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2017 ; 18
(1
): 125
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Hi-C as a tool for precise detection and characterisation of chromosomal
rearrangements and copy number variation in human tumours
#MMPMID28655341
Harewood L
; Kishore K
; Eldridge MD
; Wingett S
; Pearson D
; Schoenfelder S
; Collins VP
; Fraser P
Genome Biol
2017[Jun]; 18
(1
): 125
PMID28655341
show ga
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.