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Hi-C as a tool for precise detection and characterisation of chromosomal rearrangements and copy number variation in human tumours

Published version
Peer-reviewed

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Authors

Eldridge, MD 
Wingett, S 
Pearson, D 

Abstract

Chromosomal rearrangements occur constitutionally in the general population and somatically in the majority of cancers. Detection of balanced rearrangements, such as reciprocal translocations and inversions, is troublesome, which is particularly detrimental in oncology where rearrangements play diagnostic and prognostic roles. Here we describe the use of Hi-C as a tool for detection of both balanced and unbalanced chromosomal rearrangements in primary human tumour samples, with the potential to define chromosome breakpoints to bp resolution. In addition, we show copy number profiles can also be obtained from the same data, all at a significantly lower cost than standard sequencing approaches.

Description

Keywords

Anaplastic astrocytoma, Cancer, Chromosome conformation capture, Chromosome rearrangement, Copy number variation, Glioblastoma, Hi-C, Tumour, Chromosome Aberrations, Chromosome Breakpoints, Chromosome Inversion, DNA Copy Number Variations, Humans, In Situ Hybridization, Fluorescence, Neoplasms, Translocation, Genetic

Journal Title

Genome Biology

Conference Name

Journal ISSN

1474-7596
1474-760X

Volume Title

18

Publisher

Springer Nature
Sponsorship
Cancer Research UK (C14303/A17197)