Why mutation analysis does not always predict clinical consequences: explanations in the era of genomics

CR Scriver - The Journal of Pediatrics, 2002 - jpeds.com
Metaphors describe how we can think about our genome. Some call it a “book of life.”
Although there are many other analogies, most do not address the fact that the majority of
genomic nucleotide sequences lie in what has been called “the genomic outback,” or “the
intergenic wilderness”; their function has yet to be revealed beyond the promoters,
enhancers, and other elements that sparsely populate the wilderness. A recent and more
useful metaphor likens the genome of each one of us to a “social collective whose DNA …