Diverse mice sequenced with long reads identifies structural variation across substrains and chromatin remodeling by transposable elements. https://t.co/Mm1j9L68HA
PAV is now containerized and available on Dockerhub (becklab/pav) and the Singularity container lib (library://becklab/pav/pav). https://t.co/g9OIZ7cBR2
Inversions with Strand-seq + long reads, recurrence, and disease associations, and community resource. Congrats @PorubskyDavid , @HopsWolfram , and Hufsah Ashraf.
https://t.co/H5uji0SDJa
@mjpchaisson I’ve been getting cramps in the intercostal muscles for years causing significant chest pain. Still happens with stress, caffeine, and lack of sleep. I think it’s pretty common, but scared me when it started happening.
I am presenting today at #ASHG21 (10:45 ET). PAV: Long-read variant detection including SVs, small variants, and cryptic inversions. We, #HGSVC, are generating high-quality phased genomes to resolve variants and structure inaccessible until now.
https://t.co/B3cDi6rK4B
On this day in 1681, The Duke of Albemarle founds boxing putting his butler and butcher up to a fight, Charles II gives Pennsylvania to William Penn, Mehmed IV rules the Ottoman empire, and Bjarne Stroustup invents C++.
Excited to finally share: Segmental duplications and their variation in a complete human genome! This is a product of an awesome collaboration in the T2T consortium and I am thrilled to be sharing the SD side of this story. https://t.co/1jAqkheNba
This is truly amazing work that will have broad impacts on the way we sequence, assemble, and analyze genomes in the future. Happy to have been a part of it!
Strand-seq+HiFi = haplotype-resolved assemblies of single samples (ie. no parents data), N50>25Mbp, QV>40 (checked from BACs). Big thanks to an awesome team of co-authors: David Porubsky, Peter Ebert, @peteraudano, @mrvollger, @EichlerEE, and many more...
The Telomere-to-Telomere consortium is proud to announce our v1.0 release of a complete human genome. When @khmiga asked me to team up on this a few years ago, I wasn't sure it would be possible. Now down to just 5 gaps. What a journey! Read more here https://t.co/OrtRB0eSpc