Harewood, L;
Kishore, K;
Eldridge, MD;
Wingett, S;
Pearson, D;
Schoenfelder, S;
Collins, VP;
(2017)
Hi-C as a tool for precise detection and characterisation of chromosomal rearrangements and copy number variation in human tumours.
Genome Biology
, 18
, Article 125. 10.1186/s13059-017-1253-8.
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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.
| Type: | Article |
|---|---|
| Title: | Hi-C as a tool for precise detection and characterisation of chromosomal rearrangements and copy number variation in human tumours |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1186/s13059-017-1253-8 |
| Publisher version: | https://doi.org/10.1186/s13059-017-1253-8 |
| Language: | English |
| Additional information: | This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ |
| Keywords: | Science & Technology, Life Sciences & Biomedicine, Biotechnology & Applied Microbiology, Genetics & Heredity, Hi-C, Chromosome conformation capture, Cancer, Tumour, Glioblastoma, Anaplastic astrocytoma, Chromosome rearrangement, Copy number variation, BASE-PAIR RESOLUTION, STRUCTURAL VARIATION, SEQUENCING DATA, CANCER GENOMES, SOLID TUMORS, GLIOBLASTOMA, TRANSLOCATIONS, CONFORMATION, REGIONS, BIOLOGY |
| URI: | https://discovery-pp.ucl.ac.uk/id/eprint/10047529 |
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