Journal article

Ongoing human chromosome end extension revealed by analysis of BioNano and nanopore data

Haojing Shao, Chenxi Zhou, Minh Duc Cao, Lachlan JM Coin

Published : 2017

Abstract

ABSTRACT The majority of human chromosome ends remain incompletely assembled due to their highly repetitive structure. In this study, we use BioNano data to anchor and extend chromosome ends from two European trios as well as two unrelated Asian genomes. BioNano assembled chromosome ends are structurally divergent from the reference genome, including both missing sequence (10%) and extensions(22%). These extensions are heritable and in some cases divergent between Asian and European samples. Six ninths of the extension sequence in NA12878 can be confirmed and filled by nanopore data. We identify two sequence families in these sequences which have undergone substantial duplication in multiple..

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University of Melbourne Researchers