FLICKR, DUNCAN HULL
The frequencies of genetic mutations that affect how proteins function are currently based on how often those mutations end up causing detectable disease. According to a study published last week (June 4) in the The American Journal of Human Genetics, mutations with the potential to cause disease only do so about half of the time.
The study, which was part of a large-scale National Institutes of Health (NIH) genome sequencing project called ClinSeq, included more than 950 apparently healthy volunteers between the ages of 45 and 60. All participants carried about 100,000 protein-coding gene variants, but the majority of those variants were harmless. The NIH team found that just more than 100 donors carried potentially disease-causing genetic mutations. When the researchers followed up with 79 ...
