Table 1 Summary of samples used in validation experiments with known variants as reported by Coriell
From: Analytical validation of whole exome and whole genome sequencing for clinical applications
Sample | Sex | Known variants | Note |
|---|---|---|---|
NA12878 | F | Heterozygous CYP2C19 c.681G > A (rs4244285) | |
NA12891 | M | Homozygous CYP2C19 c.681G > A (rs4244285) | Father to NA12878 |
NA12892 | F | N/A | Mother to NA12878 |
NA10080 | M | Heterozygous PTEN c.781C > T | |
NA18507 | M | N/A |