🧬New from @ahoischen.bsky.social & co!
📄HiFi sequencing accurately identifies clinically relevant variants in paralogous genes
Long-read HiFi genome sequencing combined with Paraphase enables comprehensive detection
of all clinically relevant variant types in paralogous genes. It resolves “dark” regions
while enabling haploty...
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...
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...
🧵👇
Complete, haplotype-resolved genome assemblies have provided unprecedented insight into the evolution of structurally complex, rapidly evolving regions of human genomes; however, population-scale pang...
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
The American Journal of Human Genetics
KamilSJaron.bsky.social
Now published: journals.plos.org/plosbiology/...
Joana L. Rocha
Mutation rates per generation are strikingly similar across germlines of animals and across at least one somatic cell type, suggesting a key role for natural selection in shaping mutation rates. This ...
🦋🌿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...
Ben Langmead
Molly Przeworski
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!
Earth BioGenome Project 🌍
Happy to highlight an essay I wrote together with @marcdemanuel.bsky.social,
@natanaels.bsky.social and Anastasia Stolyarova, trying to think through what sets the mutation rate of a cell type in an animal species: www.biorxiv.org/content/10.6... 1/n
Germline mutation rates per generation are strikingly similar across animals, despite vast differences in life histories. Analogously, in at least one somatic cell type, mutation rates at the end of l...
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 🎉
