The investigators sought to reveal shared mechanisms by which certain genetic variants (inter- and intragenic single-nucleotide polymorphisms, or SNPs) contribute downstream to a specific disease—and to reveal possible drug targets. The goal was to identify the biological mechanisms by which genetic factors associated with complex diseases impact risk. This was accomplished by integrating multiple, various types of data that reflect gene action.
The study identified potential mechanisms for the role of genetic risk factors in complex disease. These mechanisms will play an important role in the development of new drugs for treatment of diseases such as cancer. “Our results provide a ‘roadmap’ of disease mechanisms emerging from genome-wide association studies, to identify candidate therapeutic targets,” commented Jason Moore, PhD, senior author.
Read the article in npj Genomic Medicine.