Rare genetic variants more likely than common ones to result in disease
A common problem with the mass-sequencing of genetic material, especially the human genome, is how to translate this information into meaningful scientific data. Following the publication of the first draft sequence of the human genome in 2001, a natural starting point has been the comparison between sequences of different origin in an attempt to identify degrees of disease susceptibility and potential markers. But this approach, arguably, has so far proven to be unsuccessful.
However in an article in Nature magazine this week, Erika Check Hayden highlights the results of two recent papers (here and here) that suggest that “the most common genetic variations actually have very small impacts on complex human traits, and that it is the rarer variations - carried by fewer than five people in a thousand - are more significant to human health”.
Head over to Nature for more - it’s an interesting read.