Figure 2

Diagram depicting the differences between the number of variants identified by WGS and ES of the same individual genome. WGS identified 3,420,306 SNPs throughout the genome, including 18,829 coding SNPs (cSNPs). Targeted exome sequence (ES) focuses on capturing most of the coding variation contained in 197,583 exonic regions (VCRome 2.1 design). From this, ES identified 21,772 concordant cSNPs among four Illumina sequencing runs and 18,063 high-quality cSNP variants concordant among all six exome sequencing experiments. Of these, 3,709 cSNPs difered from the cSNPs identified by the original SOLiD WGS approach.