Linear assembly of a human centromere on the Y chromosome

Abstract

Repeat regions in the human Y chromosome centromere are assembled using long-read nanopore sequencing. 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.