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Hi-C As A New Tool For Precise Detection And Characterization Of Chromosomal Rearrangements And Copy Number Variation In Human Tumors

ABSTRACT: Chromosomal rearrangements are prevalent events in the human population, occurring both constitutionally in the general population and somatically in the majority of cancers. Detection of balanced rearrangements, such as reciprocal translocations and inversions, is troublesome with many rearrangements remaining undetected. This is particularly detrimental in oncology where rearrangements play diagnostic and prognostic roles and can influence choice and efficacy of treatment protocols. New methods to detect and characterize balanced rearrangements are therefore required for both research and clinical applications. Here we describe the use of the chromosome conformation capture derived method Hi-C as a tool for detection of both balanced and unbalanced chromosomal rearrangements in cell lines and human tumor samples, with the ability to detect gene fusions and define chromosomal breakpoints to base pair resolution. In addition, we show that copy number information can also be obtained from the same data, allowing rearrangements, gains, amplifications and deletions of genomic regions to be detected in a single experiment.

ORGANISM(S): Mus musculus Homo sapiens

PROVIDER: GSE81879 | GEO | 2017/05/23

SECONDARY ACCESSION(S): PRJNA322837

REPOSITORIES: GEO

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