Scientists at deCODE Genetics, in collaboration with scientists from Denmark, have published the first report of the largest
Biologists deCODE genetics discovered 600 millionpolymorphisms and insertions in 150,000 genomes, which corresponds to 7% of those that could theoretically occur in human genes. However, it is possible that some theoretically possible variables are incompatible with life.
Studying a large data set allowed scientistsseparate regions of the genome that are tolerant of high sequence diversity from those that are more “conservative.” Regions that are intolerant of sequence diversity are hypothesized to be important for human survival and procreation.
“Data of this type and quantity will produce“a revolution in our ability to identify and characterize intergenic sequences important for human diversity, be it disease risk and response to treatment or some other characteristics,” said Kari Stefansson, founder of deCODE and one of the authors of the paper.
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