The following excerpt is from an article in the October 10, 2009 edtion of Life Scientist out of Australia. Honestly, it’s beyond me, but I bet some of you folks understand all this completely…
An international team of researchers has described the finest map of changes to the structure of human genomes
as a resource for researchers worldwide to look at the role of these changes in human disease.
They also identify 75 ‘jumping genes’ – regions of our genome that can be found in more than one location in some individuals.
However, the team cautions that they have not found a large numbers of candidates that might alter susceptibility to complex diseases such as diabetes or heart disease among the common structural variants. They suggest strategies for finding this ‘dark matter’ of genetic variation.
Human genomes differ because of single-letter variations in the genetic code and also because whole segments of the code might be deleted or multiplied in different human genomes. These larger, structural differences are called copy number variants (CNVs).
The new research to map and characterise CNVs is of a scale and a power unmatched to date, involving hundreds of human genomes, billions of data points and many thousands of CNVs.
