Researchers from Children’s Hospital of Philadelphia (CHOP) and the Perelman School of Medicine at the University of Pennsylvania (Penn Medicine) have successfully employed an algorithm to identify potential mutations which increase disease risk in the noncoding regions our DNA, which make up the vast majority of the human genome. The findings could serve as the basis for detecting disease-associated variants in a range of common diseases. The findings were published online today by the American Journal of Human Genetics.
While certain sections of the human genome code for proteins to carry out a variety of essential biological functions, more than 98% of the genome does not code for proteins. However, disease-associated variants can also be found in these noncoding regions of the genome, which often…