Cold Spring Harbor, NY - In cancer cells, genetic errors wreak havoc.
Misspelled genes, as well as structural variations -- larger-scale rearrangements of DNA that can encompass large chunks of chromosomes -- disturb carefully balanced mechanisms that have evolved to regulate cell growth.
Genes that are normally silent are massively activated and mutant proteins are formed.
This week, scientists at Cold Spring Harbor Laboratory (CSHL) have published in Genome Research one of the most detailed maps ever made of structural variations in a cancer cell's genome.
The map reveals about 20,000 structural variations, few of which have ever been noted due to technological limitations in a long-popular method of genome sequencing.
When the results are interpreted with two sophisticated software packages recently published by the team, two advantages are evident: long-read sequencing is richer in terms of both information and context.