Whether we are predisposed to particular diseases depends to a large extent on the countless variants in our genome. However, particularly in the case of genetic variants that only rarely occur in the ...

Researchers 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.

Genetic mutations cause hundreds of unsolved and untreatable disorders. Among them, DNA mutations in a small percentage of cells, called mosaic mutations, are extremely difficult to detect because ...