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Jain, Miten; Olsen, Hugh E; Turner, Daniel J; Stoddart, David; Bulazel, Kira V; Paten, Benedict; Haussler, David; Willard, Huntington F; Akeson, Mark; Miga, Karen H
Nature biotechnology, 04/2018, Letnik: 36, Številka: 4Journal Article
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.
