Figure 4From: Analytical validation of whole exome and whole genome sequencing for clinical applications WES (A) and WGS (B) genotype concordance (concordance), non-reference sensitivity (NRS) and non-reference concordance (NRC) relative to three different SNP microarray genotypes: 1) an Illumina Omni2.5 genotype performed in-house, 2) an Omni2.5 genotype performed as part of the 1000 Genomes project, and 3) Hapmap 3.3 genotype. Not all genotypes are available for all samples. Only those SNPs within the exome capture targets are considered for WES concordance. The GAP does not report non-variant sites, so homozygous reference calls are not considered in the concordance evaluation.Back to article page