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GenomicsNature Biotechnology
Peer-reviewed journal article

Linear Assembly of a Human Y Centromere

Miten JainiD, Hugh E. OlseniD, Dann TurneriD, David Stoddart, Kira V. Bulazel, Benedict PateniD, David H. HaussleriD, Huntington F. WillardiD, Mark A. AkesoniD, Karen H. MigaiD

Abstract

The human genome reference sequence remains incomplete due to the challenge of assembling long tracts of near-identical tandem repeats-in centromeric regions. To address this, we have implemented a nanopore sequencing strategy to generate high quality reads that span hundreds of kilobases of highly repetitive DNAs. Here, we use this advance to produce a sequence assembly and characterization of the centromeric region of a human Y chromosome.

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