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The X chromosome from telomere to telomere: key achievements and future opportunities.

Edith HeardAlexander D JohnsonJan O KorbelCharles LeeMichael Paul SnyderDavid Sturgill
Published in: Faculty reviews (2021)
While the human genome represents the most accurate vertebrate reference assembly to date, it still contains numerous gaps, including centromeric and other large repeat-containing regions - often termed the "dark side" of the genome - many of which are of fundamental biological importance. Miga et al . 1,2 present the first gapless assembly of the human X chromosome, with the help of ultra-long-read nanopore reads generated for the haploid complete hydatidiform mole (CHM13) genome. They reconstruct the ~3.1 megabase centromeric satellite DNA array and map DNA methylation patterns across complex tandem repeats and satellite arrays. This Telomere-to-Telomere assembly provides a superior human X chromosome reference enabling future sex-determination and X-linked disease research, and provides a path towards finishing the entire human genome sequence.
Keyphrases
  • endothelial cells
  • dna methylation
  • induced pluripotent stem cells
  • genome wide
  • pluripotent stem cells
  • high resolution
  • mass spectrometry
  • high density
  • cell free
  • simultaneous determination