New online resource helps connect rare genetic variants to human health and disease
In 2006, researchers discovered that people with certain variants of the gene PCSK9 had dramatically lower cholesterol levels than the general population. Individuals with two broken copies of the gene — one from each parent — were up to 88 percent less likely to have coronary heart disease than people with functioning PCSK9 .
Katherine Chao Konrad Karczewski Matthew Solomonson Benjamin Neale Broad Institute National Institutes Of Health
Source: pressreleasepoint.com