Number of variants detected by number of parent-offspring duos.
Boxplot for the occurrence of variants with MAF<0.01 detected from 38 sire-son duos (blue). The boxplots in red show how many of them were present in transcript regions. Each boxplot is constructed from 50 replicates of random samples of a given number of duos (from 1 to 38). Solid lines are the corresponding quadratic regression for the number of rare variants discovered in the Australian Holstein population according the number of duos used. The regression equation for the total number of rare variants (y) according to the number of duos (x) was y = 108432+80557x-926x2. The regression equation equivalent for the number of rare variants in transcript regions was y = 653+775x-6.7x2. This means that we would need 44 duos for detecting most of the rare variants along the genome, which number is projected to be 1,860,826. Among these 23,000 are expected to be present in transcript regions, and 58 parent offspring duos would be necessary to detect them.
