Automated assembly of centromeres from ultra-long error-prone reads.

Abstract:

: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.

journal_name

Nat Biotechnol

journal_title

Nature biotechnology

authors

Bzikadze AV,Pevzner PA

doi

10.1038/s41587-020-0582-4

subject

Has Abstract

pub_date

2020-11-01 00:00:00

pages

1309-1316

issue

11

eissn

1087-0156

issn

1546-1696

pii

10.1038/s41587-020-0582-4

journal_volume

38

pub_type

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