Private variants And ancestry

 

Number of Missense Variants Unique to an Individual Across Phase3 1000 Genomes

Above are missense variants unique to Phase 3 1000 Genomes, only found in 1 individual.  These private variants have implications towards the utility of clinical sequencing both in rare childhood diseases and in oncology where variant filtering approaches are used for tumor only sequencing

 

This seams to correlate with the recent Nature 1000 Genomes, suggesting that the number of private variants may be greatest in populations undergoing recent expansions.

 From Nature http://www.nature.com/nature/journal/v526/n7571/fig_tab/nature15393_F2.html

From Nature http://www.nature.com/nature/journal/v526/n7571/fig_tab/nature15393_F2.html