Table 4 WES and WGS samples used in different concordance experiments
From: Analytical validation of whole exome and whole genome sequencing for clinical applications
Experiment | WES comparison sets | WGS comparison sets |
|---|---|---|
Intra-run reproducibility | NA12878: r1-1-1 vs. r1-1-2 | NA12878: r1-1-1 vs. r1-1-3 |
NA18507: r2-1-2 vs. r2-1-3 | NA18507: r2-1-3 vs. r2-1-4 | |
Inter-run reproducibility | NA18507: r2-1-2 vs. r3-1-2 | NA18507: r2-1-3 vs. r3-1-3 |
NA18507: r2-1-3 vs. r3-1-2 | NA18507: r2-1-4 vs. r3-1-3 | |
NA12878: r1-1-1 vs. r2-1-1 vs. r3-1-1 | NA12878: r1-1-1 vs. r2-1-1 vs. r3-1-1 | |
NA12878: r2-2-1 vs. r3-2-1 | ||
Inter-machine reproducibility | NA12878: r3-1-1 vs. r3-2-1 | NA12878: r3-1-1 vs. r3-2-1 |
NA12878: r4-1-1 vs. r4-2-1 | NA12878: r2-1-1 vs. r2-2-1 | |
NA18507: r4-1-2 vs. r4-2-2 | ||
Inter-mode reproducibility | NA12878, NA18507, NA12891, NA12892 r4-*-* versus all others | N/A |