Adam Phillippy

@aphillippy.bsky.social

Finished a human genome @ NHGRI, working on a few hundred more @ Johns Hopkins University 👨‍💻 Lab: https://genomeinformatics.github.io

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:

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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.

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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

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.

Fred Hutch Basic Sciences Division@basicsci.fredhutch.org · last wk.

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.

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

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

🔥 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

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

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.

Ben Langmead@benlangmead.bsky.social · 2mo ago

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)