From cytogenetics to next-generation sequencing technologies: advances in the detection of genome rearrangements in tumors.
Genome rearrangements have long been recognized as hallmarks of human tumors and have been used to diagnose cancer. Techniques used to detect genome rearrangements have evolved from microscopic examinations of chromosomes to the more recent microarray-based approaches. The availability of next-generation sequencing technologies may provide a means for scrutinizing entire cancer genomes and transcriptomes at unparalleled resolution. Here we review the methods that have been used to detect genome rearrangements and discuss the scope and limitations of each approach. We end with a discussion of the potential that next-generation sequencing technologies may offer to the field.
Morozova
Olena
O
BC Cancer Agency Genome Sciences Centre, Suite 100-570 West 7th Avenue, Vancouver, BC V5Z4S6, Canada.
Marra
Marco A
MA
D003582:Cytogenetics / Q000379:methods*; D015321:Gene Rearrangement; D020022:Genetic Predisposition to Disease; D015894:Genome, Human; D006801:Humans; D009369:Neoplasms / Q000235:genetics*; D009693:Nucleic Acid Hybridization / Q000379:methods; D020411:Oligonucleotide Array Sequence Analysis; D016133:Polymerase Chain Reaction / Q000379:methods; D017422:Sequence Analysis, DNA