Rare genetic variants create 'synthetic' genome-wide signals of disease risk

Scientists say they are now convinced that rare genetic variants -- as opposed to more common ones -- lie at the heart of the genetic component of most common diseases. The finding, stemming from a series of simulation studies, challenges common interpretations of a multitude of genome-wide association studies that have identified thousands of single-DNA letter changes associated with greater risk of common diseases such as cancer, heart disease and diabetes.

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