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Linear assembly of a human centromere on the Y chromosome.

Miten JainHugh E OlsenDaniel J TurnerDavid StoddartKira V BulazelBenedict PatenDavid HausslerHuntington F WillardMark AkesonKaren H Miga
Published in: Nature biotechnology (2018)
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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