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Had so much fun writing this small review with Nicolas Lou and Peter Sudmant about structural variation in primates in the era of T2T genomes and pangenomics :) sciencedirect.com/science/articl…

looking forward to this paper on 6 great ape genomes, "great" in both the traditional sense and for assembly quality. From Adam Phillippy EichlerLab Arang Rhie et al; just finished the first 3 pages which means I'm at the end of the author list! 🤣 biorxiv.org/content/10.110…

Haplotype-resolved 6 great ape genomes using PacBio WGS + Iso-Seq for genome annotation. 215 gapless T2T chromosomes. Comparative analysis show higher divergence in centromere, telomere, aceocentric, SDs, 5- to 15-fold difference. ~40-45% of gorilla & orangutan genomes are

Exciting news! The ape T2T team just finished the full sequencing of chimpanzee, bonobo, gorilla, Bornean and Sumatran orangutan, and siamang genomes providing new evolutionary insights into previously uncharacterized regions. Check it out: biorxiv.org/content/10.110…

Now on bioRxiv! Deep sequencing of a four-generation, 28-member family (CEPH 1463) using multiple sequencing technologies provides an important resource to study transmission of all classes of genetic variation. biorxiv.org/content/10.110…

New preprint from our lab 🚨 We explored the variability in ribosomal DNA copy number and activity across humans of the world with Jennifer Gerton Paxton Kostos Andrea Guarracino Steven Solar Erik Garrison Adam Phillippy and others not on X biorxiv.org/content/10.110… 🧵

I am going on the faculty job market this year, so if your home department is starting a search, I'd love to hear about it. Thanks!

BREAKING NEWS The Royal Swedish Academy of Sciences has decided to award the 2024 #NobelPrize in Chemistry with one half to David Baker “for computational protein design” and the other half jointly to Demis Hassabis and John M. Jumper “for protein structure prediction.”

Kudos to my outstanding team for developing genomic and epigenomic maps of mouse satellite regions (centromeres and pericentromeres), which account for ~11% of the mouse genome. Very excited to share the preprint. biorxiv.org/content/10.110…

nytimes.com/2024/10/17/sci… Nice writeup from Carl Zimmer on our amylase paper published in Nature nature.com/articles/s4158… and lovely work from ゴカマン published today in Science science.org/doi/10.1126/sc…

If you study centromeres and are interested in finding and visualizing the hypomethylated pockets where the kinetochore locates, check out CDR-Finder! The only inputs you need are a methyl-alignment, the centromere coordinates and your sample's assembly! biorxiv.org/content/10.110…

Centrophilic retrotransposon integration via CENH3 chromatin in Arabidopsis nature from Tetsuji Kakutani & colleagues - beautiful insights into control of transposon insertion into the centromeres nature.com/articles/s4158…

A single genomic reference can't capture the full spectrum of genetic variation. By building a pangenome that reflects real genetic variation, HPRC is reducing biases and paving the way for more accurate research in health and medicine.

I’m excited to share that our work on the macaque T2T genome and its insights into evolutionary medicine has been published in nature) This study (nature.com/articles/s4158…) focuses on the unique features of macaques and sheds light on how SVs impact brain evolution in primates.

Computational analysis of DNA methylation from long-read sequencing. #DNA #Methylation #LongRead #Sequencing #Genomics Nature Reviews Genetics nature.com/articles/s4157…

New preprint on hifiasm (ONT)! We can now achieve near T2T human genome assembly using only ONT Simplex reads—in just half a day, with or without ultra-long sequencing. biorxiv.org/content/10.110…

Our Nature paper (rdcu.be/ei1NM) deep sequencing a 4-generation, 28-member family using multiple sequencing technologies to study transmission of all classes of genetic variation is out! Evan Eichler UW Genome Sciences HHMI

The Public Welfare Medal is about to be presented to Mary-Claire King for her pioneering genetic research and its transformative application to human rights. 🧬🏅#NAS162 #NASaward #genetics Don't miss her speech! ow.ly/Cznu50VIsiC

Congratulations to Glennis Logsdon (Penn Genetics/ Penn Epigenetics) on being named a 2025 Searle Scholar! tinyurl.com/ma4sp577

📢 HPRC Release 2 is here! Now with phased genomes from 200+ individuals, a 5x increase from Release 1. Explore sequencing data, assemblies, annotations & alignments in our interactive data explorer ⬇️: humanpangenome.org/hprc-data-rele…