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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… Click to show full abstract
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.
Keywords:
human centromere;
linear assembly;
centromere chromosome;
assembly human
Journal Title: Nature Biotechnology
Year Published: 2018
Link to full text (if available)
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Journal Title: Nature Biotechnology
Year Published: 2018
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!