The rearrangement of genomes in people with lung cancer can be identified using an approach called 'massively parallel sequencing.' The study, published online in Nature Genetics, looked at the genomes of two individuals with lung cancer at a single base pair resolution.
Most of the known genes associated with cancer contribute to disease as part of rearrangements of the genome, often with two genes that are usually separate fusing to generate an abnormal gene product that causes disease. The evidence suggests that there are many such fusions yet to be identified, but current methods generally do a poor job of characterizing such rearrangements at high resolution.
Michael Stratton, Andrew Futreal and colleagues carried out parallel DNA sequencing of both ends of millions of short DNA fragments from two lung cancer cell lines. Those 'read pairs' that did not align correctly with respect to each other on the reference human genome were considered candidate rearrangements. The authors then further characterized these regions by additional sequencing to confirm that they represent genuine rearrangements. A number of newly identified fusion transcripts were found, and the authors anticipate that this method will uncover many more fusions that promote the development of a variety of cancers.
Michael Stratton (Wellcome Trust Sanger Institute, Hinxton, UK)
Andrew Futreal (Wellcome Trust Sanger Institute, Hinxton, UK)
Abstract available online.
(C) Nature Genetics press release.
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