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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Repository DOI
Type
Article
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Authors
Harewood, Louise https://orcid.org/0000-0002-6398-6714
Kishore, Kamal https://orcid.org/0000-0002-4650-8745
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
1474-760X
Volume Title
18
Publisher
Springer Nature
Publisher DOI
Sponsorship
Cancer Research UK (C14303/A17197)