Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants

Understanding the extent, distribution and age of human protein-coding genetic variants across diverse populations allows fascinating insights into human population dynamics and the resultant evolutionary forces. Cataloguing and dating such variation will also allow us to understand the origin of the seemingly endless list of potential disease variants and to prioritize among them for further investigation. A recent study describes the sequencing of 15,336 genes in 4,298 individuals of European American and 2,217 individuals of African American ancestry, providing insights into a recent human population expansion and the associated evolution of disease variants.

Fu, W. et al. 

Nature 28 Nov 2012 (doi: 10.1038/nature11690)