Open AccessThe X Chromosome from Telomere to Telomere: Key Achievements and Future Opportunities
Author(s) -
Edith Heard,
Alexander D. Johnson,
Jan Korbel,
Charles Lee,
M Snyder,
David Sturgill
Publication year - 2021
Publication title -
faculty reviews
Language(s) - English
Resource type - Journals
ISSN - 2732-432X
DOI - 10.12703/r-01-000001
Subject(s) - telomere , nanopore sequencing , biology , genome , human genome , genetics , centromere , chromosome , tandem repeat , eukaryotic chromosome fine structure , computational biology , dna , gene
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. 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.