Telomere-to-telomere de novo assembly from standard ONT reads (LSK114, Simplex). A really exciting advance—makes high-quality assembly practical for population-scale sequencing! Preprint from Haoyu Cheng, Heng Li and colleagues biorxiv.org/content/10.110…

Awesome paper. Simple post-hoc trick (averaging over homologs) with elegant evolution theory dramatically improves zero shot coding variant effect prediction in pLMs & actually delivers better results from the larger models (inverting the trend with raw likelihoods). 1/

New preprint in collaboration with Paulina Nuñez-Valencia supervised by Jonathan Frazer and Mafalda Dias! See also a thread on the work here: bsky.app/profile/cwjpug…

*New Open-Access Long Read Resource*. We sequenced 1,019 genomes from the 1000 Genomes Project sample cohort using Oxford Nanopore. Sequencing data is available at bit.ly/4m8dlE2. EMBL Heinrich-Heine-Universität Düsseldorf IMP Centre for Genomic Regulation (CRG) nature.com/articles/s4158… [1/8]