期刊
NATURE BIOTECHNOLOGY
卷 36, 期 4, 页码 321-+出版社
NATURE PORTFOLIO
DOI: 10.1038/nbt.4109
关键词
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资金
- NHGRI [HG007827]
- Keck Foundation [DT06172015]
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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