Journal
NATURE BIOTECHNOLOGY
Volume 38, Issue 11, Pages 1309-+Publisher
NATURE PORTFOLIO
DOI: 10.1038/s41587-020-0582-4
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CentroFlye resolves tandem repeats to assemble human centromeres from nanopore reads. Centromeric variation has been linked to cancer and infertility, but centromere sequences contain multiple tandem repeats and can only be assembled manually from long error-prone reads. Here we describe the centroFlye algorithm for centromere assembly using long error-prone reads, and apply it to assemble human centromeres on chromosomes 6 and X. Our analyses reveal putative breakpoints in the manual reconstruction of the human X centromere, demonstrate that human X chromosome is partitioned into repeat subfamilies and provide initial insights into centromere evolution. We anticipate that centroFlye could be applied to automatically close remaining multimegabase gaps in the reference human genome.
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