Telomere-to-telomere assembly of a complete human X chromosome.

ABSTRACT: After two decades of improvements, the current human reference genome (GRCh38) is the most accurate and complete vertebrate genome ever produced. However, no single chromosome has been finished end to end, and hundreds of unresolved gaps persist^1,2. Here we present a human genome assembly that surpasses the continuity of GRCh38², along with a gapless, telomere-to-telomere assembly of a human chromosome. This was enabled by high-coverage, ultra-long-read nanopore sequencing of the complete hydatidiform mole CHM13 genome, combined with complementary technologies for quality improvement and validation. Focusing our efforts on the human X chromosome³, we reconstructed the centromeric satellite DNA array (approximately 3.1 Mb) and closed the 29 remaining gaps in

SUBMITTER: Miga KH 

PROVIDER: S-EPMC7484160 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature