The first draft of the human genome turns 25 today! 🎂
On 26 June 2000, the UK & US announced the first full map of the 3 billion DNA base pairs that make us human.
🌍 A milestone for humanity, powered by global collaboration.
www.youtube.com/watch?v=pnWA...
#HumanGenome #ScienceHistory 🖥️🧬
YouTube video by European Bioinformatics Institute - EMBL-EBI
Finally, huge congratulations to the amazing team behind this work! 👏
EMBL-EBI
Highlighting two manuscript additions:
1. Data ablation (Supp. Fig 12): RNA-seq + ATAC/DNase proved essential for key evals. h/t @anshulkundaje.bsky.social for the suggestion!
2. Variant Analysis: We found evidence to upgrade a 3’ UTR VUS from Ellingford et al 2022 to "likely pathogenic."