The last 8% of the human gene has been deciphered
Since its initial release in 2000, the human reference genome
has covered only the euchromatic fraction of the genome, leaving
important heterochromatic regions unfinished. Addressing the
remaining 8% of the genome, the Telomere-to-Telomere (T2T)
Consortium presents a complete 3.055 billion–base pair sequence
of a human genome, T2T-CHM13, that includes gapless assemblies
for all chromosomes except Y, corrects errors in the prior
references, and introduces nearly 200 million base pairs of sequence
containing 1956 gene predictions, 99 of which are predicted to be
protein coding. The completed regions include all centromeric
satellite arrays, recent segmental duplications, and the short arms
of all five acrocentric chromosomes, unlocking these complex
regions of the genome to variational and functional studies.
More details: (
https://bit.ly/36RxVY5)
