Comprehensive comparison of three commercial human whole-exome capture platforms

Table 4 Power for identifying disease-causing rare mutations

	NA-r1	NA-r2	NS-r1	NS-r2	AS-r1	AS-r2
High quality genotype assigned sites	32,139	32,674	31,750	31,923	31,685	31,353
Reference genotypes	32,124	32,658	31,732	31,909	31,666	31,335
SNPs	15	16	18	14	19	18
Low quality genotype assigned sites	6,064	5,529	6,453	6,280	7,349	7,681
Uncovered	1,703	1,703	1,703	1,703	872	872

For each replicate, the 30-fold data set used for Tables 2 and 3 analyses was also used for this analysis. AS, Agilent solution; NA, NimbleGen array; NS, NimbleGen solution; r1 and r2 are two replicate experiments for each platform.

ISSN: 1474-760X