Linear assembly of a human centromere on the Y chromosome

Nature Biotechnology     Published: 19 March 2018

Abstract:The human genome reference sequence remains incomplete owing to the challenge of assembling long tracts of nearidentical 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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