Linear assembly of a human centromere on the Y chromosome

Nat Biotechnol. 2018 Apr;36(4):321-323. doi: 10.1038/nbt.4109. Epub 2018 Mar 19.


The human genome reference sequence remains incomplete owing to the challenge of assembling long tracts of near-identical tandem repeats in centromeres. We implemented a nanopore sequencing strategy to generate high-quality reads that span hundreds of kilobases of highly repetitive DNA in a human Y chromosome centromere. Combining these data with short-read variant validation, we assembled and characterized the centromeric region of a human Y chromosome.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Centromere / genetics*
  • Chromosomes, Human, Y / genetics*
  • Genome, Human / genetics
  • High-Throughput Nucleotide Sequencing*
  • Humans
  • Nanopores
  • Repetitive Sequences, Nucleic Acid / genetics
  • Tandem Repeat Sequences / genetics*