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Linear assembly of a human centromere on the Y chromosome

Publication

Date: 19th March 2018 | Source: Nature Biotechnology

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.

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.

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