A complete human genome; plus prime and base editing progress, COVID boosters

In a Science special issue, the Telomere-to-Telomere (T2T) Consortium revealed the remaining 8% of the human genome, including 99 predicted protein coding genes, that was left unresolved in the 2013 reference genome created via the Human Genome Project. Dubbed T2T-CHM13, the complete sequenced genome includes gapless telomere-to-telomere assemblies for each chromosome, comprising 3,054,815,472 base pairs of nuclear DNA plus a 16,569-base pair mitochondrial genome.

The updated reference genome allowed researchers to identify new single-nucleotide and structural variants, discern the organization and regulation of duplicated genes, explore the repeat content of the human genome, and perform epigenetic profiling across duplicated and repetitive portions of the genome including centromeres...