Scientists have taken a first step toward understanding how rare genetic differences among people contribute to leading chronic illnesses. One-letter DNA code changes occur frequently in human genomes, but each variant is usually found in only a few individuals. This phenomenon is consistent with the population explosion of the past 5,000 years. Studying the evolution of rare genetic variants and their health impact is critical as low cost, rapid sequencing enters clinical use.
A study of the genetics of common diseases including diabetes, heart disease and bipolar disorder has found that commonly occurring copy number variations -- duplicated or missing chunks of DNA in our genome -- are unlikely to play ... Read Post
New genomic analyses suggest that the most common genetic variants in the human genome aren't the ones most likely causing disease. Rare genetic variants, the type found most often in functional areas of human DNA, are more often li... Read Post
One-letter switches in the DNA code occur much more frequently in human genomes than anticipated, but are often only found in one or a few individuals. The abundance of rare variations across the human genome is consistent with the ... Read Post