Linear assembly of a human centromere on the Y chromosome

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.

Authors: Miten Jain, Hugh E. Olsen, Daniel J. Turner, David Stoddart, Kira V. Bulazel, Benedict Paten, David Haussler, Huntington Willard, Mark Akeson, Karen H. Miga