biorxiv.org/content/10.6...
🔥 Does switching to a pangenome reference actually improve your association study? We tested it, and the answer is yes, measurably. Our preprint is online now: "Pangenome-based human genome analysis improves trait association and genomic prediction": doi.org/10.64898/202...
Pangenome-based human genome analysis improves trait association and genomic prediction
The Human Pangenome Reference Consortium has generated 462 open-access reference genomes and a variation graph that represents differences among them, providing a substrate for pangenome-based analysi...
doi.org
Senior Bioinformatics Software Developer opening in my team in ONT's Applications department! Hybrid with a few days a week in our Oxford headquarters. We can sponsor visas! www.linkedin.com/jobs/view/44...
Oxford Nanopore Technologies hiring Senior Bioinformatics Software Engineer, Applications in Oxfordshire, England, United Kingdom | LinkedIn
Posted 3:04:10 PM. Job DescriptionOur goal is to bring the widest benefits to society through enabling the analysis of…See this and similar jobs on LinkedIn.
linkedin.com
🚨 MANUSCRIPT ALERT 🚨 The VGP Phase I manuscript pre-print is now live on bioRxiv! 🧬 doi.org/10.64898/202... Over 8 years, the VGP generated reference genomes for more than 800 vertebrate species, spanning ~95% of vertebrate orders and delivering some of the highest-quality genomes ever produced.
Hi everyone! I'm excited to announce that our lab at UW will soon be recruiting a postdoc to work on DNA methylation signatures in rare disease. This will be a mostly computational position. Please share and reach out if interested! millerlaboratory.com
Miller Lab | University of Washington
Led by Danny E. Miller, MD, PhD, the Miller Lab uses long-read Nanopore sequencing to investigate the significance of structural genomic variation, methylation, and RNA in human disease, and to impro...
millerlaboratory.com
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 🔮
Excited to share our ‘perspective’ on significant impact long-read sequencing technologies, genome assemblies and better (AI-assisted) interpretation-tools will bring to our field of medical genetics – as we are entering an era of “near-perfect genome sequencing”. www.nature.com/articles/s41...
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)
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)
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academic.oup.com
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...